#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_Mutation_Status	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
RNASE2	6036	broad.mit.edu	37	14	21424080	21424080	+	Silent	SNP	C	C	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr14:21424080C>T	ENST00000304625.2	+	2	240	c.150C>T	c.(148-150)tgC>tgT	p.C50C		NM_002934.2	NP_002925.1	P10153	RNAS2_HUMAN	ribonuclease, RNase A family, 2 (liver, eosinophil-derived neurotoxin)	50					chemotaxis (GO:0006935)|RNA catabolic process (GO:0006401)|RNA phosphodiester bond hydrolysis (GO:0090501)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	nucleic acid binding (GO:0003676)|pancreatic ribonuclease activity (GO:0004522)|ribonuclease activity (GO:0004540)			breast(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|stomach(1)	17	all_cancers(95;0.00381)		OV - Ovarian serous cystadenocarcinoma(11;6.3e-09)|Epithelial(56;1.42e-07)|all cancers(55;5.48e-07)	GBM - Glioblastoma multiforme(265;0.0187)		CCCAGCAATGCACCAATGCAA	0.438																																						ENST00000304625.2																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|stomach(1)	17						c.(148-150)tgC>tgT		ribonuclease, RNase A family, 2 (liver, eosinophil-derived neurotoxin)							87.0	77.0	80.0					14																	21424080		2203	4300	6503	SO:0001819	synonymous_variant	6036				chemotaxis|RNA catabolic process	extracellular region|lysosome	nucleic acid binding|pancreatic ribonuclease activity	g.chr14:21424080C>T	X55988	CCDS9561.1	14q11.2	2014-03-13			ENSG00000169385	ENSG00000169385		"""Ribonucleases, RNase A"""	10045	protein-coding gene	gene with protein product		131410		RNS2		1577491, 2734298	Standard	NM_002934		Approved	EDN	uc001vyl.1	P10153	OTTHUMG00000029607	ENST00000304625.2:c.150C>T	14.37:g.21424080C>T			Somatic					p.C50C	NM_002934.2	NP_002925.1	WXS	Illumina GAIIx	Phase_I	P10153	RNAS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(11;6.3e-09)|Epithelial(56;1.42e-07)|all cancers(55;5.48e-07)	GBM - Glioblastoma multiforme(265;0.0187)	2	240	+	all_cancers(95;0.00381)		50					Q52M39|Q9H2B7|Q9UCG7	Silent	SNP	ENST00000304625.2	37	c.150C>T	CCDS9561.1																																																																																				0.438	RNASE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073799.2			4	210	0	0	0	1	0	4	210				
CCDC91	55297	broad.mit.edu	37	12	28458580	28458580	+	Splice_Site	SNP	A	A	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr12:28458580A>T	ENST00000545336.1	+	7	528		c.e7-1		CCDC91_ENST00000539107.1_Splice_Site|CCDC91_ENST00000540401.1_Splice_Site|CCDC91_ENST00000381256.1_Splice_Site|CCDC91_ENST00000306172.5_Splice_Site|CCDC91_ENST00000381259.1_Splice_Site			Q7Z6B0	CCD91_HUMAN	coiled-coil domain containing 91						protein transport (GO:0015031)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|skin(1)	22	Acute lymphoblastic leukemia(23;0.00718)|all_hematologic(23;0.0113)|Lung SC(9;0.184)					GTTTTTCTTTAGTATCTGGAG	0.393																																						ENST00000545336.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|skin(1)	22						c.e7-1		coiled-coil domain containing 91							191.0	185.0	187.0					12																	28458580		2203	4300	6503	SO:0001630	splice_region_variant	55297				protein transport	Golgi apparatus|membrane		g.chr12:28458580A>T	AK093152	CCDS8716.1	12p11.22	2006-03-17				ENSG00000123106			24855	protein-coding gene	gene with protein product	"""GGA binding partner"""					12808037	Standard	XM_005253413		Approved	p56, FLJ11088, DKFZp779L1558	uc001riq.3	Q7Z6B0		ENST00000545336.1:c.110-1A>T	12.37:g.28458580A>T			Somatic				CCDC91_ENST00000381259.1_Splice_Site|CCDC91_ENST00000539107.1_Splice_Site|CCDC91_ENST00000540401.1_Splice_Site|CCDC91_ENST00000306172.5_Splice_Site|CCDC91_ENST00000381256.1_Splice_Site				WXS	Illumina GAIIx	Phase_I	Q7Z6B0	CCD91_HUMAN			7	528	+	Acute lymphoblastic leukemia(23;0.00718)|all_hematologic(23;0.0113)|Lung SC(9;0.184)							B3KSA3|C9JR07|Q68D43|Q6IA78|Q8NEN7|Q9NUW9	Splice_Site	SNP	ENST00000545336.1	37		CCDS8716.1	.	.	.	.	.	.	.	.	.	.	A	10.50	1.368066	0.24771	.	.	ENSG00000123106	ENST00000538586;ENST00000539107;ENST00000536442;ENST00000545336;ENST00000543534;ENST00000545737;ENST00000381259;ENST00000381256;ENST00000306172	.	.	.	4.86	4.86	0.63082	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.0599	0.47942	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CCDC91	28349847	0.998000	0.40836	0.923000	0.36655	0.233000	0.25261	4.431000	0.59915	2.172000	0.68678	0.477000	0.44152	.		0.393	CCDC91-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402447.1	NM_018318	Intron	8	465	0	0	0	1	0	8	465				
ZNF318	24149	broad.mit.edu	37	6	43323361	43323361	+	Missense_Mutation	SNP	G	G	A			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr6:43323361G>A	ENST00000361428.2	-	4	1788	c.1711C>T	c.(1711-1713)Ccg>Tcg	p.P571S	ZNF318_ENST00000318149.3_Missense_Mutation_p.P571S	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	571					meiotic nuclear division (GO:0007126)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			GCTGAAGACGGCAGGGAGCTT	0.478																																						ENST00000361428.2																			0				autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61						c.(1711-1713)Ccg>Tcg		zinc finger protein 318							102.0	107.0	105.0					6																	43323361		2203	4300	6503	SO:0001583	missense	24149				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding	g.chr6:43323361G>A	AF090114	CCDS4895.2	6p21.1	2013-09-19			ENSG00000171467	ENSG00000171467		"""Zinc fingers, C2H2-type"""	13578	protein-coding gene	gene with protein product						10873617	Standard	NM_014345		Approved	HRIHFB2436, ZFP318	uc003oux.3	Q5VUA4	OTTHUMG00000014732	ENST00000361428.2:c.1711C>T	6.37:g.43323361G>A	ENSP00000354964:p.Pro571Ser		Somatic				ZNF318_ENST00000318149.3_Missense_Mutation_p.P571S	p.P571S	NM_014345.2	NP_055160.2	WXS	Illumina GAIIx	Phase_I	Q5VUA4	ZN318_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)		4	1788	-			571					O94796|Q4G0E4|Q8NEM6|Q9UNU8|Q9Y2W9	Missense_Mutation	SNP	ENST00000361428.2	37	c.1711C>T	CCDS4895.2	.	.	.	.	.	.	.	.	.	.	G	14.13	2.442370	0.43326	.	.	ENSG00000171467	ENST00000318149;ENST00000361428	T;T	0.03004	4.08;4.08	6.17	3.41	0.39046	.	0.191512	0.44483	N	0.000444	T	0.03053	0.0090	L	0.29908	0.895	0.32305	N	0.56452	D	0.54772	0.968	P	0.62813	0.907	T	0.44174	-0.9345	10	0.42905	T	0.14	-2.2708	8.5433	0.33406	0.1211:0.0:0.7537:0.1252	.	571	Q5VUA4	ZN318_HUMAN	S	571	ENSP00000323032:P571S;ENSP00000354964:P571S	ENSP00000323032:P571S	P	-	1	0	ZNF318	43431339	0.987000	0.35691	0.574000	0.28523	0.728000	0.41692	1.656000	0.37355	0.459000	0.27016	0.655000	0.94253	CCG		0.478	ZNF318-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040601.2	NM_014345		6	538	0	0	0	1	0	6	538				
ARAP2	116984	broad.mit.edu	37	4	36069579	36069579	+	Missense_Mutation	SNP	G	G	A	rs377015356		TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr4:36069579G>A	ENST00000303965.4	-	33	5554	c.5065C>T	c.(5065-5067)Cgg>Tgg	p.R1689W		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	1689					regulation of ARF GTPase activity (GO:0032312)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						GTTCTTGACCGTTGTAGAACC	0.358																																						ENST00000303965.4																			0				breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						c.(5065-5067)Cgg>Tgg		ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2							97.0	98.0	98.0					4																	36069579		2203	4300	6503	SO:0001583	missense	116984				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding	g.chr4:36069579G>A	AF411982	CCDS3441.1	4p15.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000047365	ENSG00000047365		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16924	protein-coding gene	gene with protein product		606645	"""centaurin, delta 1"""	CENTD1			Standard	NM_015230		Approved	PARX	uc003gsq.2	Q8WZ64	OTTHUMG00000097811	ENST00000303965.4:c.5065C>T	4.37:g.36069579G>A	ENSP00000302895:p.Arg1689Trp		Somatic					p.R1689W	NM_015230.3	NP_056045.2	WXS	Illumina GAIIx	Phase_I	Q8WZ64	ARAP2_HUMAN			33	5554	-			1689					Q4W5D2|Q7Z2L5|Q96L70|Q96P49|Q9Y4E4	Missense_Mutation	SNP	ENST00000303965.4	37	c.5065C>T	CCDS3441.1	.	.	.	.	.	.	.	.	.	.	G	16.25	3.069954	0.55539	.	.	ENSG00000047365	ENST00000303965	T	0.10573	2.86	5.79	2.62	0.31277	.	0.081885	0.48286	D	0.000197	T	0.19327	0.0464	L	0.32530	0.975	0.26832	N	0.968552	D	0.89917	1.0	D	0.65573	0.936	T	0.02391	-1.1166	10	0.87932	D	0	.	12.1751	0.54180	0.0:0.0:0.5359:0.4641	.	1689	Q8WZ64	ARAP2_HUMAN	W	1689	ENSP00000302895:R1689W	ENSP00000302895:R1689W	R	-	1	2	ARAP2	35745974	0.543000	0.26434	0.703000	0.30354	0.768000	0.43524	1.288000	0.33296	0.691000	0.31592	0.650000	0.86243	CGG		0.358	ARAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215074.2	NM_015230		4	244	0	0	0	1	0	4	244				
NUCB2	4925	broad.mit.edu	37	11	17323307	17323307	+	Missense_Mutation	SNP	A	A	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr11:17323307A>C	ENST00000529010.1	+	5	488	c.269A>C	c.(268-270)aAa>aCa	p.K90T	NUCB2_ENST00000323688.6_Missense_Mutation_p.K90T|NUCB2_ENST00000458064.2_Missense_Mutation_p.K90T	NM_005013.2	NP_005004	P80303	NUCB2_HUMAN	nucleobindin 2	90						cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nuclear outer membrane (GO:0005640)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)			kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						AGGCTAAGCAAAGAACTGGAT	0.328																																						ENST00000529010.1																			0				kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						c.(268-270)aAa>aCa		nucleobindin 2							110.0	102.0	104.0					11																	17323307		1850	4096	5946	SO:0001583	missense	4925					cytosol|ER-Golgi intermediate compartment|extracellular space|Golgi apparatus|plasma membrane	calcium ion binding|DNA binding	g.chr11:17323307A>C	AF052642	CCDS41623.1	11p15.1	2013-01-10						"""EF-hand domain containing"""	8044	protein-coding gene	gene with protein product		608020				7811391	Standard	NM_005013		Approved	NEFA	uc001mmw.3	P80303		ENST00000529010.1:c.269A>C	11.37:g.17323307A>C	ENSP00000436455:p.Lys90Thr		Somatic				NUCB2_ENST00000323688.6_Missense_Mutation_p.K90T|NUCB2_ENST00000458064.2_Missense_Mutation_p.K90T	p.K90T	NM_005013.2	NP_005004.1	WXS	Illumina GAIIx	Phase_I	P80303	NUCB2_HUMAN			5	488	+			90					A8K642|D3DQX5|Q8NFT5	Missense_Mutation	SNP	ENST00000529010.1	37	c.269A>C	CCDS41623.1	.	.	.	.	.	.	.	.	.	.	A	16.11	3.029778	0.54790	.	.	ENSG00000070081	ENST00000530527;ENST00000323688;ENST00000529010;ENST00000529313;ENST00000533926;ENST00000458064	T;T;T	0.19669	2.13;2.13;2.14	5.8	4.67	0.58626	.	0.087191	0.85682	D	0.000000	T	0.28034	0.0691	M	0.72894	2.215	0.41694	D	0.989364	B;B;B	0.32526	0.374;0.258;0.258	B;B;B	0.38225	0.268;0.064;0.064	T	0.05305	-1.0893	10	0.59425	D	0.04	-13.883	9.5698	0.39420	0.8478:0.0:0.1522:0.0	.	90;90;90	E7EV42;P80303;D3DQX5	.;NUCB2_HUMAN;.	T	90	ENSP00000320168:K90T;ENSP00000436455:K90T;ENSP00000408702:K90T	ENSP00000320168:K90T	K	+	2	0	NUCB2	17279883	1.000000	0.71417	1.000000	0.80357	0.777000	0.43975	6.283000	0.72646	1.016000	0.39470	0.533000	0.62120	AAA		0.328	NUCB2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387614.2	NM_005013		4	267	0	0	0	1	0	4	267				
ADAR	103	broad.mit.edu	37	1	154560618	154560618	+	Missense_Mutation	SNP	C	C	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr1:154560618C>T	ENST00000368474.4	-	11	3201	c.3002G>A	c.(3001-3003)cGc>cAc	p.R1001H	ADAR_ENST00000292205.5_Missense_Mutation_p.R1044H|ADAR_ENST00000368471.3_Missense_Mutation_p.R706H	NM_001111.4|NM_015840.3|NM_015841.3	NP_001102|NP_056655.2|NP_056656.2	P55265	DSRAD_HUMAN	adenosine deaminase, RNA-specific	1001	A to I editase. {ECO:0000255|PROSITE- ProRule:PRU00240}.				adenosine to inosine editing (GO:0006382)|base conversion or substitution editing (GO:0016553)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|miRNA loading onto RISC involved in gene silencing by miRNA (GO:0035280)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|negative regulation of viral genome replication (GO:0045071)|positive regulation of viral genome replication (GO:0045070)|pre-miRNA processing (GO:0031054)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|supraspliceosomal complex (GO:0044530)	DNA binding (GO:0003677)|double-stranded RNA adenosine deaminase activity (GO:0003726)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		CACCTTGGTGCGGAGCTTTCC	0.562																																						ENST00000368474.4																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51						c.(3001-3003)cGc>cAc		adenosine deaminase, RNA-specific							255.0	230.0	238.0					1																	154560618		2203	4300	6503	SO:0001583	missense	103				adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway	cytoplasm|nucleolus|nucleoplasm	DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding	g.chr1:154560618C>T	BC038227	CCDS1071.1, CCDS30879.1	1q21.3	2012-03-22			ENSG00000160710	ENSG00000160710	3.5.4.-		225	protein-coding gene	gene with protein product		146920	"""interferon-induced protein 4"""	IFI4, G1P1		7972084	Standard	NM_001111		Approved	ADAR1	uc001ffh.3	P55265	OTTHUMG00000037261	ENST00000368474.4:c.3002G>A	1.37:g.154560618C>T	ENSP00000357459:p.Arg1001His		Somatic				ADAR_ENST00000292205.5_Missense_Mutation_p.R1044H|ADAR_ENST00000368471.3_Missense_Mutation_p.R706H	p.R1001H	NM_001111.4|NM_015840.3|NM_015841.3	NP_001102.2|NP_056655.2|NP_056656.2	WXS	Illumina GAIIx	Phase_I	P55265	DSRAD_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)	11	3201	-	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		1001			A to I editase.		B1AQQ9|B1AQR0|D3DV76|O15223|O43859|O43860|Q9BYM3|Q9BYM4	Missense_Mutation	SNP	ENST00000368474.4	37	c.3002G>A	CCDS1071.1	.	.	.	.	.	.	.	.	.	.	C	35	5.477339	0.96291	.	.	ENSG00000160710	ENST00000292205;ENST00000368474;ENST00000368471;ENST00000529168	D;D;D;D	0.94280	-3.39;-3.39;-3.39;-3.39	5.58	5.58	0.84498	Adenosine deaminase/editase (3);	0.000000	0.85682	D	0.000000	D	0.96309	0.8796	M	0.74546	2.27	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	D	0.95625	0.8684	10	0.51188	T	0.08	-18.9183	19.5563	0.95349	0.0:1.0:0.0:0.0	.	956;975;1001	P55265-3;P55265-2;P55265	.;.;DSRAD_HUMAN	H	1044;1001;706;970	ENSP00000292205:R1044H;ENSP00000357459:R1001H;ENSP00000357456:R706H;ENSP00000431794:R970H	ENSP00000292205:R1044H	R	-	2	0	ADAR	152827242	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.245000	0.78237	2.628000	0.89032	0.650000	0.86243	CGC		0.562	ADAR-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000090691.2	NM_001111		7	485	0	0	0	1	0	7	485				
KANSL1L	151050	broad.mit.edu	37	2	211019250	211019250	+	Silent	SNP	T	T	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr2:211019250T>C	ENST00000281772.9	-	2	320	c.57A>G	c.(55-57)ccA>ccG	p.P19P	KANSL1L_ENST00000429908.2_5'UTR|KANSL1L_ENST00000457374.1_Silent_p.P19P|KANSL1L_ENST00000452086.1_Silent_p.P19P|KANSL1L_ENST00000418791.1_Silent_p.P19P	NM_152519.2	NP_689732.2	A0AUZ9	KAL1L_HUMAN	KAT8 regulatory NSL complex subunit 1-like	19						histone acetyltransferase complex (GO:0000123)											CCATGGTACTTGGCAAAGATG	0.433																																						ENST00000281772.9																			0											c.(55-57)ccA>ccG		KAT8 regulatory NSL complex subunit 1-like							73.0	71.0	72.0					2																	211019250		2203	4300	6503	SO:0001819	synonymous_variant	151050							g.chr2:211019250T>C	AK074441	CCDS33370.1	2q34	2012-02-20	2012-02-20	2012-02-20	ENSG00000144445	ENSG00000144445			26310	protein-coding gene	gene with protein product	"""KIAA1267-like"""	613833	"""chromosome 2 open reading frame 67"""	C2orf67		12477932	Standard	NM_152519		Approved	FLJ23861, FLJ32349, MSL1v2, KIAA1267L	uc002vds.3	A0AUZ9	OTTHUMG00000154697	ENST00000281772.9:c.57A>G	2.37:g.211019250T>C			Somatic				KANSL1L_ENST00000457374.1_Silent_p.P19P|KANSL1L_ENST00000452086.1_Silent_p.P19P|KANSL1L_ENST00000418791.1_Silent_p.P19P|KANSL1L_ENST00000429908.2_5'UTR	p.P19P	NM_152519.2	NP_689732.2	WXS	Illumina GAIIx	Phase_I	A0AUZ9	CB067_HUMAN			2	320	-			19					B7ZLN1|I6L9A8|Q53TV8|Q53TW3|Q6IS05|Q8TCI1|Q96MI0|Q9UFC3	Silent	SNP	ENST00000281772.9	37	c.57A>G	CCDS33370.1																																																																																				0.433	KANSL1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336633.3	NM_152519		4	171	0	0	0	1	0	4	171				
NBPF14	25832	broad.mit.edu	37	1	148012533	148012533	+	Missense_Mutation	SNP	T	T	G	rs144977899		TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr1:148012533T>G	ENST00000369219.1	-	12	1442	c.1426A>C	c.(1426-1428)Aag>Cag	p.K476Q				Q5TI25	NBPFE_HUMAN	neuroblastoma breakpoint family, member 14	476	NBPF 5. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)		p.E481D(1)|p.K476Q(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	42	all_hematologic(923;0.032)					CCAACATGCTTTTCCTCCAAT	0.448																																						ENST00000369219.1																			2	Substitution - Missense(2)	p.E481D(1)|p.K476Q(1)	lung(2)	NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	42						c.(1426-1428)Aag>Cag		neuroblastoma breakpoint family, member 14		T	GLN/LYS	149,1589		11,127,731	3.0	3.0	3.0		1426		0.0	1	dbSNP_134	3	199,3727		1,197,1765	no	missense	NBPF14	NM_015383.1	53	12,324,2496	GG,GT,TT		5.0688,8.5731,6.1441	benign	476/922	148012533	348,5316	869	1963	2832	SO:0001583	missense	25832					cytoplasm		g.chr1:148012533T>G	AK092351		1q21.1	2013-01-17			ENSG00000122497			"""neuroblastoma breakpoint family"""	25232	protein-coding gene	gene with protein product		614003				8619474, 9110174, 16079250	Standard	NM_015383		Approved	DJ328E19.C1.1	uc021owp.2	Q5TI25	OTTHUMG00000013900	ENST00000369219.1:c.1426A>C	1.37:g.148012533T>G	ENSP00000358221:p.Lys476Gln		Somatic					p.K476Q			WXS	Illumina GAIIx	Phase_I	Q5TI25	NBPFE_HUMAN			12	1442	-	all_hematologic(923;0.032)		476			NBPF 5.		Q5TI23|Q8IX76|Q9UJI9	Missense_Mutation	SNP	ENST00000369219.1	37	c.1426A>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	-|-	0.001|0.001	-3.636353|-3.636353	0.00007|0.00007	0.085731|0.085731	0.050688|0.050688	ENSG00000122497|ENSG00000122497	ENST00000310701;ENST00000392972;ENST00000426874|ENST00000369219;ENST00000434489	.|T	.|0.05199	.|3.48	.|.	.|.	.|.	.|DUF1220 (2);	.|.	.|.	.|.	.|.	T|T	0.00468|0.00468	0.0015|0.0015	N|N	0.00104|0.00104	-2.125|-2.125	0.09310|0.09310	N|N	1|1	.|B;B;P	.|0.43431	.|0.001;0.005;0.807	.|B;B;P	.|0.53518	.|0.01;0.023;0.728	T|T	0.31138|0.31138	-0.9954|-0.9954	3|7	.|0.02654	.|T	.|1	.|.	.|.	.|.	.|.	.|.	.|143;590;476	.|E7EWM5;Q8IX74;Q5TI25	.|.;.;NBPFE_HUMAN	N|Q	481;486;486|476;141	.|ENSP00000358221:K476Q	.|ENSP00000358221:K476Q	K|K	-|-	3|1	2|0	NBPF14|NBPF14	146479157|146479157	0.953000|0.953000	0.32496|0.32496	0.001000|0.001000	0.08648|0.08648	0.001000|0.001000	0.01503|0.01503	-1.318000|-1.318000	0.02705|0.02705	-1.050000|-1.050000	0.03230|0.03230	-1.115000|-1.115000	0.02055|0.02055	AAA|AAG		0.448	NBPF14-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_015383		10	298	0	0	0	1	0	10	298				
DIS3	22894	broad.mit.edu	37	13	73335578	73335578	+	Missense_Mutation	SNP	G	G	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr13:73335578G>T	ENST00000377767.4	-	19	2693	c.2593C>A	c.(2593-2595)Cca>Aca	p.P865T	DIS3_ENST00000545453.1_Missense_Mutation_p.P703T|DIS3_ENST00000377780.4_Missense_Mutation_p.P835T	NM_014953.3	NP_055768.3	Q9Y2L1	RRP44_HUMAN	DIS3 exosome endoribonuclease and 3'-5' exoribonuclease	865					CUT catabolic process (GO:0071034)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of GTPase activity (GO:0043547)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA catabolic process (GO:0016075)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|membrane (GO:0016020)|nuclear exosome (RNase complex) (GO:0000176)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	3'-5'-exoribonuclease activity (GO:0000175)|endonuclease activity (GO:0004519)|guanyl-nucleotide exchange factor activity (GO:0005085)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(7)|kidney(5)|large_intestine(10)|lung(6)|prostate(2)|skin(1)	35		Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195)		GBM - Glioblastoma multiforme(99;0.000181)		CCATACTTTGGAATTAATACC	0.318										Multiple Myeloma(4;0.011)																												ENST00000377767.4																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(7)|kidney(5)|large_intestine(10)|lung(6)|prostate(2)|skin(1)	35						c.(2593-2595)Cca>Aca		DIS3 mitotic control homolog (S. cerevisiae)							95.0	100.0	98.0					13																	73335578		2203	4300	6503	SO:0001583	missense	22894				CUT catabolic process|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA catabolic process|rRNA processing	cytosol|exosome (RNase complex)|nucleolus|nucleoplasm	3'-5'-exoribonuclease activity|endonuclease activity|guanyl-nucleotide exchange factor activity|protein binding|RNA binding	g.chr13:73335578G>T	AB023225	CCDS9447.1, CCDS45057.1	13q21.32	2014-03-05	2014-03-05	2007-01-12	ENSG00000083520	ENSG00000083520			20604	protein-coding gene	gene with protein product	"""exosome component 11"""	607533	"""KIAA1008"", ""DIS3 mitotic control homolog (S. cerevisiae)"""	KIAA1008		11935316, 9562621	Standard	XM_005266294		Approved	dis3p, RRP44, EXOSC11	uc001vix.4	Q9Y2L1	OTTHUMG00000017070	ENST00000377767.4:c.2593C>A	13.37:g.73335578G>T	ENSP00000366997:p.Pro865Thr	Multiple Myeloma(4;0.011)	Somatic				DIS3_ENST00000545453.1_Missense_Mutation_p.P703T|DIS3_ENST00000377780.4_Missense_Mutation_p.P835T	p.P865T	NM_014953.3	NP_055768.3	WXS	Illumina GAIIx	Phase_I	Q9Y2L1	RRP44_HUMAN		GBM - Glioblastoma multiforme(99;0.000181)	19	2693	-		Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195)	865					A6NI21|B2RBL2|Q5W0P7|Q5W0P8|Q658Z7|Q7Z481|Q8WWI2|Q9UG36	Missense_Mutation	SNP	ENST00000377767.4	37	c.2593C>A	CCDS9447.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.997169	0.74818	.	.	ENSG00000083520	ENST00000377767;ENST00000377780;ENST00000545453	T;T;T	0.28895	1.6;1.59;1.6	5.86	5.02	0.67125	.	0.000000	0.85682	D	0.000000	T	0.64114	0.2569	M	0.91920	3.255	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.995	T	0.73594	-0.3933	10	0.66056	D	0.02	.	15.1673	0.72840	0.0676:0.0:0.9324:0.0	.	835;865	Q9Y2L1-2;Q9Y2L1	.;RRP44_HUMAN	T	865;835;703	ENSP00000366997:P865T;ENSP00000367011:P835T;ENSP00000440058:P703T	ENSP00000366997:P865T	P	-	1	0	DIS3	72233579	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.770000	0.85390	1.486000	0.48398	-0.150000	0.13652	CCA		0.318	DIS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045250.2	NM_014953		12	66	1	0	1.36491e-13	1	1.58169e-13	12	66				
RNF40	9810	broad.mit.edu	37	16	30780684	30780684	+	Missense_Mutation	SNP	G	G	A			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr16:30780684G>A	ENST00000324685.6	+	16	2860	c.2425G>A	c.(2425-2427)Gag>Aag	p.E809K	RNF40_ENST00000567365.1_3'UTR|RNF40_ENST00000563683.1_Missense_Mutation_p.E769K|RNF40_ENST00000357890.5_Missense_Mutation_p.E709K|RNF40_ENST00000402121.3_Missense_Mutation_p.E501K	NM_001207033.1|NM_014771.3	NP_001193962.1|NP_055586	O75150	BRE1B_HUMAN	ring finger protein 40, E3 ubiquitin protein ligase	809					histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|ubiquitin-dependent protein catabolic process (GO:0006511)	HULC complex (GO:0033503)|membrane (GO:0016020)|neuron projection (GO:0043005)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)	30			Colorectal(24;0.198)			GGAGAAGGATGAGTTGGGCGA	0.582																																						ENST00000324685.6																			0				central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)	30						c.(2425-2427)Gag>Aag		ring finger protein 40, E3 ubiquitin protein ligase							107.0	111.0	109.0					16																	30780684		2197	4300	6497	SO:0001583	missense	9810				histone H2B ubiquitination|histone monoubiquitination|ubiquitin-dependent protein catabolic process	nucleus|synaptosome|ubiquitin ligase complex	protein homodimerization activity|ubiquitin protein ligase binding|zinc ion binding	g.chr16:30780684G>A	AB014561	CCDS10691.1, CCDS55994.1	16p11.2-p11.1	2012-02-23	2012-02-23		ENSG00000103549	ENSG00000103549		"""RING-type (C3HC4) zinc fingers"""	16867	protein-coding gene	gene with protein product	"""BRE1 E3 ubiquitin ligase homolog B (S. cerevisiae)"""	607700	"""ring finger protein 40"""			9734811, 10944455, 12121982	Standard	NM_014771		Approved	KIAA0661, RBP95, BRE1B, STARING	uc002dzq.3	O75150	OTTHUMG00000132394	ENST00000324685.6:c.2425G>A	16.37:g.30780684G>A	ENSP00000325677:p.Glu809Lys		Somatic				RNF40_ENST00000357890.5_Missense_Mutation_p.E709K|RNF40_ENST00000563683.1_Missense_Mutation_p.E769K|RNF40_ENST00000402121.3_Missense_Mutation_p.E501K|RNF40_ENST00000567365.1_3'UTR	p.E809K	NM_001207033.1|NM_014771.3	NP_001193962.1|NP_055586.1	WXS	Illumina GAIIx	Phase_I	O75150	BRE1B_HUMAN	Colorectal(24;0.198)		16	2860	+			809					Q6AHZ6|Q6N005|Q7L3T6|Q8N615|Q96T18|Q9BSV9|Q9HC82	Missense_Mutation	SNP	ENST00000324685.6	37	c.2425G>A	CCDS10691.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.827250	0.90955	.	.	ENSG00000103549	ENST00000324685;ENST00000357890;ENST00000402121;ENST00000538323	T;T;T	0.32272	1.46;1.48;1.48	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.54565	0.1866	L	0.57536	1.79	0.80722	D	1	B;P;D;D;D	0.89917	0.442;0.93;1.0;1.0;0.999	B;P;D;D;D	0.91635	0.219;0.503;0.999;0.997;0.993	T	0.48917	-0.8992	10	0.54805	T	0.06	-37.1002	19.1176	0.93348	0.0:0.0:1.0:0.0	.	141;501;709;809;809	F6SYU7;F8W8Z4;O75150-4;A8K6K1;O75150	.;.;.;.;BRE1B_HUMAN	K	809;709;501;141	ENSP00000325677:E809K;ENSP00000350563:E709K;ENSP00000384942:E501K	ENSP00000325677:E809K	E	+	1	0	RNF40	30688185	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	6.427000	0.73378	2.884000	0.98904	0.655000	0.94253	GAG		0.582	RNF40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255524.2	NM_014771		6	78	0	0	0	1	0	6	78				
CD8A	925	broad.mit.edu	37	2	87013077	87013077	+	Missense_Mutation	SNP	C	C	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr2:87013077C>T	ENST00000409511.2	-	9	1704	c.674G>A	c.(673-675)gGa>gAa	p.G225E	CD8A_ENST00000352580.3_Missense_Mutation_p.G188E|CD8A_ENST00000283635.3_Missense_Mutation_p.G225E|CD8A_ENST00000456996.2_Missense_Mutation_p.G188E|CD8A_ENST00000409781.1_Missense_Mutation_p.G188E|CD8A_ENST00000538832.1_Missense_Mutation_p.G266E	NM_001145873.1	NP_001139345.1	P01732	CD8A_HUMAN	CD8a molecule	225					antigen processing and presentation (GO:0019882)|cytotoxic T cell differentiation (GO:0045065)|defense response to virus (GO:0051607)|immune response (GO:0006955)|positive regulation of calcium-mediated signaling (GO:0050850)|regulation of immune response (GO:0050776)|T cell activation (GO:0042110)|T cell mediated immunity (GO:0002456)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	coreceptor activity (GO:0015026)|MHC class I protein binding (GO:0042288)			lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	8						GGGCTTGTCTCCCGATTTGAC	0.542																																						ENST00000409511.2																			0				lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	8						c.(673-675)gGa>gAa		CD8a molecule							174.0	170.0	171.0					2																	87013077		2203	4300	6503	SO:0001583	missense	925				antigen processing and presentation|regulation of immune response|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane|T cell receptor complex	coreceptor activity|MHC class I protein binding	g.chr2:87013077C>T		CCDS1992.1, CCDS1993.1	2p12	2014-09-17	2006-03-28		ENSG00000153563	ENSG00000153563		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	1706	protein-coding gene	gene with protein product		186910	"""CD8 antigen, alpha polypeptide (p32)"", ""T-cell surface glycoprotein CD8 alpha chain"""	CD8		1541829	Standard	NM_171827		Approved		uc002sru.3	P01732	OTTHUMG00000130265	ENST00000409511.2:c.674G>A	2.37:g.87013077C>T	ENSP00000386559:p.Gly225Glu		Somatic				CD8A_ENST00000409781.1_Missense_Mutation_p.G188E|CD8A_ENST00000283635.3_Missense_Mutation_p.G225E|CD8A_ENST00000352580.3_Missense_Mutation_p.G188E|CD8A_ENST00000538832.1_Missense_Mutation_p.G266E|CD8A_ENST00000456996.2_Missense_Mutation_p.G188E	p.G225E	NM_001145873.1	NP_001139345.1	WXS	Illumina GAIIx	Phase_I	P01732	CD8A_HUMAN			9	1704	-			225					B4DT80|D6W5M8|Q13970|Q4ZG17	Missense_Mutation	SNP	ENST00000409511.2	37	c.674G>A	CCDS1992.1	.	.	.	.	.	.	.	.	.	.	C	11.51	1.658902	0.29515	.	.	ENSG00000153563	ENST00000456996;ENST00000352580;ENST00000283635;ENST00000409511;ENST00000442577;ENST00000538832;ENST00000409781	T;T;T;T;T;T	0.81247	-1.47;-1.47;-1.04;-1.04;-1.11;-1.1	3.94	-1.32	0.09201	.	0.711919	0.14019	N	0.346937	D	0.83547	0.5278	M	0.72118	2.19	0.29720	N	0.838733	B;P;D	0.76494	0.404;0.539;0.999	B;B;D	0.63597	0.075;0.156;0.916	T	0.75519	-0.3289	10	0.37606	T	0.19	-1.0083	5.7847	0.18326	0.0:0.3112:0.4885:0.2003	.	266;188;225	B4DT80;P01732-2;P01732	.;.;CD8A_HUMAN	E	188;188;225;225;210;266;188	ENSP00000398868:G188E;ENSP00000321631:G188E;ENSP00000283635:G225E;ENSP00000386559:G225E;ENSP00000438371:G266E;ENSP00000387314:G188E	ENSP00000283635:G225E	G	-	2	0	CD8A	86866588	0.435000	0.25577	0.557000	0.28306	0.213000	0.24496	-0.179000	0.09768	-0.278000	0.09180	0.655000	0.94253	GGA		0.542	CD8A-006	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000330784.3	NM_001768		6	150	0	0	0	1	0	6	150				
ALDH1L1	10840	broad.mit.edu	37	3	125850328	125850328	+	Missense_Mutation	SNP	C	C	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr3:125850328C>T	ENST00000393434.2	-	13	1871	c.1522G>A	c.(1522-1524)Gcc>Acc	p.A508T	ALDH1L1_ENST00000472186.1_Missense_Mutation_p.A508T|ALDH1L1_ENST00000452905.2_Missense_Mutation_p.A407T|ALDH1L1_ENST00000273450.3_Missense_Mutation_p.A518T|ALDH1L1_ENST00000393431.2_Intron	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	508	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process (GO:0009258)|biosynthetic process (GO:0009058)|one-carbon metabolic process (GO:0006730)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	catalytic activity (GO:0003824)|formyltetrahydrofolate dehydrogenase activity (GO:0016155)|hydroxymethyl-, formyl- and related transferase activity (GO:0016742)|methyltransferase activity (GO:0008168)|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	GCATCCAGGGCCTCAATGGTG	0.637																																						ENST00000393434.2																			0				NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52						c.(1522-1524)Gcc>Acc		aldehyde dehydrogenase 1 family, member L1	Tetrahydrofolic acid(DB00116)						80.0	70.0	73.0					3																	125850328		2203	4300	6503	SO:0001583	missense	10840				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity	g.chr3:125850328C>T	AF052732	CCDS3034.1, CCDS58850.1, CCDS58851.1	3q21.2	2010-07-19		2005-01-27	ENSG00000144908	ENSG00000144908	1.5.1.6	"""Aldehyde dehydrogenases"""	3978	protein-coding gene	gene with protein product	"""cytosolic 10-formyltetrahydrofolate dehydrogenase"""	600249	"""formyltetrahydrofolate dehydrogenase"""	FTHFD			Standard	NM_012190		Approved	10-fTHF	uc031sbp.1	O75891	OTTHUMG00000125551	ENST00000393434.2:c.1522G>A	3.37:g.125850328C>T	ENSP00000377083:p.Ala508Thr		Somatic				ALDH1L1_ENST00000273450.3_Missense_Mutation_p.A518T|ALDH1L1_ENST00000472186.1_Missense_Mutation_p.A508T|ALDH1L1_ENST00000452905.2_Missense_Mutation_p.A407T|ALDH1L1_ENST00000393431.2_Intron	p.A508T	NM_012190.3	NP_036322.2	WXS	Illumina GAIIx	Phase_I	O75891	AL1L1_HUMAN		GBM - Glioblastoma multiforme(114;0.0462)	13	1871	-			508			Aldehyde dehydrogenase.		B4DG36|E9PBX3|Q68CS1	Missense_Mutation	SNP	ENST00000393434.2	37	c.1522G>A	CCDS3034.1	.	.	.	.	.	.	.	.	.	.	C	4.402	0.074333	0.08485	.	.	ENSG00000144908	ENST00000273450;ENST00000472186;ENST00000452905;ENST00000393434	T;T;T;T	0.75704	-0.96;-0.96;-0.96;-0.96	3.94	3.94	0.45596	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.064909	0.64402	D	0.000011	T	0.44159	0.1280	N	0.02111	-0.68	0.80722	D	1	B;B	0.30634	0.288;0.064	B;B	0.31686	0.134;0.053	T	0.45026	-0.9289	10	0.13470	T	0.59	.	9.1299	0.36839	0.2182:0.7818:0.0:0.0	.	407;508	E9PBX3;O75891	.;AL1L1_HUMAN	T	518;508;407;508	ENSP00000273450:A518T;ENSP00000420293:A508T;ENSP00000395881:A407T;ENSP00000377083:A508T	ENSP00000273450:A518T	A	-	1	0	ALDH1L1	127333018	0.004000	0.15560	1.000000	0.80357	0.335000	0.28730	-0.335000	0.07873	2.186000	0.69663	0.313000	0.20887	GCC		0.637	ALDH1L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354391.1	NM_012190		5	71	0	0	0	1	0	5	71				
DPH7	92715	broad.mit.edu	37	9	140469236	140469236	+	Silent	SNP	C	C	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr9:140469236C>T	ENST00000277540.2	-	4	592	c.435G>A	c.(433-435)ttG>ttA	p.L145L	DPH7_ENST00000479650.1_5'UTR	NM_138778.2	NP_620133.1	Q9BTV6	DPH7_HUMAN	diphthamide biosynthesis 7	145					peptidyl-diphthamide biosynthetic process from peptidyl-histidine (GO:0017183)												AATCTAGGGACAAAGCCAGAC	0.537																																						ENST00000277540.2																			0											c.(433-435)ttG>ttA		diphthamide biosynthesis 7							159.0	158.0	158.0					9																	140469236		2203	4300	6503	SO:0001819	synonymous_variant	92715							g.chr9:140469236C>T	AK075115	CCDS7047.1	9q34.3	2013-06-20	2013-06-20	2013-06-20	ENSG00000148399	ENSG00000148399		"""WD repeat domain containing"""	25199	protein-coding gene	gene with protein product		613210	"""chromosome 9 open reading frame 112"", ""WD repeat domain 85"""	C9orf112, WDR85		23486472	Standard	NM_138778		Approved	FLJ90634, RRT2	uc004cnk.1	Q9BTV6	OTTHUMG00000020991	ENST00000277540.2:c.435G>A	9.37:g.140469236C>T			Somatic				DPH7_ENST00000479650.1_5'UTR	p.L145L	NM_138778.2	NP_620133.1	WXS	Illumina GAIIx	Phase_I					4	592	-								Q96AB7	Silent	SNP	ENST00000277540.2	37	c.435G>A	CCDS7047.1																																																																																				0.537	DPH7-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055350.1	NM_138778		14	91	0	0	0	1	0	14	91				
SCUBE2	57758	broad.mit.edu	37	11	9077401	9077401	+	Silent	SNP	A	A	G			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr11:9077401A>G	ENST00000309263.3	-	10	1218	c.1146T>C	c.(1144-1146)ccT>ccC	p.P382P	RP11-467K18.2_ENST00000521394.2_RNA|SCUBE2_ENST00000450649.2_Silent_p.P382P|RP11-467K18.2_ENST00000531592.1_RNA|SCUBE2_ENST00000520467.1_Silent_p.P382P|SCUBE2_ENST00000457346.2_Silent_p.P382P			Q9NQ36	SCUB2_HUMAN	signal peptide, CUB domain, EGF-like 2	382	EGF-like 8; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			breast(1)|endometrium(5)|kidney(3)|large_intestine(15)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42				all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)		CAAATGTGCCAGGGTGGTTGA	0.552																																						ENST00000457346.2																			0				breast(1)|endometrium(5)|kidney(3)|large_intestine(15)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42						c.(1144-1146)ccT>ccC		signal peptide, CUB domain, EGF-like 2							237.0	200.0	213.0					11																	9077401		2201	4296	6497	SO:0001819	synonymous_variant	57758					extracellular region	calcium ion binding	g.chr11:9077401A>G	AK131552	CCDS7797.1, CCDS7797.2, CCDS53599.1	11p15.4	2014-09-04			ENSG00000175356	ENSG00000175356			30425	protein-coding gene	gene with protein product		611747				12270931, 11528127	Standard	NM_020974		Approved	Cegf1, Cegb1, FLJ16792	uc001mhi.2	Q9NQ36	OTTHUMG00000163880	ENST00000309263.3:c.1146T>C	11.37:g.9077401A>G			Somatic				SCUBE2_ENST00000450649.2_Silent_p.P382P|RP11-467K18.2_ENST00000531592.1_RNA|SCUBE2_ENST00000520467.1_Silent_p.P382P|SCUBE2_ENST00000309263.3_Silent_p.P382P	p.P382P			WXS	Illumina GAIIx	Phase_I	Q9NQ36	SCUB2_HUMAN		all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)	10	1220	-			382			EGF-like 8; calcium-binding (Potential).		Q2NKQ8|Q6ZWI1	Silent	SNP	ENST00000309263.3	37	c.1146T>C		.	.	.	.	.	.	.	.	.	.	A	10.83	1.460848	0.26248	.	.	ENSG00000175356	ENST00000519788;ENST00000531429	.	.	.	6.04	2.26	0.28386	.	.	.	.	.	T	0.42223	0.1193	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.25572	-1.0128	4	.	.	.	.	0.6481	0.00822	0.318:0.2367:0.1211:0.3243	.	.	.	.	P	106;147	.	.	L	-	2	0	SCUBE2	9033977	0.981000	0.34729	0.999000	0.59377	0.998000	0.95712	0.213000	0.17521	0.118000	0.18165	0.460000	0.39030	CTG		0.552	SCUBE2-005	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000385812.2	NM_020974		8	663	0	0	0	1	0	8	663				
TPGS2	25941	broad.mit.edu	37	18	34380218	34380218	+	Silent	SNP	G	G	A			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr18:34380218G>A	ENST00000334295.4	-	5	866	c.439C>T	c.(439-441)Ctg>Ttg	p.L147L	TPGS2_ENST00000589049.1_Silent_p.L147L|TPGS2_ENST00000593035.1_Silent_p.L112L|TPGS2_ENST00000587129.1_Silent_p.L147L|TPGS2_ENST00000590842.1_Silent_p.L147L|TPGS2_ENST00000590652.1_5'UTR|TPGS2_ENST00000383056.3_Silent_p.L104L	NM_015476.2	NP_056291.2	Q68CL5	TPGS2_HUMAN	tubulin polyglutamylase complex subunit 2	147						cytoplasm (GO:0005737)|microtubule (GO:0005874)											CATGAATCCAGCTCAAATATC	0.448																																						ENST00000334295.4																			0											c.(439-441)Ctg>Ttg		tubulin polyglutamylase complex subunit 2							220.0	212.0	215.0					18																	34380218		2203	4300	6503	SO:0001819	synonymous_variant	25941					cytoplasm|microtubule		g.chr18:34380218G>A	BC015178	CCDS32817.1, CCDS62421.1, CCDS62422.1, CCDS62423.1, CCDS62424.1, CCDS74214.1, CCDS74215.1	18q12.2	2011-11-25	2011-11-25	2011-11-25	ENSG00000134779	ENSG00000134779			24561	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 10"""	C18orf10		12477932	Standard	NM_015476		Approved	DKFZP586M1523, HsT3006	uc031rhw.1	Q68CL5		ENST00000334295.4:c.439C>T	18.37:g.34380218G>A			Somatic				TPGS2_ENST00000383056.3_Silent_p.L104L|TPGS2_ENST00000587129.1_Silent_p.L147L|TPGS2_ENST00000590652.1_5'UTR|TPGS2_ENST00000593035.1_Silent_p.L112L|TPGS2_ENST00000589049.1_Silent_p.L147L|TPGS2_ENST00000590842.1_Silent_p.L147L	p.L147L	NM_015476.2	NP_056291.2	WXS	Illumina GAIIx	Phase_I	Q68CL5	TPGS2_HUMAN			5	866	-			147					B4DIX2|K7EIJ9|Q4KN59|Q8WTU3|Q96BT9|Q9Y435	Silent	SNP	ENST00000334295.4	37	c.439C>T	CCDS32817.1																																																																																				0.448	TPGS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000440410.2	NM_015476		5	946	0	0	0	1	0	5	946				
PHKG2	5261	broad.mit.edu	37	16	30762868	30762868	+	Splice_Site	SNP	A	A	G			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr16:30762868A>G	ENST00000563588.1	+	4	510		c.e4-1		PHKG2_ENST00000424889.3_Splice_Site|PHKG2_ENST00000328273.7_Splice_Site|RP11-2C24.4_ENST00000483578.1_lincRNA	NM_000294.2	NP_000285.1	P15735	PHKG2_HUMAN	phosphorylase kinase, gamma 2 (testis)						carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|positive regulation of glycogen catabolic process (GO:0045819)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)	ATP binding (GO:0005524)|phosphorylase kinase activity (GO:0004689)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)			ovary(1)|skin(1)	2			Colorectal(24;0.198)			CTCTCTCCCTAGTCACCCTCA	0.552																																						ENST00000563588.1																			0				ovary(1)|skin(1)	2						c.e4-1		phosphorylase kinase, gamma 2 (testis)							503.0	452.0	469.0					16																	30762868		2197	4300	6497	SO:0001630	splice_region_variant	5261				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	ATP binding|calmodulin binding|phosphorylase kinase activity	g.chr16:30762868A>G	S73483, M31606	CCDS10690.1, CCDS54002.1	16p11.2	2008-02-05			ENSG00000156873	ENSG00000156873			8931	protein-coding gene	gene with protein product		172471				2915644, 8020963	Standard	NM_000294		Approved		uc021tgo.1	P15735	OTTHUMG00000132400	ENST00000563588.1:c.272-1A>G	16.37:g.30762868A>G			Somatic				PHKG2_ENST00000328273.7_Splice_Site|PHKG2_ENST00000424889.3_Splice_Site		NM_000294.2	NP_000285.1	WXS	Illumina GAIIx	Phase_I	P15735	PHKG2_HUMAN	Colorectal(24;0.198)		4	510	+								A8K0C7|B4DEB7|E9PEU3|P11800	Splice_Site	SNP	ENST00000563588.1	37		CCDS10690.1	.	.	.	.	.	.	.	.	.	.	A	17.74	3.462898	0.63513	.	.	ENSG00000156873	ENST00000328273;ENST00000424889	.	.	.	5.03	5.03	0.67393	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.7279	0.62769	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PHKG2	30670369	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	9.248000	0.95456	1.888000	0.54679	0.460000	0.39030	.		0.552	PHKG2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255531.2	NM_000294	Intron	4	492	0	0	0	1	0	4	492				
DHX9	1660	broad.mit.edu	37	1	182853842	182853842	+	Missense_Mutation	SNP	G	G	A			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr1:182853842G>A	ENST00000367549.3	+	27	3465	c.3355G>A	c.(3355-3357)Gct>Act	p.A1119T	DHX9_ENST00000485081.1_3'UTR	NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9	1119					ATP catabolic process (GO:0006200)|cellular response to heat (GO:0034605)|circadian rhythm (GO:0007623)|CRD-mediated mRNA stabilization (GO:0070934)|DNA duplex unwinding (GO:0032508)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|positive regulation of type I interferon production (GO:0032481)|RNA splicing (GO:0008380)	centrosome (GO:0005813)|CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)|RNA polymerase II transcription factor binding (GO:0001085)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						CAAACAACCTGCTATCATCAG	0.473																																					Colon(69;210 1162 3697 13559 39565)	ENST00000367549.3																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						c.(3355-3357)Gct>Act		DEAH (Asp-Glu-Ala-His) box helicase 9							103.0	95.0	98.0					1																	182853842		1993	4169	6162	SO:0001583	missense	1660				CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome	centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding	g.chr1:182853842G>A	L13848	CCDS41444.1	1q25	2013-05-13	2013-05-13	2003-06-20	ENSG00000135829	ENSG00000135829		"""DEAH-boxes"""	2750	protein-coding gene	gene with protein product	"""NDH II"", ""RNA helicase A"""	603115	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 9 (RNA helicase A, nuclear DNA helicase II; leukophysin)"", ""DEAH (Asp-Glu-Ala-His) box polypeptide 9"""	LKP, DDX9		8344961, 9111062	Standard	NM_001357		Approved	RHA	uc001gpr.3	Q08211	OTTHUMG00000035337	ENST00000367549.3:c.3355G>A	1.37:g.182853842G>A	ENSP00000356520:p.Ala1119Thr		Somatic				DHX9_ENST00000485081.1_3'UTR	p.A1119T	NM_001357.4	NP_001348.2	WXS	Illumina GAIIx	Phase_I	Q08211	DHX9_HUMAN			27	3465	+			1119					B2RNV4|Q05CI5|Q12803|Q32Q22|Q5VY62|Q6PD69|Q99556	Missense_Mutation	SNP	ENST00000367549.3	37	c.3355G>A	CCDS41444.1	.	.	.	.	.	.	.	.	.	.	G	14.27	2.485318	0.44147	.	.	ENSG00000135829	ENST00000367549	D	0.82344	-1.6	5.58	-2.64	0.06114	.	0.832774	0.10610	N	0.654529	T	0.65688	0.2715	N	0.14661	0.345	0.09310	N	1	B;B	0.10296	0.003;0.002	B;B	0.14023	0.01;0.004	T	0.47674	-0.9099	10	0.24483	T	0.36	.	9.3169	0.37939	0.1158:0.0:0.7724:0.1118	.	398;1119	B3KU66;Q08211	.;DHX9_HUMAN	T	1119	ENSP00000356520:A1119T	ENSP00000356520:A1119T	A	+	1	0	DHX9	181120465	0.558000	0.26554	0.000000	0.03702	0.958000	0.62258	2.183000	0.42565	-0.751000	0.04734	-0.890000	0.02929	GCT		0.473	DHX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085522.2	NM_030588		4	106	0	0	0	1	0	4	106				
LRRC37A11P	342666	broad.mit.edu	37	17	37188240	37188240	+	RNA	SNP	C	C	T	rs34700711	byFrequency	TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr17:37188240C>T	ENST00000425901.2	+	0	2082					NR_033753.2				leucine rich repeat containing 37, member A11, pseudogene																		ACAGTTCAACCTCTGGACCTG	0.512													C|||	1269	0.253395	0.0212	0.438	5008	,	,		22408	0.3294		0.2932	False		,,,				2504	0.317					ENST00000425901.2																			0																																																			342666							g.chr17:37188240C>T			17q12	2013-05-14			ENSG00000214553	ENSG00000214553			43815	pseudogene	pseudogene							Standard	NR_033753		Approved		uc002hrd.1		OTTHUMG00000133184		17.37:g.37188240C>T			Somatic						NR_033753.2		WXS	Illumina GAIIx	Phase_I					0	2082	+									RNA	SNP	ENST00000425901.2	37																																																																																						0.512	LRRC37A11P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000444105.1	NR_033753		4	113	0	0	0	1	0	4	113				
ENAM	10117	broad.mit.edu	37	4	71498410	71498410	+	Splice_Site	SNP	G	G	A			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr4:71498410G>A	ENST00000396073.3	+	5	491		c.e5+1			NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin						amelogenesis (GO:0097186)|biomineral tissue development (GO:0031214)	proteinaceous extracellular matrix (GO:0005578)				haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			CGGCCCACATGTAAGTTTTTC	0.318																																						ENST00000396073.3																			0				haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6						c.e5+1		enamelin							318.0	337.0	330.0					4																	71498410		2203	4295	6498	SO:0001630	splice_region_variant	10117				bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel	g.chr4:71498410G>A	AF125373	CCDS3544.2	4q13.3	2008-02-05			ENSG00000132464	ENSG00000132464			3344	protein-coding gene	gene with protein product		606585	"""amelogenesis imperfecta 2, hypocalcification (autosomal dominant)"""	AIH2		11978766	Standard	NM_031889		Approved		uc011caw.1	Q9NRM1	OTTHUMG00000129914	ENST00000396073.3:c.210+1G>A	4.37:g.71498410G>A			Somatic						NM_031889.2	NP_114095.2	WXS	Illumina GAIIx	Phase_I	Q9NRM1	ENAM_HUMAN	Lung(101;0.235)		5	491	+								Q17RI5|Q9H3D1	Splice_Site	SNP	ENST00000396073.3	37		CCDS3544.2	.	.	.	.	.	.	.	.	.	.	G	10.60	1.396539	0.25205	.	.	ENSG00000132464	ENST00000396073	.	.	.	6.07	5.23	0.72850	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.4456	0.50120	0.0824:0.0:0.9176:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ENAM	71717274	1.000000	0.71417	0.999000	0.59377	0.182000	0.23217	2.362000	0.44169	1.585000	0.49928	0.585000	0.79938	.		0.318	ENAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252166.3	NM_031889	Intron	5	444	0	0	0	1	0	5	444				
ATP9A	10079	broad.mit.edu	37	20	50226667	50226667	+	Missense_Mutation	SNP	G	G	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr20:50226667G>C	ENST00000338821.5	-	24	2873	c.2609C>G	c.(2608-2610)cCt>cGt	p.P870R	ATP9A_ENST00000402822.1_Missense_Mutation_p.P749R|ATP9A_ENST00000311637.5_Missense_Mutation_p.P734R	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	870					phospholipid translocation (GO:0045332)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						TTGATAGAGAGGGACGGAGGC	0.423																																						ENST00000338821.5																			0				breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						c.(2608-2610)cCt>cGt		ATPase, class II, type 9A							127.0	113.0	117.0					20																	50226667		2203	4300	6503	SO:0001583	missense	10079				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr20:50226667G>C	AB014511	CCDS33489.1	20q13.2	2010-04-20	2007-09-19		ENSG00000054793	ENSG00000054793		"""ATPases / P-type"""	13540	protein-coding gene	gene with protein product		609126	"""ATPase, Class II, type 9A"""			9734811, 11015572	Standard	NM_006045		Approved	KIAA0611, ATPIIA	uc002xwg.1	O75110	OTTHUMG00000032751	ENST00000338821.5:c.2609C>G	20.37:g.50226667G>C	ENSP00000342481:p.Pro870Arg		Somatic				ATP9A_ENST00000311637.5_Missense_Mutation_p.P734R|ATP9A_ENST00000402822.1_Missense_Mutation_p.P749R	p.P870R	NM_006045.1	NP_006036.1	WXS	Illumina GAIIx	Phase_I	O75110	ATP9A_HUMAN			24	2873	-			870					E1P5Y3|E1P5Y4|Q5TFW5|Q5TFW6|Q5TFW9|Q6ZMF3|Q9NQK6|Q9NQK7	Missense_Mutation	SNP	ENST00000338821.5	37	c.2609C>G	CCDS33489.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.300594	0.81136	.	.	ENSG00000054793	ENST00000311637;ENST00000338821;ENST00000402822	T;T;T	0.70399	-0.48;-0.48;-0.48	4.88	4.88	0.63580	.	0.052502	0.85682	D	0.000000	T	0.72120	0.3421	L	0.53561	1.675	0.80722	D	1	P;P	0.36465	0.527;0.554	B;B	0.41088	0.25;0.347	T	0.75536	-0.3283	10	0.62326	D	0.03	-18.791	18.3951	0.90495	0.0:0.0:1.0:0.0	.	749;870	O75110-2;O75110	.;ATP9A_HUMAN	R	734;870;749	ENSP00000309086:P734R;ENSP00000342481:P870R;ENSP00000385875:P749R	ENSP00000309086:P734R	P	-	2	0	ATP9A	49660074	1.000000	0.71417	0.682000	0.30024	0.997000	0.91878	9.307000	0.96226	2.414000	0.81942	0.655000	0.94253	CCT		0.423	ATP9A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106494.1	NM_006045		5	132	0	0	0	1	0	5	132				
PBX1	5087	broad.mit.edu	37	1	164776859	164776859	+	Missense_Mutation	SNP	C	C	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr1:164776859C>T	ENST00000420696.2	+	5	970	c.782C>T	c.(781-783)cCc>cTc	p.P261L	PBX1_ENST00000401534.1_Missense_Mutation_p.P261L|PBX1_ENST00000560641.1_Missense_Mutation_p.P156L|PBX1_ENST00000540246.1_Missense_Mutation_p.P156L|PBX1_ENST00000540236.1_Missense_Mutation_p.P261L|PBX1_ENST00000559240.1_Missense_Mutation_p.P261L|PBX1_ENST00000367897.1_Missense_Mutation_p.P261L	NM_001204961.1|NM_001204963.1|NM_002585.3	NP_001191890.1|NP_001191892.1|NP_002576.1	P40424	PBX1_HUMAN	pre-B-cell leukemia homeobox 1	261					adrenal gland development (GO:0030325)|anterior/posterior pattern specification (GO:0009952)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic hemopoiesis (GO:0035162)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system development (GO:0048706)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|organ morphogenesis (GO:0009887)|positive regulation of cell proliferation (GO:0008284)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|proximal/distal pattern formation (GO:0009954)|regulation of ossification (GO:0030278)|sex differentiation (GO:0007548)|spleen development (GO:0048536)|steroid biosynthetic process (GO:0006694)|thymus development (GO:0048538)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)		EWSR1/PBX1(3)	large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	4						AACCCTTACCCCAGTGAGGAA	0.488			T	"""TCF3, EWSR1"""	"""pre B-ALL, myoepithelioma"""																																	ENST00000420696.2				Dom	yes		1	1q23	5087	T	pre-B-cell leukemia transcription factor 1			"""L, M"""	"""TCF3, EWSR1"""		"""pre B-ALL, myoepithelioma"""	EWSR1/PBX1(3)	0				large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	4						c.(781-783)cCc>cTc		pre-B-cell leukemia homeobox 1							140.0	149.0	146.0					1																	164776859		2203	4300	6503	SO:0001583	missense	5087				negative regulation of sequence-specific DNA binding transcription factor activity|sex differentiation|steroid biosynthetic process	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr1:164776859C>T	M86546	CCDS1246.1, CCDS55654.1	1q23.3	2011-06-20	2007-01-30		ENSG00000185630	ENSG00000185630		"""Homeoboxes / TALE class"""	8632	protein-coding gene	gene with protein product		176310	"""pre-B-cell leukemia transcription factor 1"""				Standard	NM_002585		Approved		uc001gct.3	P40424	OTTHUMG00000034307	ENST00000420696.2:c.782C>T	1.37:g.164776859C>T	ENSP00000405890:p.Pro261Leu		Somatic				PBX1_ENST00000540236.1_Missense_Mutation_p.P261L|PBX1_ENST00000559240.1_Missense_Mutation_p.P261L|PBX1_ENST00000367897.1_Missense_Mutation_p.P261L|PBX1_ENST00000401534.1_Missense_Mutation_p.P261L|PBX1_ENST00000560641.1_Missense_Mutation_p.P156L|PBX1_ENST00000540246.1_Missense_Mutation_p.P156L	p.P261L	NM_001204961.1|NM_001204963.1|NM_002585.3	NP_001191890.1|NP_001191892.1|NP_002576.1	WXS	Illumina GAIIx	Phase_I	P40424	PBX1_HUMAN			5	970	+			261					B4DSC1|F5H4U9|Q5T488	Missense_Mutation	SNP	ENST00000420696.2	37	c.782C>T	CCDS1246.1	.	.	.	.	.	.	.	.	.	.	C	33	5.283109	0.95489	.	.	ENSG00000185630	ENST00000420696;ENST00000367897;ENST00000540236;ENST00000401534;ENST00000540246	D;D;D;D;D	0.97598	-4.45;-4.45;-4.45;-4.45;-4.45	5.6	5.6	0.85130	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.97639	0.9226	L	0.47016	1.485	.	.	.	D;D;D;D;D	0.89917	1.0;0.998;0.997;0.998;0.999	D;D;D;D;D	0.87578	0.996;0.991;0.989;0.991;0.998	D	0.98737	1.0715	9	0.87932	D	0	-14.0264	19.2212	0.93797	0.0:1.0:0.0:0.0	.	156;261;261;261;261	B7Z774;A8K5V0;F5H4U9;P40424;Q53YC7	.;.;.;PBX1_HUMAN;.	L	261;261;261;261;156	ENSP00000405890:P261L;ENSP00000356872:P261L;ENSP00000439943:P261L;ENSP00000384856:P261L;ENSP00000440869:P156L	ENSP00000356872:P261L	P	+	2	0	PBX1	163043483	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.376000	0.79658	2.615000	0.88500	0.650000	0.86243	CCC		0.488	PBX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082864.4	NM_002585		4	172	0	0	0	1	0	4	172				
USP54	159195	broad.mit.edu	37	10	75301423	75301423	+	Missense_Mutation	SNP	C	C	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr10:75301423C>T	ENST00000339859.4	-	7	746	c.646G>A	c.(646-648)Gcc>Acc	p.A216T	USP54_ENST00000394811.2_5'UTR|USP54_ENST00000428547.1_Intron|USP54_ENST00000497106.1_5'UTR|USP54_ENST00000408019.1_Missense_Mutation_p.A216T|USP54_ENST00000319786.7_Missense_Mutation_p.A216T			Q70EL1	UBP54_HUMAN	ubiquitin specific peptidase 54	216	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitinyl hydrolase activity (GO:0036459)			breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	30	Prostate(51;0.0112)					ATGGTGCTGGCATTCTGCAGC	0.498																																					Colon(195;880 2046 8854 25025 38456)	ENST00000339859.4																			0				breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	30						c.(646-648)Gcc>Acc		ubiquitin specific peptidase 54							89.0	85.0	86.0					10																	75301423		1909	4144	6053	SO:0001583	missense	159195				ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity	g.chr10:75301423C>T	AJ583820	CCDS7329.2	10q22.3	2006-09-26	2005-08-08	2004-01-30	ENSG00000166348	ENSG00000166348		"""Ubiquitin-specific peptidases"""	23513	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 29"", ""ubiquitin specific protease 54"""	C10orf29		14715245	Standard	NM_152586		Approved	FLJ37318, bA137L10.3, bA137L10.4	uc001juo.3	Q70EL1	OTTHUMG00000018469	ENST00000339859.4:c.646G>A	10.37:g.75301423C>T	ENSP00000345216:p.Ala216Thr		Somatic				USP54_ENST00000497106.1_5'UTR|USP54_ENST00000394811.2_5'UTR|USP54_ENST00000408019.1_Missense_Mutation_p.A216T|USP54_ENST00000319786.7_Missense_Mutation_p.A216T|USP54_ENST00000428547.1_Intron	p.A216T			WXS	Illumina GAIIx	Phase_I	Q70EL1	UBP54_HUMAN			7	746	-	Prostate(51;0.0112)		216					A1L4Q4|A3KFK3|A3KFK5|A3KFK6|A3KFK7|A6PVS4|A6PVS5|A6PVS6|A6PVS7|B3KVY1|B9ZVM1|Q5F2F4|Q6P1N6|Q6ZSP1|Q6ZSR1|Q6ZTM0|Q8N1X2	Missense_Mutation	SNP	ENST00000339859.4	37	c.646G>A	CCDS7329.2	.	.	.	.	.	.	.	.	.	.	C	36	5.724699	0.96847	.	.	ENSG00000166348	ENST00000339859;ENST00000408019;ENST00000319786	T;T;T	0.05580	3.42;3.42;3.42	5.66	5.66	0.87406	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.64402	U	0.000001	T	0.26521	0.0648	M	0.73217	2.22	0.80722	D	1	D;D;D;D	0.89917	1.0;0.998;0.98;1.0	D;D;P;D	0.91635	0.999;0.995;0.766;0.999	T	0.00059	-1.2167	10	0.38643	T	0.18	-6.3878	20.1253	0.97977	0.0:1.0:0.0:0.0	.	216;216;216;216	B7Z7X1;Q70EL1-4;Q70EL1-6;Q70EL1	.;.;.;UBP54_HUMAN	T	216	ENSP00000345216:A216T;ENSP00000386080:A216T;ENSP00000326547:A216T	ENSP00000326547:A216T	A	-	1	0	USP54	74971429	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.391000	0.79828	2.832000	0.97577	0.655000	0.94253	GCC		0.498	USP54-014	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316563.2	NM_152586		32	106	0	0	0	1	0	32	106				
ZNF749	388567	broad.mit.edu	37	19	57956010	57956010	+	Silent	SNP	G	G	A			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr19:57956010G>A	ENST00000334181.4	+	3	1744	c.1494G>A	c.(1492-1494)ctG>ctA	p.L498L	AC004076.9_ENST00000596831.1_Intron	NM_001023561.2	NP_001018855.2	O43361	ZN749_HUMAN	zinc finger protein 749	498					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1)	13		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177)		AGGCTCATCTGGTTGGTCACC	0.458																																						ENST00000334181.4																			0				breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1)	13						c.(1492-1494)ctG>ctA		zinc finger protein 749							72.0	70.0	71.0					19																	57956010		2203	4300	6503	SO:0001819	synonymous_variant	388567				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57956010G>A	AK122740	CCDS33132.2	19q13.43	2013-01-08			ENSG00000186230	ENSG00000186230		"""Zinc fingers, C2H2-type"", ""-"""	32783	protein-coding gene	gene with protein product							Standard	NM_001023561		Approved	FLJ16360	uc002qoq.2	O43361	OTTHUMG00000150372	ENST00000334181.4:c.1494G>A	19.37:g.57956010G>A			Somatic				AC004076.9_ENST00000596831.1_Intron	p.L498L	NM_001023561.2	NP_001018855.2	WXS	Illumina GAIIx	Phase_I	O43361	ZN749_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177)	3	1744	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	498						Silent	SNP	ENST00000334181.4	37	c.1494G>A	CCDS33132.2																																																																																				0.458	ZNF749-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317879.1	NM_001023561		4	225	0	0	0	1	0	4	225				
DSCAML1	57453	broad.mit.edu	37	11	117392010	117392010	+	Missense_Mutation	SNP	G	G	A			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr11:117392010G>A	ENST00000321322.6	-	6	1229	c.1228C>T	c.(1228-1230)Cgc>Tgc	p.R410C	DSCAML1_ENST00000527706.1_Missense_Mutation_p.R140C	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	350	Ig-like C2-type 5.				axonogenesis (GO:0007409)|brain development (GO:0007420)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|dendrite self-avoidance (GO:0070593)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|homophilic cell adhesion (GO:0007156)|negative regulation of cell adhesion (GO:0007162)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		TCCGTGTTGCGATACCAGCGG	0.627																																						ENST00000321322.6																			0				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110						c.(1228-1230)Cgc>Tgc		Down syndrome cell adhesion molecule like 1							90.0	76.0	81.0					11																	117392010		2201	4296	6497	SO:0001583	missense	57453				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity	g.chr11:117392010G>A		CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	14656	protein-coding gene	gene with protein product		611782				11453658	Standard	NM_020693		Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.1228C>T	11.37:g.117392010G>A	ENSP00000315465:p.Arg410Cys		Somatic				DSCAML1_ENST00000527706.1_Missense_Mutation_p.R140C	p.R410C	NM_020693.2	NP_065744.2	WXS	Illumina GAIIx	Phase_I	Q8TD84	DSCL1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)	6	1229	-	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)	350			Ig-like C2-type 5.		Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Missense_Mutation	SNP	ENST00000321322.6	37	c.1228C>T	CCDS8384.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.237731	0.79800	.	.	ENSG00000177103	ENST00000527706;ENST00000321322;ENST00000446508	T;T	0.34667	1.35;1.35	4.67	4.67	0.58626	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.71787	0.3381	H	0.95079	3.62	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.988;0.994	T	0.82180	-0.0585	9	0.87932	D	0	.	17.7518	0.88436	0.0:0.0:1.0:0.0	.	140;350	G3V1B5;Q8TD84	.;DSCL1_HUMAN	C	140;410;117	ENSP00000434335:R140C;ENSP00000315465:R410C	ENSP00000315465:R410C	R	-	1	0	DSCAML1	116897220	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.371000	0.66150	2.417000	0.82017	0.609000	0.83330	CGC		0.627	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392907.2	NM_020693		18	85	0	0	0	1	0	18	85				
CCNL2	81669	broad.mit.edu	37	1	1333710	1333710	+	Missense_Mutation	SNP	C	C	G			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr1:1333710C>G	ENST00000400809.3	-	3	381	c.376G>C	c.(376-378)Gcc>Ccc	p.A126P	CCNL2_ENST00000408952.5_5'Flank|RP4-758J18.2_ENST00000444362.1_5'Flank|RP4-758J18.2_ENST00000576232.1_5'Flank|CCNL2_ENST00000408918.4_Missense_Mutation_p.A126P|RP4-758J18.2_ENST00000448629.2_5'Flank	NM_030937.4	NP_112199.2	Q96S94	CCNL2_HUMAN	cyclin L2	126	Cyclin-like 1.				regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.03e-36)|OV - Ovarian serous cystadenocarcinoma(86;4.17e-22)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.0023)|BRCA - Breast invasive adenocarcinoma(365;0.00465)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.146)		TGGACACAGGCCATTGACACA	0.557																																						ENST00000400809.3																			0				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(2)	13						c.(376-378)Gcc>Ccc		cyclin L2							164.0	142.0	150.0					1																	1333710		2203	4300	6503	SO:0001583	missense	81669				regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nuclear speck	protein kinase binding	g.chr1:1333710C>G	AF251294	CCDS30557.1, CCDS30558.1	1p36.33	2014-07-03			ENSG00000221978	ENSG00000221978			20570	protein-coding gene	gene with protein product	"""cyclin S"""	613482	"""cyclin M"""	CCNM		14725631	Standard	NM_030937		Approved	ania-6b, PCEE, SB138, HLA-ISO, CCNS	uc001afi.2	Q96S94	OTTHUMG00000002917	ENST00000400809.3:c.376G>C	1.37:g.1333710C>G	ENSP00000383611:p.Ala126Pro		Somatic				CCNL2_ENST00000408918.4_Missense_Mutation_p.A126P	p.A126P	NM_030937.4	NP_112199.2	WXS	Illumina GAIIx	Phase_I	Q96S94	CCNL2_HUMAN		Epithelial(90;2.03e-36)|OV - Ovarian serous cystadenocarcinoma(86;4.17e-22)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.0023)|BRCA - Breast invasive adenocarcinoma(365;0.00465)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.146)	3	381	-	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	126			Cyclin-like 1.		A8K8A3|B1B152|Q5T2N5|Q5T2N6|Q6IQ12|Q7Z4Z8|Q8N3C9|Q8N3D5|Q8NHE3|Q8TEL0|Q96B00	Missense_Mutation	SNP	ENST00000400809.3	37	c.376G>C	CCDS30557.1	.	.	.	.	.	.	.	.	.	.	C	35	5.473641	0.96291	.	.	ENSG00000221978	ENST00000400809;ENST00000408918	T;T	0.61510	0.1;0.1	4.73	4.73	0.59995	Cyclin, N-terminal (1);Cyclin-like (3);	0.000000	0.64402	D	0.000003	D	0.82944	0.5147	H	0.95780	3.72	0.80722	D	1	D;D;D	0.71674	0.996;0.998;0.997	D;D;D	0.76575	0.988;0.958;0.972	D	0.88493	0.3077	9	.	.	.	.	16.8505	0.85992	0.0:1.0:0.0:0.0	.	126;126;126	F2Z3J5;Q96S94;Q96S94-2	.;CCNL2_HUMAN;.	P	126	ENSP00000383611:A126P;ENSP00000386158:A126P	.	A	-	1	0	CCNL2	1323573	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	7.246000	0.78247	2.457000	0.83068	0.655000	0.94253	GCC		0.557	CCNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008146.2	NM_030937		3	53	0	0	0	1	0	3	53				
SMG7	9887	broad.mit.edu	37	1	183495729	183495729	+	Splice_Site	SNP	A	A	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr1:183495729A>T	ENST00000347615.2	+	5	431		c.e5-1		SMG7_ENST00000508461.1_Splice_Site|SMG7_ENST00000367537.3_Splice_Site|SMG7_ENST00000507406.1_Splice_Site|SMG7_ENST00000515829.2_Splice_Site|SMG7_ENST00000456731.2_Splice_Site|SMG7_ENST00000507469.1_Splice_Site	NM_173156.2	NP_775179.1	Q92540	SMG7_HUMAN	SMG7 nonsense mediated mRNA decay factor						gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	protein phosphatase 2A binding (GO:0051721)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						TTTTTCTTTTAGTTATTACAA	0.333																																						ENST00000367537.3																			0				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						c.e6-1		SMG7 nonsense mediated mRNA decay factor							70.0	75.0	74.0					1																	183495729		2203	4300	6503	SO:0001630	splice_region_variant	9887				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|intermediate filament cytoskeleton|nucleus	protein phosphatase 2A binding	g.chr1:183495729A>T	D87437	CCDS1355.1, CCDS41445.1, CCDS41445.2, CCDS53444.1, CCDS53445.1	1q25	2013-07-02	2013-07-02	2006-02-16	ENSG00000116698	ENSG00000116698			16792	protein-coding gene	gene with protein product	"""EST1 telomerase component homolog C (S. cerevisiae)"""	610964	"""chromosome 1 open reading frame 16"", ""smg-7 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	C1orf16		14636577, 15721257	Standard	NM_173156		Approved	KIAA0250, EST1C, SGA56M, SMG-7	uc001gqf.3	Q92540	OTTHUMG00000035221	ENST00000347615.2:c.313-1A>T	1.37:g.183495729A>T			Somatic				SMG7_ENST00000507469.1_Splice_Site|SMG7_ENST00000347615.2_Splice_Site|SMG7_ENST00000508461.1_Splice_Site|SMG7_ENST00000515829.2_Splice_Site|SMG7_ENST00000507406.1_Splice_Site|SMG7_ENST00000456731.2_Splice_Site				WXS	Illumina GAIIx	Phase_I	Q92540	SMG7_HUMAN			6	594	+								B4DRB2|E9PCI0|E9PEH2|Q5T1Q0|Q6PIE0|Q7Z7H9|Q8IXC1|Q8IXC2	Splice_Site	SNP	ENST00000347615.2	37		CCDS1355.1	.	.	.	.	.	.	.	.	.	.	A	17.74	3.464105	0.63513	.	.	ENSG00000116698	ENST00000456731;ENST00000367537;ENST00000508461;ENST00000419169;ENST00000347615;ENST00000507469;ENST00000515829	.	.	.	5.61	5.61	0.85477	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.1025	0.81194	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SMG7	181762352	1.000000	0.71417	0.974000	0.42286	0.892000	0.51952	8.638000	0.91019	2.254000	0.74563	0.533000	0.62120	.		0.333	SMG7-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000085432.1	NM_014837	Intron	4	86	0	0	0	1	0	4	86				
ZNF749	388567	broad.mit.edu	37	19	57956012	57956012	+	Missense_Mutation	SNP	T	T	A			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr19:57956012T>A	ENST00000334181.4	+	3	1746	c.1496T>A	c.(1495-1497)gTt>gAt	p.V499D	AC004076.9_ENST00000596831.1_Intron	NM_001023561.2	NP_001018855.2	O43361	ZN749_HUMAN	zinc finger protein 749	499					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1)	13		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177)		GCTCATCTGGTTGGTCACCAG	0.458																																						ENST00000334181.4																			0				breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1)	13						c.(1495-1497)gTt>gAt		zinc finger protein 749							72.0	70.0	71.0					19																	57956012		2203	4300	6503	SO:0001583	missense	388567				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57956012T>A	AK122740	CCDS33132.2	19q13.43	2013-01-08			ENSG00000186230	ENSG00000186230		"""Zinc fingers, C2H2-type"", ""-"""	32783	protein-coding gene	gene with protein product							Standard	NM_001023561		Approved	FLJ16360	uc002qoq.2	O43361	OTTHUMG00000150372	ENST00000334181.4:c.1496T>A	19.37:g.57956012T>A	ENSP00000333980:p.Val499Asp		Somatic				AC004076.9_ENST00000596831.1_Intron	p.V499D	NM_001023561.2	NP_001018855.2	WXS	Illumina GAIIx	Phase_I	O43361	ZN749_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177)	3	1746	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	499						Missense_Mutation	SNP	ENST00000334181.4	37	c.1496T>A	CCDS33132.2	.	.	.	.	.	.	.	.	.	.	T	5.848	0.340600	0.11069	.	.	ENSG00000186230	ENST00000334181	T	0.07021	3.23	1.66	-0.742	0.11108	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04724	0.0128	N	0.17901	0.54	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.40156	-0.9578	9	0.44086	T	0.13	.	3.4417	0.07466	0.3857:0.0:0.1965:0.4177	.	499	O43361	ZN749_HUMAN	D	499	ENSP00000333980:V499D	ENSP00000333980:V499D	V	+	2	0	ZNF749	62647824	0.000000	0.05858	0.000000	0.03702	0.267000	0.26476	-0.570000	0.05895	-0.292000	0.08999	-0.769000	0.03391	GTT		0.458	ZNF749-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317879.1	NM_001023561		4	222	0	0	0	1	0	4	222				
FAM171A1	221061	broad.mit.edu	37	10	15255477	15255477	+	Missense_Mutation	SNP	G	G	A			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr10:15255477G>A	ENST00000378116.4	-	8	2116	c.2110C>T	c.(2110-2112)Cac>Tac	p.H704Y	FAM171A1_ENST00000477161.1_5'Flank	NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	704						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						GCCCGGGGGTGCGGAAGCGGC	0.562																																						ENST00000378116.4																			0				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						c.(2110-2112)Cac>Tac		family with sequence similarity 171, member A1							56.0	62.0	60.0					10																	15255477		2203	4300	6503	SO:0001583	missense	221061					integral to membrane		g.chr10:15255477G>A	AK022946	CCDS31154.1	10p13	2008-06-16	2008-06-16	2008-06-16	ENSG00000148468	ENSG00000148468			23522	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 38"""	C10orf38			Standard	NM_001010924		Approved	FLJ12884	uc001iob.3	Q5VUB5	OTTHUMG00000017732	ENST00000378116.4:c.2110C>T	10.37:g.15255477G>A	ENSP00000367356:p.His704Tyr		Somatic					p.H704Y	NM_001010924.1	NP_001010924.1	WXS	Illumina GAIIx	Phase_I	Q5VUB5	F1711_HUMAN			8	2116	-			704					D3DRT9|Q32M49|Q8N4I0	Missense_Mutation	SNP	ENST00000378116.4	37	c.2110C>T	CCDS31154.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.216424	0.79352	.	.	ENSG00000148468	ENST00000378116;ENST00000396781	T	0.56941	0.43	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.75459	0.3852	M	0.80982	2.52	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.78478	-0.2188	10	0.87932	D	0	-31.6204	19.0487	0.93032	0.0:0.0:1.0:0.0	.	704	Q5VUB5	F1711_HUMAN	Y	704;703	ENSP00000367356:H704Y	ENSP00000367356:H704Y	H	-	1	0	FAM171A1	15295483	1.000000	0.71417	0.932000	0.37286	0.906000	0.53458	9.657000	0.98554	2.724000	0.93272	0.563000	0.77884	CAC		0.562	FAM171A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046984.1	XM_167709		26	89	0	0	0	1	0	26	89				
MMP3	4314	broad.mit.edu	37	11	102712941	102712941	+	Missense_Mutation	SNP	C	C	A			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr11:102712941C>A	ENST00000299855.5	-	4	825	c.569G>T	c.(568-570)gGg>gTg	p.G190V		NM_002422.3	NP_002413.1	P08254	MMP3_HUMAN	matrix metallopeptidase 3 (stromelysin 1, progelatinase)	190					cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of hydrogen peroxide metabolic process (GO:0010727)|positive regulation of oxidative stress-induced cell death (GO:1903209)|proteolysis (GO:0006508)|regulation of cell migration (GO:0030334)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0142)	Marimastat(DB00786)	TCCATTAATCCCTGGCCCAGG	0.383																																						ENST00000299855.5																			0				endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22						c.(568-570)gGg>gTg		matrix metallopeptidase 3 (stromelysin 1, progelatinase)	Marimastat(DB00786)|Simvastatin(DB00641)						121.0	115.0	117.0					11																	102712941		2203	4299	6502	SO:0001583	missense	4314				collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr11:102712941C>A	X05232	CCDS8323.1	11q22.3	2012-10-02	2005-08-08		ENSG00000149968	ENSG00000149968	3.4.24.17		7173	protein-coding gene	gene with protein product		185250	"""matrix metalloproteinase 3 (stromelysin 1, progelatinase)"""	STMY1, STMY			Standard	NM_002422		Approved		uc001phj.1	P08254	OTTHUMG00000048254	ENST00000299855.5:c.569G>T	11.37:g.102712941C>A	ENSP00000299855:p.Gly190Val		Somatic					p.G190V	NM_002422.3	NP_002413.1	WXS	Illumina GAIIx	Phase_I	P08254	MMP3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.0142)	4	825	-		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	190					B2R8B8|Q3B7S0|Q6GRF8	Missense_Mutation	SNP	ENST00000299855.5	37	c.569G>T	CCDS8323.1	.	.	.	.	.	.	.	.	.	.	C	18.26	3.584463	0.65992	.	.	ENSG00000149968	ENST00000299855	T	0.18502	2.21	5.34	4.42	0.53409	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.417097	0.17670	N	0.166010	T	0.50990	0.1648	H	0.96943	3.91	0.80722	D	1	D	0.76494	0.999	D	0.70227	0.968	T	0.59762	-0.7393	10	0.87932	D	0	.	7.5882	0.28006	0.0:0.7154:0.1545:0.13	.	190	P08254	MMP3_HUMAN	V	190	ENSP00000299855:G190V	ENSP00000299855:G190V	G	-	2	0	MMP3	102218151	0.326000	0.24669	0.582000	0.28627	0.820000	0.46376	1.259000	0.32956	2.937000	0.99478	0.650000	0.86243	GGG		0.383	MMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109758.2	NM_002422		3	102	1	0	6.4e-05	1	7.00444e-05	3	102				
LRP1B	53353	broad.mit.edu	37	2	141571365	141571365	+	Missense_Mutation	SNP	T	T	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr2:141571365T>C	ENST00000389484.3	-	32	6191	c.5220A>G	c.(5218-5220)atA>atG	p.I1740M		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1740					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CCACATAGTCTATCGATAGAC	0.343										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3																			0				NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606						c.(5218-5220)atA>atG		low density lipoprotein receptor-related protein 1B							113.0	102.0	106.0					2																	141571365		2201	4300	6501	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141571365T>C	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.5220A>G	2.37:g.141571365T>C	ENSP00000374135:p.Ile1740Met	TSP Lung(27;0.18)	Somatic					p.I1740M	NM_018557.2	NP_061027.2	WXS	Illumina GAIIx	Phase_I	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	32	6191	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	1740					Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.5220A>G	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	T	13.22	2.172403	0.38315	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.91996	-2.95	5.71	5.71	0.89125	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	D	0.95749	0.8617	M	0.79258	2.445	0.42780	D	0.993862	D	0.76494	0.999	D	0.80764	0.994	D	0.95469	0.8550	10	0.41790	T	0.15	.	15.9781	0.80086	0.0:0.0:0.0:1.0	.	1740	Q9NZR2	LRP1B_HUMAN	M	1740;1678	ENSP00000374135:I1740M	ENSP00000374135:I1740M	I	-	3	3	LRP1B	141287835	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	0.546000	0.23284	2.171000	0.68590	0.533000	0.62120	ATA		0.343	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		3	79	0	0	0	1	0	3	79				
FAM134A	79137	broad.mit.edu	37	2	220045807	220045807	+	Silent	SNP	C	C	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr2:220045807C>T	ENST00000430297.2	+	6	800	c.664C>T	c.(664-666)Ctg>Ttg	p.L222L	CNPPD1_ENST00000409789.1_5'Flank	NM_024293.4	NP_077269.3	Q8NC44	F134A_HUMAN	family with sequence similarity 134, member A	222						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)	19		Renal(207;0.0915)		Epithelial(149;8.92e-07)|all cancers(144;0.000151)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCTGTGGCCCCTGGTGGTTTA	0.527																																						ENST00000430297.2																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)	19						c.(664-666)Ctg>Ttg		family with sequence similarity 134, member A							133.0	128.0	130.0					2																	220045807		2203	4300	6503	SO:0001819	synonymous_variant	79137					endoplasmic reticulum|integral to membrane		g.chr2:220045807C>T	AK074983	CCDS2434.1	2q36.1	2008-02-05	2007-05-01	2007-05-01	ENSG00000144567	ENSG00000144567			28450	protein-coding gene	gene with protein product			"""chromosome 2 open reading frame 17"""	C2orf17			Standard	NM_024293		Approved	MGC3035	uc002vjw.4	Q8NC44	OTTHUMG00000154577	ENST00000430297.2:c.664C>T	2.37:g.220045807C>T			Somatic					p.L222L	NM_024293.4	NP_077269.3	WXS	Illumina GAIIx	Phase_I	Q8NC44	F134A_HUMAN		Epithelial(149;8.92e-07)|all cancers(144;0.000151)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	6	800	+		Renal(207;0.0915)	222					Q6P1P5|Q9H0K7	Silent	SNP	ENST00000430297.2	37	c.664C>T	CCDS2434.1																																																																																				0.527	FAM134A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336147.2	NM_024293		6	99	0	0	0	1	0	6	99				
WDFY3	23001	broad.mit.edu	37	4	85642588	85642588	+	Silent	SNP	G	G	A			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr4:85642588G>A	ENST00000295888.4	-	47	7986	c.7579C>T	c.(7579-7581)Ctg>Ttg	p.L2527L	WDFY3_ENST00000322366.6_Silent_p.L2510L	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	2527	Sufficient for translocalization to p62 bodies/ALIS.				aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		AACAGGCGCAGTAAGGTAGCA	0.428																																						ENST00000322366.6																			0				breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						c.(7528-7530)Ctg>Ttg		WD repeat and FYVE domain containing 3							211.0	196.0	201.0					4																	85642588		2203	4300	6503	SO:0001819	synonymous_variant	23001					cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding	g.chr4:85642588G>A	AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"""Zinc fingers, FYVE domain containing"", ""WD repeat domain containing"""	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.7579C>T	4.37:g.85642588G>A			Somatic				WDFY3_ENST00000295888.4_Silent_p.L2527L	p.L2510L			WXS	Illumina GAIIx	Phase_I	Q8IZQ1	WDFY3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000808)	46	7935	-		Hepatocellular(203;0.114)	2527					Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Silent	SNP	ENST00000295888.4	37	c.7528C>T	CCDS3609.1																																																																																				0.428	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2	NM_014991		4	379	0	0	0	1	0	4	379				
NACA	4666	broad.mit.edu	37	12	57114554	57114554	+	Missense_Mutation	SNP	C	C	A			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr12:57114554C>A	ENST00000454682.1	-	3	1041	c.760G>T	c.(760-762)Gtt>Ttt	p.V254F	NACA_ENST00000546392.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000550952.1_Missense_Mutation_p.V254F|NACA_ENST00000551793.1_Intron	NM_001113203.2	NP_001106674.2	E9PAV3	NACAM_HUMAN	nascent polypeptide-associated complex alpha subunit	254	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						GAAATCAGAACTGAGGAAATG	0.517			T	BCL6	NHL																																	ENST00000454682.1				Dom	yes		12	12q23-q24.1	4666	T	nascent-polypeptide-associated complex alpha polypeptide			L	BCL6		NHL		0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						c.(760-762)Gtt>Ttt		nascent polypeptide-associated complex alpha subunit							195.0	178.0	183.0					12																	57114554		1568	3582	5150	SO:0001583	missense	4666				interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding	g.chr12:57114554C>A	X80909	CCDS31837.1, CCDS44925.1, CCDS44925.2	12q23-q24.1	2008-09-05	2007-04-20		ENSG00000196531	ENSG00000196531			7629	protein-coding gene	gene with protein product		601234	"""nascent-polypeptide-associated complex alpha polypeptide"""			8047162	Standard	NM_001113202		Approved	NACA1	uc001sma.2	E9PAV3		ENST00000454682.1:c.760G>T	12.37:g.57114554C>A	ENSP00000403817:p.Val254Phe		Somatic				NACA_ENST00000356769.3_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000550952.1_Missense_Mutation_p.V254F|NACA_ENST00000552540.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000546392.1_Intron	p.V254F	NM_001113203.2	NP_001106674.2	WXS	Illumina GAIIx	Phase_I	Q13765	NACA_HUMAN			3	1041	-			0						Missense_Mutation	SNP	ENST00000454682.1	37	c.760G>T		.	.	.	.	.	.	.	.	.	.	C	13.31	2.198676	0.38806	.	.	ENSG00000196531	ENST00000454682;ENST00000550952	T;T	0.31247	1.5;1.5	3.65	1.73	0.24493	.	.	.	.	.	T	0.13841	0.0335	N	0.08118	0	0.21064	N	0.999796	B;B	0.30361	0.277;0.021	B;B	0.25291	0.059;0.034	T	0.18840	-1.0324	9	0.72032	D	0.01	.	5.0391	0.14449	0.0:0.6584:0.2164:0.1252	.	254;254	E9PAV3;F8VU71	.;.	F	254	ENSP00000403817:V254F;ENSP00000448035:V254F	ENSP00000403817:V254F	V	-	1	0	NACA	55400821	0.208000	0.23494	0.885000	0.34714	0.081000	0.17604	-0.280000	0.08468	0.165000	0.19558	0.282000	0.19409	GTT		0.517	NACA-201	KNOWN	basic	protein_coding	protein_coding		NM_005594		4	318	1	0	0.150653	1	0.152983	4	318				
C6orf10	10665	broad.mit.edu	37	6	32260989	32260989	+	Silent	SNP	T	T	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr6:32260989T>C	ENST00000447241.2	-	23	1633	c.1461A>G	c.(1459-1461)caA>caG	p.Q487Q	C6orf10_ENST00000442822.2_Intron|C6orf10_ENST00000527965.1_Silent_p.Q471Q|C6orf10_ENST00000533191.1_Silent_p.Q485Q|C6orf10_ENST00000375015.4_Silent_p.Q486Q|C6orf10_ENST00000375007.4_Silent_p.Q485Q	NM_006781.3	NP_006772.3	Q5SRN2	CF010_HUMAN	chromosome 6 open reading frame 10	487	Lys-rich.					integral component of membrane (GO:0016021)|nucleus (GO:0005634)				cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	25						CCTTCTTTTCTTGGGCTTCCT	0.378																																						ENST00000375015.4																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	25						c.(1456-1458)caA>caG		chromosome 6 open reading frame 10							206.0	230.0	222.0					6																	32260989		1511	2709	4220	SO:0001819	synonymous_variant	10665					integral to membrane		g.chr6:32260989T>C	U60665	CCDS34422.1, CCDS69082.1, CCDS75430.1	6p21.32	2012-11-20			ENSG00000204296	ENSG00000204296			13922	protein-coding gene	gene with protein product	"""testis specific basic protein"""					10803852	Standard	XM_005248810		Approved	TSBP	uc021yvs.1	Q5SRN2	OTTHUMG00000031107	ENST00000447241.2:c.1461A>G	6.37:g.32260989T>C			Somatic				C6orf10_ENST00000527965.1_Silent_p.Q471Q|C6orf10_ENST00000447241.2_Silent_p.Q487Q|C6orf10_ENST00000442822.2_Intron|C6orf10_ENST00000375007.4_Silent_p.Q485Q|C6orf10_ENST00000533191.1_Silent_p.Q485Q	p.Q486Q			WXS	Illumina GAIIx	Phase_I	Q5SRN2	CF010_HUMAN			26	1658	-			487			Lys-rich.		A2BET1|A2BET2|A6NME2|B0S7R2|B0S7R3|E9PMB1|Q5SPI9|Q5SPJ0|Q5SPK9|Q5SPL0|Q5SRN3|Q5TG25|Q5TG26|Q8N4B6	Silent	SNP	ENST00000447241.2	37	c.1458A>G	CCDS34422.1																																																																																				0.378	C6orf10-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076178.4	NM_006781		86	378	0	0	0	1	0	86	378				
PLEK	5341	broad.mit.edu	37	2	68608017	68608017	+	Missense_Mutation	SNP	C	C	A			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr2:68608017C>A	ENST00000234313.7	+	3	540	c.361C>A	c.(361-363)Cca>Aca	p.P121T		NM_002664.2	NP_002655.2	P08567	PLEK_HUMAN	pleckstrin	121					actin cytoskeleton reorganization (GO:0031532)|blood coagulation (GO:0007596)|cell projection organization (GO:0030030)|cortical actin cytoskeleton organization (GO:0030866)|hematopoietic progenitor cell differentiation (GO:0002244)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of calcium-mediated signaling (GO:0050849)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|negative regulation of inositol phosphate biosynthetic process (GO:0010920)|phosphatidylinositol metabolic process (GO:0046488)|phospholipase C-inhibiting G-protein coupled receptor signaling pathway (GO:0030845)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of actin filament bundle assembly (GO:0032233)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of inositol-polyphosphate 5-phosphatase activity (GO:0010925)|positive regulation of integrin activation (GO:0033625)|positive regulation of platelet activation (GO:0010572)|protein kinase C signaling (GO:0070528)|protein secretion by platelet (GO:0070560)|regulation of cell diameter (GO:0060305)|ruffle organization (GO:0031529)|thrombin receptor signaling pathway (GO:0070493)|vesicle docking involved in exocytosis (GO:0006904)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|membrane (GO:0016020)|ruffle membrane (GO:0032587)	phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)			autonomic_ganglia(1)|endometrium(3)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	24		Ovarian(717;0.0129)		STAD - Stomach adenocarcinoma(1183;0.00159)|READ - Rectum adenocarcinoma(193;0.0419)		CATTCGACTGCCAGAAACCAT	0.453																																						ENST00000234313.7																			0				autonomic_ganglia(1)|endometrium(3)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	24						c.(361-363)Cca>Aca		pleckstrin							135.0	127.0	129.0					2																	68608017		2203	4300	6503	SO:0001583	missense	5341				actin cytoskeleton reorganization|cortical actin cytoskeleton organization|hemopoietic progenitor cell differentiation|inhibition of phospholipase C activity involved in G-protein coupled receptor signaling pathway|integrin-mediated signaling pathway|negative regulation of calcium-mediated signaling|negative regulation of inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|platelet aggregation|positive regulation of actin filament bundle assembly|positive regulation of actin filament depolymerization|positive regulation of inositol-polyphosphate 5-phosphatase activity|positive regulation of integrin activation|positive regulation of platelet activation|protein kinase C signaling cascade|protein secretion by platelet|regulation of cell diameter|ruffle organization|thrombin receptor signaling pathway|vesicle docking involved in exocytosis	cytosol|extracellular region|membrane fraction|ruffle membrane|soluble fraction	phosphatidylinositol-3,4-bisphosphate binding|protein homodimerization activity|protein kinase C binding	g.chr2:68608017C>A	X07743	CCDS1887.1	2p13.3	2013-01-10			ENSG00000115956	ENSG00000115956		"""Pleckstrin homology (PH) domain containing"""	9070	protein-coding gene	gene with protein product		173570				2897630, 12054651	Standard	NM_002664		Approved	P47	uc002sen.4	P08567	OTTHUMG00000129562	ENST00000234313.7:c.361C>A	2.37:g.68608017C>A	ENSP00000234313:p.Pro121Thr		Somatic					p.P121T	NM_002664.2	NP_002655.2	WXS	Illumina GAIIx	Phase_I	P08567	PLEK_HUMAN		STAD - Stomach adenocarcinoma(1183;0.00159)|READ - Rectum adenocarcinoma(193;0.0419)	3	540	+		Ovarian(717;0.0129)	121					B2R9E8|Q53SU8|Q6FGM8|Q6FGQ1|Q8WV81	Missense_Mutation	SNP	ENST00000234313.7	37	c.361C>A	CCDS1887.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.152027	0.78001	.	.	ENSG00000115956	ENST00000234313	T	0.21361	2.01	5.8	5.8	0.92144	Winged helix-turn-helix transcription repressor DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.45617	0.1351	L	0.58101	1.795	0.80722	D	1	D;D	0.71674	0.994;0.998	D;D	0.70016	0.931;0.967	T	0.18429	-1.0337	10	0.56958	D	0.05	.	20.0608	0.97674	0.0:1.0:0.0:0.0	.	139;121	Q59GZ2;P08567	.;PLEK_HUMAN	T	121	ENSP00000234313:P121T	ENSP00000234313:P121T	P	+	1	0	PLEK	68461521	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.487000	0.81328	2.750000	0.94351	0.655000	0.94253	CCA		0.453	PLEK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251755.1	NM_002664		4	268	1	0	0.00116845	1	0.00123755	4	268				
NSUN3	63899	broad.mit.edu	37	3	93802958	93802958	+	Missense_Mutation	SNP	C	C	A			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr3:93802958C>A	ENST00000314622.4	+	3	341	c.130C>A	c.(130-132)Cta>Ata	p.L44I		NM_022072.3	NP_071355.1	Q9H649	NSUN3_HUMAN	NOP2/Sun domain family, member 3	44							methyltransferase activity (GO:0008168)|RNA binding (GO:0003723)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|skin(1)	18						TAGGGAGATACTAACATCTCC	0.333																																						ENST00000314622.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|skin(1)	18						c.(130-132)Cta>Ata		NOP2/Sun domain family, member 3							37.0	38.0	38.0					3																	93802958		2202	4300	6502	SO:0001583	missense	63899						methyltransferase activity	g.chr3:93802958C>A	BC020602	CCDS2927.1	3q11.2	2009-11-23	2009-11-23		ENSG00000178694	ENSG00000178694		"""NOP2/Sun domain containing"""	26208	protein-coding gene	gene with protein product			"""NOL1/NOP2/Sun domain family 3"", ""NOL1/NOP2/Sun domain family, member 3"""			12477932	Standard	NM_022072		Approved	FLJ22609	uc003drl.1	Q9H649	OTTHUMG00000159025	ENST00000314622.4:c.130C>A	3.37:g.93802958C>A	ENSP00000318986:p.Leu44Ile		Somatic					p.L44I	NM_022072.3	NP_071355.1	WXS	Illumina GAIIx	Phase_I	Q9H649	NSUN3_HUMAN			3	341	+			44					Q6PG41|Q8IXG9|Q9H6M2	Missense_Mutation	SNP	ENST00000314622.4	37	c.130C>A	CCDS2927.1	.	.	.	.	.	.	.	.	.	.	C	12.99	2.104677	0.37145	.	.	ENSG00000178694	ENST00000314622	T	0.29655	1.56	5.81	2.65	0.31530	.	0.000000	0.85682	D	0.000000	T	0.46795	0.1411	L	0.49126	1.545	0.37146	D	0.901911	D	0.76494	0.999	D	0.80764	0.994	T	0.55205	-0.8177	10	0.72032	D	0.01	-12.3679	12.2438	0.54558	0.0:0.7843:0.0:0.2157	.	44	Q9H649	NSUN3_HUMAN	I	44	ENSP00000318986:L44I	ENSP00000318986:L44I	L	+	1	2	NSUN3	95285648	0.999000	0.42202	0.089000	0.20774	0.008000	0.06430	1.894000	0.39768	0.810000	0.34279	0.655000	0.94253	CTA		0.333	NSUN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352934.1	NM_022072		3	78	1	0	1	1	1	3	78				
MYH11	4629	broad.mit.edu	37	16	15842021	15842021	+	Missense_Mutation	SNP	C	C	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr16:15842021C>T	ENST00000300036.5	-	17	2172	c.2063G>A	c.(2062-2064)gGc>gAc	p.G688D	MYH11_ENST00000576790.2_Missense_Mutation_p.G688D|MYH11_ENST00000452625.2_Missense_Mutation_p.G695D|MYH11_ENST00000396324.3_Missense_Mutation_p.G695D	NM_002474.2	NP_002465.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	688	Myosin motor.				axon guidance (GO:0007411)|cardiac muscle fiber development (GO:0048739)|elastic fiber assembly (GO:0048251)|muscle contraction (GO:0006936)|skeletal muscle myosin thick filament assembly (GO:0030241)|smooth muscle contraction (GO:0006939)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|smooth muscle contractile fiber (GO:0030485)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|motor activity (GO:0003774)|structural constituent of muscle (GO:0008307)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						ATCCAGCTTGCCGGACTGCAA	0.627			T	CBFB	AML																																	ENST00000338282.6				Dom	yes		16	16p13.13-p13.12	4629	T	"""myosin, heavy polypeptide 11, smooth muscle"""			L	CBFB		AML		0				NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						c.(2062-2064)gGc>gAc		myosin, heavy chain 11, smooth muscle							45.0	39.0	41.0					16																	15842021		2197	4300	6497	SO:0001583	missense	4629				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr16:15842021C>T	X69292	CCDS10565.1, CCDS10566.1, CCDS45423.1, CCDS45424.1	16p13.11	2011-09-27	2006-09-29		ENSG00000133392	ENSG00000133392		"""Myosins / Myosin superfamily : Class II"""	7569	protein-coding gene	gene with protein product		160745	"""myosin, heavy polypeptide 11, smooth muscle"""			7684189	Standard	NM_001040113		Approved	SMMHC, SMHC	uc002ddx.3	P35749	OTTHUMG00000129935	ENST00000300036.5:c.2063G>A	16.37:g.15842021C>T	ENSP00000300036:p.Gly688Asp		Somatic				MYH11_ENST00000576790.1_Missense_Mutation_p.G688D|MYH11_ENST00000300036.5_Missense_Mutation_p.G688D|MYH11_ENST00000452625.2_Missense_Mutation_p.G695D|MYH11_ENST00000396324.3_Missense_Mutation_p.G695D	p.G688D	NM_022844.2	NP_074035.1	WXS	Illumina GAIIx	Phase_I	P35749	MYH11_HUMAN			17	2169	-			688			Myosin head-like.		D2JYH7|O00396|O94944|P78422|Q3MIV8|Q3MNF0|Q3MNF1	Missense_Mutation	SNP	ENST00000300036.5	37	c.2063G>A	CCDS10565.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.130748	0.77549	.	.	ENSG00000133392	ENST00000300036;ENST00000338282;ENST00000396320;ENST00000396324;ENST00000452625	D;D;D;D	0.87412	-2.25;-2.25;-2.25;-2.25	4.94	4.94	0.65067	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.92851	0.7726	M	0.72624	2.21	0.80722	D	1	D;D;D;D;D	0.71674	0.998;0.996;0.979;0.996;0.979	D;D;D;D;D	0.79784	0.993;0.993;0.993;0.993;0.993	D	0.93755	0.7062	10	0.87932	D	0	.	17.1766	0.86843	0.0:1.0:0.0:0.0	.	695;688;695;688;695	B1PS43;P35749;Q3MNF1;Q3MIV8;Q3MNF0	.;MYH11_HUMAN;.;.;.	D	688;688;695;695;695	ENSP00000300036:G688D;ENSP00000345136:G688D;ENSP00000379616:G695D;ENSP00000407821:G695D	ENSP00000300036:G688D	G	-	2	0	MYH11	15749522	1.000000	0.71417	0.988000	0.46212	0.457000	0.32468	7.813000	0.86123	2.285000	0.76669	0.561000	0.74099	GGC		0.627	MYH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252192.2	NM_001040113		4	190	0	0	0	1	0	4	190				
ADCY2	108	broad.mit.edu	37	5	7757697	7757697	+	Missense_Mutation	SNP	A	A	G	rs138503341	byFrequency	TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr5:7757697A>G	ENST00000338316.4	+	16	2181	c.2092A>G	c.(2092-2094)Atg>Gtg	p.M698V	ADCY2_ENST00000537121.1_Missense_Mutation_p.M518V	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	698					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)	p.?(1)		NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						CGTGTTCAACATGGTAAGTCC	0.542																																						ENST00000338316.4																			1	Unknown(1)	p.?(1)	haematopoietic_and_lymphoid_tissue(1)	NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						c.(2092-2094)Atg>Gtg		adenylate cyclase 2 (brain)							74.0	72.0	73.0					5																	7757697		2203	4300	6503	SO:0001583	missense	108				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding	g.chr5:7757697A>G	AB028983	CCDS3872.2	5p15.3	2013-02-04			ENSG00000078295	ENSG00000078295	4.6.1.1	"""Adenylate cyclases"""	233	protein-coding gene	gene with protein product		103071				1427768	Standard	NM_020546		Approved	HBAC2, KIAA1060, AC2	uc003jdz.1	Q08462	OTTHUMG00000090476	ENST00000338316.4:c.2092A>G	5.37:g.7757697A>G	ENSP00000342952:p.Met698Val		Somatic				ADCY2_ENST00000537121.1_Missense_Mutation_p.M518V	p.M698V	NM_020546.2	NP_065433.2	WXS	Illumina GAIIx	Phase_I	Q08462	ADCY2_HUMAN			16	2181	+			698					B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	Missense_Mutation	SNP	ENST00000338316.4	37	c.2092A>G	CCDS3872.2	.	.	.	.	.	.	.	.	.	.	A	13.67	2.306963	0.40795	.	.	ENSG00000078295	ENST00000338316;ENST00000541993;ENST00000537121	T;T	0.39592	1.07;1.07	5.58	4.4	0.53042	.	0.040777	0.85682	D	0.000000	T	0.42966	0.1226	M	0.71581	2.175	0.32977	D	0.523155	B;B	0.13145	0.004;0.007	B;B	0.13407	0.009;0.005	T	0.53975	-0.8362	10	0.72032	D	0.01	.	11.0518	0.47894	0.8606:0.0:0.0:0.1393	.	518;698	B7Z2C1;Q08462	.;ADCY2_HUMAN	V	698;531;518	ENSP00000342952:M698V;ENSP00000444803:M518V	ENSP00000342952:M698V	M	+	1	0	ADCY2	7810697	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	7.285000	0.78660	0.920000	0.36970	0.528000	0.53228	ATG		0.542	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206930.2	NM_020546		6	309	0	0	0	1	0	6	309				
HEATR1	55127	broad.mit.edu	37	1	236740143	236740143	+	Silent	SNP	C	C	A			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr1:236740143C>A	ENST00000366582.3	-	21	2976	c.2862G>T	c.(2860-2862)ctG>ctT	p.L954L	HEATR1_ENST00000366581.2_Silent_p.L954L	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	954					rRNA processing (GO:0006364)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			GATCTATTATCAGATAAAACG	0.443																																						ENST00000366582.3																			0				NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87						c.(2860-2862)ctG>ctT		HEAT repeat containing 1							90.0	93.0	92.0					1																	236740143		2203	4300	6503	SO:0001819	synonymous_variant	55127				rRNA processing	nucleolus|ribonucleoprotein complex	protein binding	g.chr1:236740143C>A	BC065205	CCDS31066.1	1q43	2011-08-12			ENSG00000119285	ENSG00000119285			25517	protein-coding gene	gene with protein product	"""UTP10, small subunit (SSU) processome component, homolog (yeast)"""					17699751	Standard	NM_018072		Approved	FLJ10359, BAP28, UTP10	uc001hyd.2	Q9H583	OTTHUMG00000040061	ENST00000366582.3:c.2862G>T	1.37:g.236740143C>A			Somatic				HEATR1_ENST00000366581.2_Silent_p.L954L	p.L954L	NM_018072.5	NP_060542.4	WXS	Illumina GAIIx	Phase_I	Q9H583	HEAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00117)		21	2976	-	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	954					Q5T3Q8|Q6P197|Q9NW23	Silent	SNP	ENST00000366582.3	37	c.2862G>T	CCDS31066.1																																																																																				0.443	HEATR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096635.1	XM_375853		4	112	1	0	0.150653	1	0.152983	4	112				
SRL	6345	broad.mit.edu	37	16	4242615	4242615	+	Missense_Mutation	SNP	C	C	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr16:4242615C>T	ENST00000399609.3	-	6	973	c.961G>A	c.(961-963)Gtg>Atg	p.V321M	SRL_ENST00000537996.1_Missense_Mutation_p.V279M	NM_001098814.1	NP_001092284.1	Q86TD4	SRCA_HUMAN	sarcalumenin	780	Acidic domain, probably binds calcium. {ECO:0000250}.					sarcoplasmic reticulum (GO:0016529)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(3)	21						TTCTCGATCACCTGATTCAGG	0.547																																						ENST00000399609.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(3)	21						c.(961-963)Gtg>Atg		sarcalumenin							108.0	116.0	114.0					16																	4242615		2077	4207	6284	SO:0001583	missense	6345					sarcoplasmic reticulum lumen	GTP binding|GTPase activity	g.chr16:4242615C>T	AK056588	CCDS42113.1	16p13.3	2008-02-05				ENSG00000185739			11295	protein-coding gene	gene with protein product		604992				2762314	Standard	NM_001098814		Approved		uc002cvz.4	Q86TD4		ENST00000399609.3:c.961G>A	16.37:g.4242615C>T	ENSP00000382518:p.Val321Met		Somatic				SRL_ENST00000537996.1_Missense_Mutation_p.V279M	p.V321M	NM_001098814.1	NP_001092284.1	WXS	Illumina GAIIx	Phase_I	Q86TD4	SRCA_HUMAN			6	973	-			780			Acidic domain, probably binds calcium (By similarity).			Missense_Mutation	SNP	ENST00000399609.3	37	c.961G>A	CCDS42113.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.276883	0.80580	.	.	ENSG00000185739	ENST00000399609;ENST00000330063;ENST00000537996	T;T	0.80653	-1.4;-1.4	5.19	5.19	0.71726	.	0.000000	0.64402	U	0.000001	D	0.87834	0.6277	L	0.59436	1.845	0.80722	D	1	D	0.71674	0.998	D	0.69142	0.962	D	0.87668	0.2539	10	0.52906	T	0.07	-20.6259	18.8873	0.92383	0.0:1.0:0.0:0.0	.	321	Q86TD4-2	.	M	321;779;279	ENSP00000382518:V321M;ENSP00000440350:V279M	ENSP00000333285:V779M	V	-	1	0	SRL	4182616	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.932000	0.70121	2.681000	0.91329	0.655000	0.94253	GTG		0.547	SRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438087.1	XM_064152		122	364	0	0	0	1	0	122	364				
RMI2	116028	broad.mit.edu	37	16	11444621	11444621	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr16:11444621G>T	ENST00000312499.5	+	2	459	c.418G>T	c.(418-420)Gaa>Taa	p.E140*	AC009121.1_ENST00000458885.1_RNA|RMI2_ENST00000381820.2_Nonsense_Mutation_p.E77*|RP11-485G7.6_ENST00000574681.1_RNA|RMI2_ENST00000572173.1_Nonsense_Mutation_p.E77*|RMI2_ENST00000576027.1_3'UTR	NM_152308.1	NP_689521.1	Q96E14	RMI2_HUMAN	RecQ mediated genome instability 2	140					DNA replication (GO:0006260)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(1)|kidney(1)|ovary(1)	3						ACTGGAGGTAGAAGATTTACA	0.428																																						ENST00000572173.1																			0				endometrium(1)|kidney(1)|ovary(1)	3						c.(229-231)Gaa>Taa		RecQ mediated genome instability 2							98.0	91.0	93.0					16																	11444621		2197	4300	6497	SO:0001587	stop_gained	116028				DNA replication	nucleus	DNA binding	g.chr16:11444621G>T	AK123764	CCDS10548.1	16p13.13	2013-06-10	2013-06-10	2011-06-09	ENSG00000175643	ENSG00000175643			28349	protein-coding gene	gene with protein product		612426	"""chromosome 16 open reading frame 75"", ""RMI2, RecQ mediated genome instability 2, homolog (S. cerevisiae)"""	C16orf75		18923083, 20826341	Standard	NM_152308		Approved	MGC24665, BLAP18	uc002daw.1	Q96E14	OTTHUMG00000129793	ENST00000312499.5:c.418G>T	16.37:g.11444621G>T	ENSP00000310356:p.Glu140*		Somatic				RMI2_ENST00000381820.2_Nonsense_Mutation_p.E77*|RMI2_ENST00000576027.1_3'UTR|RMI2_ENST00000312499.5_Nonsense_Mutation_p.E140*	p.E77*			WXS	Illumina GAIIx	Phase_I	Q96E14	RMI2_HUMAN			5	874	+			140					B3KVZ6|Q49AE2|Q8TBL0	Nonsense_Mutation	SNP	ENST00000312499.5	37	c.229G>T	CCDS10548.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.844914	0.91197	.	.	ENSG00000175643	ENST00000381820;ENST00000312499	.	.	.	5.92	4.95	0.65309	.	0.060465	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	.	14.7725	0.69691	0.0:0.1452:0.8548:0.0	.	.	.	.	X	77;140	.	ENSP00000310356:E140X	E	+	1	0	RMI2	11352122	1.000000	0.71417	1.000000	0.80357	0.783000	0.44284	8.104000	0.89551	1.460000	0.47911	0.655000	0.94253	GAA		0.428	RMI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252019.1	NM_152308		13	285	1	0	1.61879e-10	1	1.84336e-10	13	285				
PKP2	5318	broad.mit.edu	37	12	32996124	32996124	+	Missense_Mutation	SNP	T	T	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr12:32996124T>C	ENST00000070846.6	-	6	1526	c.1502A>G	c.(1501-1503)gAc>gGc	p.D501G	PKP2_ENST00000340811.4_Intron	NM_004572.3	NP_004563.2	Q99959	PKP2_HUMAN	plakophilin 2	501					adherens junction maintenance (GO:0034334)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential (GO:0086001)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cell-cell signaling involved in cardiac conduction (GO:0086019)|desmosome assembly (GO:0002159)|gap junction assembly (GO:0016264)|heart development (GO:0007507)|intermediate filament bundle assembly (GO:0045110)|lipid homeostasis (GO:0055088)|maintenance of organ identity (GO:0048496)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|positive regulation of sodium ion transport (GO:0010765)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of tight junction assembly (GO:2000810)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	adherens junction (GO:0005912)|cell junction (GO:0030054)|cell-cell junction (GO:0005911)|desmosome (GO:0030057)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intermediate filament binding (GO:0019215)|ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|protein kinase C binding (GO:0005080)|sodium channel regulator activity (GO:0017080)			NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					accatgttggtcaggctggtc	0.582																																						ENST00000070846.6																			0				NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50						c.(1501-1503)gAc>gGc		plakophilin 2							15.0	15.0	15.0					12																	32996124		2197	4284	6481	SO:0001583	missense	5318				cell-cell adhesion	desmosome|integral to membrane|nucleus	binding	g.chr12:32996124T>C	X97675	CCDS8731.1, CCDS31771.1	12p11	2014-09-17				ENSG00000057294		"""Armadillo repeat containing"""	9024	protein-coding gene	gene with protein product		602861				8922383	Standard	NM_001005242		Approved		uc001rlj.4	Q99959	OTTHUMG00000169500	ENST00000070846.6:c.1502A>G	12.37:g.32996124T>C	ENSP00000070846:p.Asp501Gly		Somatic				PKP2_ENST00000340811.4_Intron	p.D501G	NM_004572.3	NP_004563.2	WXS	Illumina GAIIx	Phase_I	Q99959	PKP2_HUMAN			6	1526	-	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)		501					A0AV37|B8QFA1|B8QGS6|B8QGS7|D3DUW9|Q4VC01|Q99960	Missense_Mutation	SNP	ENST00000070846.6	37	c.1502A>G	CCDS8731.1	.	.	.	.	.	.	.	.	.	.	T	0.232	-1.020201	0.02061	.	.	ENSG00000057294	ENST00000070846;ENST00000537278	T	0.42900	0.96	0.51	-1.02	0.10135	Armadillo-type fold (1);	.	.	.	.	T	0.14013	0.0339	N	0.02539	-0.55	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.22487	-1.0215	8	0.19147	T	0.46	.	.	.	.	.	501	Q99959	PKP2_HUMAN	G	501	ENSP00000070846:D501G	ENSP00000070846:D501G	D	-	2	0	PKP2	32887391	0.003000	0.15002	0.003000	0.11579	0.019000	0.09904	-0.447000	0.06828	-0.664000	0.05324	-0.991000	0.02546	GAC		0.582	PKP2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404449.1	NM_004572		8	181	0	0	0	1	0	8	181				
GRID2	2895	broad.mit.edu	37	4	94693450	94693450	+	Missense_Mutation	SNP	G	G	A			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr4:94693450G>A	ENST00000282020.4	+	16	3083	c.2825G>A	c.(2824-2826)cGc>cAc	p.R942H	GRID2_ENST00000510992.1_Missense_Mutation_p.R847H	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	942	Interaction with AP4M1. {ECO:0000250}.				cellular protein localization (GO:0034613)|cerebellar granule cell differentiation (GO:0021707)|glutamate receptor signaling pathway (GO:0007215)|heterophilic cell-cell adhesion (GO:0007157)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|ionotropic glutamate receptor complex (GO:0008328)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|PDZ domain binding (GO:0030165)|scaffold protein binding (GO:0097110)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)		ACTCTTAGCCGCACACTGTCA	0.493																																						ENST00000282020.4																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100						c.(2824-2826)cGc>cAc		glutamate receptor, ionotropic, delta 2	L-Glutamic Acid(DB00142)						103.0	97.0	99.0					4																	94693450		2203	4300	6503	SO:0001583	missense	2895				glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	g.chr4:94693450G>A	AF009014	CCDS3637.1, CCDS68758.1	4q22	2012-08-29			ENSG00000152208	ENSG00000152208		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4576	protein-coding gene	gene with protein product		602368				9465309	Standard	NM_001510		Approved	GluD2, GluR-delta-2	uc011cdt.2	O43424	OTTHUMG00000130975	ENST00000282020.4:c.2825G>A	4.37:g.94693450G>A	ENSP00000282020:p.Arg942His		Somatic				GRID2_ENST00000510992.1_Missense_Mutation_p.R847H	p.R942H	NM_001510.2	NP_001501.2	WXS	Illumina GAIIx	Phase_I	O43424	GRID2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	16	3083	+		Hepatocellular(203;0.114)|all_hematologic(202;0.177)	942			Interaction with AP4M1 (By similarity).		E9PH24|Q4KKU8|Q4KKU9|Q4KKV0|Q59FZ1	Missense_Mutation	SNP	ENST00000282020.4	37	c.2825G>A	CCDS3637.1	.	.	.	.	.	.	.	.	.	.	G	18.64	3.666697	0.67814	.	.	ENSG00000152208	ENST00000282020;ENST00000510992	T;T	0.17054	2.35;2.3	5.52	5.52	0.82312	.	0.190903	0.49305	D	0.000141	T	0.33352	0.0860	L	0.32530	0.975	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.69479	0.964;0.964	T	0.04165	-1.0972	10	0.87932	D	0	.	19.4447	0.94841	0.0:0.0:1.0:0.0	.	847;942	E9PH24;O43424	.;GRID2_HUMAN	H	942;847	ENSP00000282020:R942H;ENSP00000421257:R847H	ENSP00000282020:R942H	R	+	2	0	GRID2	94912473	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.429000	0.97481	2.588000	0.87417	0.650000	0.86243	CGC		0.493	GRID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253588.2			5	294	0	0	0	1	0	5	294				
CEP250	11190	broad.mit.edu	37	20	34095955	34095955	+	Missense_Mutation	SNP	G	G	A			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr20:34095955G>A	ENST00000397527.1	+	32	7562	c.6842G>A	c.(6841-6843)cGg>cAg	p.R2281Q	CEP250_ENST00000342580.4_Missense_Mutation_p.R2225Q	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	2281					centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|protein localization (GO:0008104)|protein localization to organelle (GO:0033365)|regulation of centriole-centriole cohesion (GO:0030997)	centriole (GO:0005814)|centrosome (GO:0005813)|cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)|protein complex (GO:0043234)|spindle pole centrosome (GO:0031616)	protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			GCAGTGGCCCGGCTGGAGATT	0.582																																						ENST00000397527.1																			0				NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(6841-6843)cGg>cAg		centrosomal protein 250kDa							129.0	133.0	131.0					20																	34095955		2203	4300	6503	SO:0001583	missense	11190				centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding	g.chr20:34095955G>A	AF022655	CCDS13255.1	20q11.22	2014-02-20	2006-01-11	2006-01-11	ENSG00000126001	ENSG00000126001			1859	protein-coding gene	gene with protein product		609689	"""centrosomal protein 2"""	CEP2		9506584, 9647649	Standard	NM_007186		Approved	C-NAP1	uc021wco.1	Q9BV73	OTTHUMG00000032343	ENST00000397527.1:c.6842G>A	20.37:g.34095955G>A	ENSP00000380661:p.Arg2281Gln		Somatic				CEP250_ENST00000342580.4_Missense_Mutation_p.R2225Q	p.R2281Q	NM_007186.3	NP_009117.2	WXS	Illumina GAIIx	Phase_I	Q9BV73	CP250_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.0106)		32	7562	+	Lung NSC(9;0.00156)|all_lung(11;0.00243)		2281					E1P5Q3|O14812|O60588|Q9H450	Missense_Mutation	SNP	ENST00000397527.1	37	c.6842G>A	CCDS13255.1	.	.	.	.	.	.	.	.	.	.	g	4.853	0.158605	0.09236	.	.	ENSG00000126001	ENST00000397527;ENST00000342580;ENST00000422671	T;T;T	0.43294	2.74;2.77;0.95	4.37	-3.12	0.05282	.	2.046660	0.02576	N	0.098291	T	0.23572	0.0570	N	0.08118	0	0.09310	N	1	B	0.15719	0.014	B	0.04013	0.001	T	0.17745	-1.0359	10	0.21014	T	0.42	.	10.5546	0.45110	0.4202:0.0:0.5798:0.0	.	2281	Q9BV73	CP250_HUMAN	Q	2281;2225;769	ENSP00000380661:R2281Q;ENSP00000341541:R2225Q;ENSP00000395992:R769Q	ENSP00000341541:R2225Q	R	+	2	0	CEP250	33559369	0.000000	0.05858	0.014000	0.15608	0.162000	0.22319	-0.457000	0.06745	-0.906000	0.03866	-0.372000	0.07161	CGG		0.582	CEP250-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078877.7	NM_007186		5	531	0	0	0	1	0	5	531				
KNTC1	9735	broad.mit.edu	37	12	123109143	123109143	+	Splice_Site	SNP	A	A	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr12:123109143A>T	ENST00000333479.7	+	63	6692		c.e63-1		HCAR1_ENST00000356987.2_Intron|KNTC1_ENST00000436959.3_Splice_Site|KNTC1_ENST00000534995.1_Splice_Site|KNTC1_ENST00000450485.2_Splice_Site|KNTC1_ENST00000537348.1_Splice_Site	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1						mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|protein complex assembly (GO:0006461)|regulation of exit from mitosis (GO:0007096)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		TTGATTTTGTAGTTTAGATGA	0.463																																						ENST00000333479.7																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72						c.e63-1		kinetochore associated 1							39.0	41.0	40.0					12																	123109143		1896	4097	5993	SO:0001630	splice_region_variant	9735				cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding	g.chr12:123109143A>T		CCDS45002.1	12q24.31	2013-01-17			ENSG00000184445	ENSG00000184445			17255	protein-coding gene	gene with protein product	"""rough deal homolog (Drosophila)"""	607363				11146660, 11590237	Standard	NM_014708		Approved	KIAA0166, ROD	uc001ucv.3	P50748	OTTHUMG00000168861	ENST00000333479.7:c.6516-1A>T	12.37:g.123109143A>T			Somatic				KNTC1_ENST00000450485.2_Splice_Site|KNTC1_ENST00000534995.1_Splice_Site|KNTC1_ENST00000436959.3_Splice_Site|HCAR1_ENST00000356987.2_Intron|KNTC1_ENST00000537348.1_Splice_Site		NM_014708.4	NP_055523.1	WXS	Illumina GAIIx	Phase_I	P50748	KNTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)	63	6692	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)							A7E2C4|B3KSG2	Splice_Site	SNP	ENST00000333479.7	37		CCDS45002.1	.	.	.	.	.	.	.	.	.	.	A	15.87	2.961013	0.53400	.	.	ENSG00000184445	ENST00000450485;ENST00000333479;ENST00000436959;ENST00000534995	.	.	.	5.1	5.1	0.69264	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.9993	0.64424	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	KNTC1	121675096	1.000000	0.71417	0.080000	0.20451	0.232000	0.25224	5.186000	0.65082	2.057000	0.61298	0.459000	0.35465	.		0.463	KNTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396110.2		Intron	4	74	0	0	0	1	0	4	74				
CHAT	1103	broad.mit.edu	37	10	50828642	50828642	+	Silent	SNP	C	C	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr10:50828642C>T	ENST00000337653.2	+	4	834	c.681C>T	c.(679-681)ggC>ggT	p.G227G	CHAT_ENST00000395562.2_Silent_p.G145G|CHAT_ENST00000351556.3_Silent_p.G109G|CHAT_ENST00000455728.2_Silent_p.G109G|CHAT_ENST00000460699.1_3'UTR|CHAT_ENST00000395559.2_Silent_p.G109G|CHAT_ENST00000339797.1_Silent_p.G109G	NM_001142929.1|NM_020549.4	NP_001136401.1|NP_065574	P28329	CLAT_HUMAN	choline O-acetyltransferase	227					adult walking behavior (GO:0007628)|dendrite development (GO:0016358)|establishment of synaptic specificity at neuromuscular junction (GO:0007529)|glycerophospholipid biosynthetic process (GO:0046474)|muscle organ development (GO:0007517)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|rhythmic behavior (GO:0007622)|rhythmic excitation (GO:0043179)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	choline O-acetyltransferase activity (GO:0004102)			central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)|Nicotine(DB00184)	ACTTCCCTGGCACCGATGACC	0.597																																						ENST00000395562.2																			0				central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56						c.(433-435)ggC>ggT		choline O-acetyltransferase	Choline(DB00122)						114.0	86.0	96.0					10																	50828642		2203	4300	6503	SO:0001819	synonymous_variant	1103				neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity	g.chr10:50828642C>T	AF305907	CCDS7232.1, CCDS7233.1, CCDS44389.1	10q11.2	2010-05-11	2010-05-11		ENSG00000070748	ENSG00000070748	2.3.1.6		1912	protein-coding gene	gene with protein product		118490	"""choline acetyltransferase"""			1840566	Standard	NM_020984		Approved		uc001jhz.2	P28329	OTTHUMG00000018198	ENST00000337653.2:c.681C>T	10.37:g.50828642C>T			Somatic				CHAT_ENST00000339797.1_Silent_p.G109G|CHAT_ENST00000337653.2_Silent_p.G227G|CHAT_ENST00000351556.3_Silent_p.G109G|CHAT_ENST00000460699.1_3'UTR|CHAT_ENST00000455728.2_Silent_p.G109G|CHAT_ENST00000395559.2_Silent_p.G109G	p.G145G	NM_001142933.1|NM_001142934.1	NP_001136405.1|NP_001136406.1	WXS	Illumina GAIIx	Phase_I	P28329	CLAT_HUMAN		GBM - Glioblastoma multiforme(2;0.000585)	5	904	+		all_neural(218;0.107)	227					A2BDF4|A2BDF5|Q16488|Q9BQ23|Q9BQ35|Q9BQE1	Silent	SNP	ENST00000337653.2	37	c.435C>T	CCDS7232.1																																																																																				0.597	CHAT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047997.1	NM_020549		5	218	0	0	0	1	0	5	218				
CCDC73	493860	broad.mit.edu	37	11	32635105	32635105	+	Missense_Mutation	SNP	G	G	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr11:32635105G>C	ENST00000335185.5	-	16	2802	c.2759C>G	c.(2758-2760)aCa>aGa	p.T920R	CCDC73_ENST00000534415.1_5'Flank	NM_001008391.2	NP_001008392.2	Q6ZRK6	CCD73_HUMAN	coiled-coil domain containing 73	920										NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51	Breast(20;0.112)					ACTGCTCGCTGTTTGACTTTC	0.373																																						ENST00000335185.5																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51						c.(2758-2760)aCa>aGa		coiled-coil domain containing 73							126.0	117.0	120.0					11																	32635105		1832	4072	5904	SO:0001583	missense	493860							g.chr11:32635105G>C	AK128159	CCDS41630.1	11p13	2006-02-11			ENSG00000186714	ENSG00000186714			23261	protein-coding gene	gene with protein product		612328					Standard	NM_001008391		Approved	NY-SAR-79	uc001mtv.4	Q6ZRK6	OTTHUMG00000166279	ENST00000335185.5:c.2759C>G	11.37:g.32635105G>C	ENSP00000335325:p.Thr920Arg		Somatic					p.T920R	NM_001008391.2	NP_001008392.2	WXS	Illumina GAIIx	Phase_I	Q6ZRK6	CCD73_HUMAN			16	2802	-	Breast(20;0.112)		920					Q6P5Q7|Q6ZMW0|Q86WE7	Missense_Mutation	SNP	ENST00000335185.5	37	c.2759C>G	CCDS41630.1	.	.	.	.	.	.	.	.	.	.	G	14.11	2.437528	0.43224	.	.	ENSG00000186714	ENST00000335185	.	.	.	5.34	3.48	0.39840	.	0.258635	0.32852	N	0.005579	T	0.65852	0.2731	M	0.61703	1.905	0.58432	D	0.999999	D	0.69078	0.997	P	0.61201	0.885	T	0.65471	-0.6160	9	0.87932	D	0	.	6.7007	0.23223	0.1575:0.1455:0.697:0.0	.	920	Q6ZRK6	CCD73_HUMAN	R	920	.	ENSP00000335325:T920R	T	-	2	0	CCDC73	32591681	0.913000	0.31002	0.967000	0.41034	0.594000	0.36715	1.110000	0.31147	0.633000	0.30452	0.544000	0.68410	ACA		0.373	CCDC73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388874.2	NM_001008391		5	291	0	0	0	1	0	5	291				
MORC4	79710	broad.mit.edu	37	X	106186409	106186409	+	Missense_Mutation	SNP	T	T	G			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chrX:106186409T>G	ENST00000355610.4	-	15	1986	c.1712A>C	c.(1711-1713)gAa>gCa	p.E571A	MORC4_ENST00000255495.7_Missense_Mutation_p.E571A|MORC4_ENST00000535534.1_Missense_Mutation_p.E319A	NM_001085354.2|NM_024657.4	NP_001078823.1|NP_078933.3	Q8TE76	MORC4_HUMAN	MORC family CW-type zinc finger 4	571						nucleus (GO:0005634)	zinc ion binding (GO:0008270)			endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	28						CTCCACCGGTTCTTCACCTAG	0.438																																						ENST00000355610.4																			0				endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	28						c.(1711-1713)gAa>gCa		MORC family CW-type zinc finger 4							86.0	89.0	88.0					X																	106186409		2202	4300	6502	SO:0001583	missense	79710						ATP binding|zinc ion binding	g.chrX:106186409T>G	AK021627	CCDS14525.2, CCDS48146.1	Xq22.3	2008-02-05	2005-06-15	2005-06-15	ENSG00000133131	ENSG00000133131			23485	protein-coding gene	gene with protein product			"""zinc finger, CW-type with coiled-coil domain 2"", ""zinc finger, CW type with coiled-coil domain 2"""	ZCWCC2		14607086	Standard	NM_024657		Approved	ZCW4, FLJ11565	uc004emp.4	Q8TE76	OTTHUMG00000022155	ENST00000355610.4:c.1712A>C	X.37:g.106186409T>G	ENSP00000347821:p.Glu571Ala		Somatic				MORC4_ENST00000255495.7_Missense_Mutation_p.E571A|MORC4_ENST00000535534.1_Missense_Mutation_p.E319A	p.E571A	NM_001085354.2|NM_024657.4	NP_001078823.1|NP_078933.3	WXS	Illumina GAIIx	Phase_I	Q8TE76	MORC4_HUMAN			15	1986	-			571					A1YR23|A1YR24|H7BXF1|Q5JUK7|Q96MZ2|Q9HAI7	Missense_Mutation	SNP	ENST00000355610.4	37	c.1712A>C	CCDS14525.2	.	.	.	.	.	.	.	.	.	.	T	16.01	3.000677	0.54254	.	.	ENSG00000133131	ENST00000355610;ENST00000535534;ENST00000255495	T;T;T	0.35421	2.58;1.31;2.55	5.23	5.23	0.72850	.	0.000000	0.46758	D	0.000268	T	0.51702	0.1690	L	0.54323	1.7	0.40224	D	0.977778	D;D;D	0.69078	0.997;0.997;0.997	D;D;D	0.73380	0.98;0.98;0.98	T	0.52668	-0.8545	10	0.45353	T	0.12	-14.4658	10.4803	0.44689	0.0:0.0:0.0:1.0	.	319;571;571	A1YR24;A1YR23;Q8TE76	.;.;MORC4_HUMAN	A	571;319;571	ENSP00000347821:E571A;ENSP00000440359:E319A;ENSP00000255495:E571A	ENSP00000255495:E571A	E	-	2	0	MORC4	106073065	1.000000	0.71417	0.977000	0.42913	0.869000	0.49853	2.574000	0.46016	1.743000	0.51761	0.441000	0.28932	GAA		0.438	MORC4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057816.3	NM_024657		12	196	0	0	0	1	0	12	196				
TRAF3IP1	26146	broad.mit.edu	37	2	239234537	239234537	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr2:239234537C>T	ENST00000373327.4	+	3	502	c.280C>T	c.(280-282)Cga>Tga	p.R94*	TRAF3IP1_ENST00000391994.2_Nonsense_Mutation_p.R94*|TRAF3IP1_ENST00000391993.3_Nonsense_Mutation_p.R94*	NM_015650.3	NP_056465.2	Q8TDR0	MIPT3_HUMAN	TNF receptor-associated factor 3 interacting protein 1	94	Abolishes microtubules-binding when missing.				cilium assembly (GO:0042384)|embryonic camera-type eye development (GO:0031076)|embryonic digit morphogenesis (GO:0042733)|embryonic heart tube development (GO:0035050)|intraciliary transport (GO:0042073)|negative regulation of defense response to virus (GO:0050687)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|neural tube patterning (GO:0021532)|post-anal tail morphogenesis (GO:0036342)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|skin(2)	23		all_epithelial(40;3.22e-10)|Breast(86;0.000523)|Renal(207;0.00571)|Ovarian(221;0.156)|all_hematologic(139;0.182)		Epithelial(121;9.92e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.85e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.01e-07)|BRCA - Breast invasive adenocarcinoma(100;7.72e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0184)		CAAACCAGCCCGAATCGTGGC	0.473																																						ENST00000373327.4																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|skin(2)	23						c.(280-282)Cga>Tga		TNF receptor-associated factor 3 interacting protein 1							82.0	75.0	78.0					2																	239234537		2203	4300	6503	SO:0001587	stop_gained	26146					cytoplasm|cytoskeleton	protein binding	g.chr2:239234537C>T	AF230877	CCDS33415.1, CCDS46557.1	2q37.3	2014-02-21			ENSG00000204104	ENSG00000204104		"""Intraflagellar transport homologs"""	17861	protein-coding gene	gene with protein product	"""microtubule interacting protein that associates with TRAF3"""	607380				10791955, 12935900	Standard	NM_015650		Approved	MIP-T3, DKFZP434F124, MIPT3, IFT54	uc002vye.3	Q8TDR0	OTTHUMG00000152872	ENST00000373327.4:c.280C>T	2.37:g.239234537C>T	ENSP00000362424:p.Arg94*		Somatic				TRAF3IP1_ENST00000391994.2_Nonsense_Mutation_p.R94*|TRAF3IP1_ENST00000391993.3_Nonsense_Mutation_p.R94*	p.R94*	NM_015650.3	NP_056465.2	WXS	Illumina GAIIx	Phase_I	Q8TDR0	MIPT3_HUMAN		Epithelial(121;9.92e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.85e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.01e-07)|BRCA - Breast invasive adenocarcinoma(100;7.72e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0184)	3	502	+		all_epithelial(40;3.22e-10)|Breast(86;0.000523)|Renal(207;0.00571)|Ovarian(221;0.156)|all_hematologic(139;0.182)	94			Abolishes microtubules-binding when missing.		Q6PCT1|Q7L8N9|Q9NRD6|Q9Y4Q1	Nonsense_Mutation	SNP	ENST00000373327.4	37	c.280C>T	CCDS33415.1	.	.	.	.	.	.	.	.	.	.	C	37	6.215398	0.97385	.	.	ENSG00000204104	ENST00000391993;ENST00000373327;ENST00000391994;ENST00000440998	.	.	.	4.33	1.16	0.20824	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.5934	12.6887	0.56962	0.4431:0.5569:0.0:0.0	.	.	.	.	X	94	.	ENSP00000362424:R94X	R	+	1	2	TRAF3IP1	238899276	0.872000	0.30054	0.056000	0.19401	0.927000	0.56198	1.757000	0.38400	0.236000	0.21180	-0.181000	0.13052	CGA		0.473	TRAF3IP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000328312.1	NM_015650		4	210	0	0	0	1	0	4	210				
KIR3DX1	90011	broad.mit.edu	37	19	55048303	55048303	+	Silent	SNP	C	C	T	rs374837537		TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr19:55048303C>T	ENST00000335056.3	+	5	908	c.870C>T	c.(868-870)ggC>ggT	p.G290G	KIR3DX1_ENST00000482404.1_3'UTR			Q9H7L2	KI3X1_HUMAN	killer cell immunoglobulin-like receptor, three domains, X1	290	Ig-like C2-type 2.					extracellular region (GO:0005576)				endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|skin(1)	24				GBM - Glioblastoma multiforme(193;0.099)		CAGTCCCTGGCGGGACCTATA	0.582																																					Colon(183;529 2002 28270 32358 35845)|Esophageal Squamous(50;443 1006 2278 10294 37938)	ENST00000335056.3																			0				endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|skin(1)	24						c.(868-870)ggC>ggT				C		1,3839		0,1,1919	86.0	84.0	85.0			-3.6	0.0	19		85	0,8282		0,0,4141	no	intergenic				0,1,6060	TT,TC,CC		0.0,0.026,0.0082			55048303	1,12121	1920	4141	6061	SO:0001819	synonymous_variant	90011							g.chr19:55048303C>T	BC033195		19q13.42	2013-03-26	2006-09-12	2006-09-12	ENSG00000104970	ENSG00000104970		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	25043	other	unknown			"""leukocyte receptor cluster (LRC) member 12"""	LENG12		11441184	Standard	NR_026716		Approved	FLJ00060	uc010erm.2	Q9H7L2	OTTHUMG00000065696	ENST00000335056.3:c.870C>T	19.37:g.55048303C>T			Somatic				KIR3DX1_ENST00000482404.1_3'UTR	p.G290G			WXS	Illumina GAIIx	Phase_I				GBM - Glioblastoma multiforme(193;0.099)	5	908	+								B7WNL0|Q8N0S4	Silent	SNP	ENST00000335056.3	37	c.870C>T																																																																																					0.582	KIR3DX1-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000140800.2	NR_026716		6	159	0	0	0	1	0	6	159				
ANGPT4	51378	broad.mit.edu	37	20	858848	858848	+	Silent	SNP	G	G	A			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr20:858848G>A	ENST00000381922.3	-	7	1278	c.1176C>T	c.(1174-1176)gcC>gcT	p.A392A	ANGPT4_ENST00000546022.1_Silent_p.A392A	NM_015985.2	NP_057069.1	Q9Y264	ANGP4_HUMAN	angiopoietin 4	392	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cellular response to hypoxia (GO:0071456)|leukocyte migration (GO:0050900)|negative regulation of angiogenesis (GO:0016525)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	receptor tyrosine kinase binding (GO:0030971)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	27						GTTCGTACTGGGCATAGGCCT	0.622																																					Pancreas(181;481 2077 3259 31286 49856)	ENST00000381922.3																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	27						c.(1174-1176)gcC>gcT		angiopoietin 4							61.0	48.0	52.0					20																	858848		2203	4300	6503	SO:0001819	synonymous_variant	51378				anti-apoptosis|blood coagulation|cellular response to hypoxia|leukocyte migration|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|signal transduction	extracellular space	receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity	g.chr20:858848G>A	AF074332	CCDS13009.1	20p13	2013-02-06			ENSG00000101280	ENSG00000101280		"""Fibrinogen C domain containing"""	487	protein-coding gene	gene with protein product		603705				10051567, 10218486	Standard	NM_015985		Approved		uc002wei.3	Q9Y264	OTTHUMG00000031652	ENST00000381922.3:c.1176C>T	20.37:g.858848G>A			Somatic				ANGPT4_ENST00000546022.1_Silent_p.A392A	p.A392A	NM_015985.2	NP_057069.1	WXS	Illumina GAIIx	Phase_I	Q9Y264	ANGP4_HUMAN			7	1278	-			392			Fibrinogen C-terminal.		B4E3J9|Q5TFF4|Q9H4Z4	Silent	SNP	ENST00000381922.3	37	c.1176C>T	CCDS13009.1																																																																																				0.622	ANGPT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077493.1	NM_015985		4	217	0	0	0	1	0	4	217				
NDUFV3	4731	broad.mit.edu	37	21	44324239	44324239	+	Intron	SNP	G	G	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr21:44324239G>T	ENST00000340344.4	+	3	235				NDUFV3_ENST00000460259.1_3'UTR|NDUFV3_ENST00000354250.2_Missense_Mutation_p.D373Y	NM_001001503.1	NP_001001503.1	P56181	NDUV3_HUMAN	NADH dehydrogenase (ubiquinone) flavoprotein 3, 10kDa						cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	10				STAD - Stomach adenocarcinoma(101;0.0606)		AATCGTGGAAGATCAGATACC	0.572																																						ENST00000354250.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	10						c.(1117-1119)Gat>Tat		NADH dehydrogenase (ubiquinone) flavoprotein 3, 10kDa	NADH(DB00157)						73.0	66.0	69.0					21																	44324239		2203	4300	6503	SO:0001627	intron_variant	4731				mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I|nucleus	NADH dehydrogenase (ubiquinone) activity	g.chr21:44324239G>T		CCDS33572.1, CCDS33573.1	21q22.3	2011-07-04	2002-08-29		ENSG00000160194	ENSG00000160194	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7719	protein-coding gene	gene with protein product	"""complex I 10kDa subunit"""	602184	"""NADH dehydrogenase (ubiquinone) flavoprotein 3 (10kD)"""			9344673	Standard	NM_021075		Approved	CI-10k	uc002zcm.3	P56181	OTTHUMG00000086823	ENST00000340344.4:c.170-4735G>T	21.37:g.44324239G>T			Somatic				NDUFV3_ENST00000340344.3_Intron|NDUFV3_ENST00000460259.1_3'UTR	p.D373Y	NM_021075.3	NP_066553.3	WXS	Illumina GAIIx	Phase_I	P56181	NDUV3_HUMAN		STAD - Stomach adenocarcinoma(101;0.0606)	3	1186	+			0					A8K0M1|J3KNX7|Q6FGD3|Q8WU60|Q9HCR5	Missense_Mutation	SNP	ENST00000340344.4	37	c.1117G>T	CCDS33573.1	.	.	.	.	.	.	.	.	.	.	G	13.68	2.309437	0.40895	.	.	ENSG00000160194	ENST00000354250	.	.	.	4.13	3.21	0.36854	.	0.567892	0.15808	N	0.243603	T	0.48132	0.1483	L	0.32530	0.975	0.20074	N	0.999932	D	0.57571	0.98	P	0.62184	0.899	T	0.30179	-0.9987	9	0.72032	D	0.01	-4.3778	10.2001	0.43077	0.0:0.2039:0.7961:0.0	.	373	P56181-2	.	Y	373	.	ENSP00000346196:D373Y	D	+	1	0	NDUFV3	43197308	0.875000	0.30112	0.063000	0.19743	0.004000	0.04260	1.559000	0.36320	0.992000	0.38840	0.561000	0.74099	GAT		0.572	NDUFV3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195448.2			46	46	1	0	2.2618e-39	1	2.68418e-39	46	46				
CCDC155	147872	broad.mit.edu	37	19	49900970	49900970	+	Missense_Mutation	SNP	G	G	A	rs202084331		TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr19:49900970G>A	ENST00000447857.3	+	6	668	c.463G>A	c.(463-465)Gag>Aag	p.E155K		NM_144688.4	NP_653289.3	Q8N6L0	KASH5_HUMAN	coiled-coil domain containing 155	155						chromosome, telomeric region (GO:0000781)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(10)|ovary(1)|stomach(1)	22						CCCCAGACCCGAGCTGTACCT	0.637																																						ENST00000447857.3																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(10)|ovary(1)|stomach(1)	22						c.(463-465)Gag>Aag		coiled-coil domain containing 155							102.0	117.0	112.0					19																	49900970		1993	4153	6146	SO:0001583	missense	147872					integral to membrane	calcium ion binding	g.chr19:49900970G>A		CCDS46140.1	19q13.33	2014-01-21			ENSG00000161609	ENSG00000161609			26520	protein-coding gene	gene with protein product							Standard	NM_144688		Approved	FLJ32658, KASH5	uc002pnm.2	Q8N6L0	OTTHUMG00000183170	ENST00000447857.3:c.463G>A	19.37:g.49900970G>A	ENSP00000404220:p.Glu155Lys		Somatic					p.E155K	NM_144688.4	NP_653289.3	WXS	Illumina GAIIx	Phase_I	Q8N6L0	CC155_HUMAN			6	668	+			155					Q96MC3	Missense_Mutation	SNP	ENST00000447857.3	37	c.463G>A	CCDS46140.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.151096	0.78001	.	.	ENSG00000161609	ENST00000447857	T	0.34667	1.35	4.76	4.76	0.60689	.	0.308243	0.27710	N	0.018166	T	0.56455	0.1986	M	0.73962	2.25	0.35423	D	0.793379	D;D;D	0.89917	0.999;0.999;1.0	D;D;P	0.78314	0.991;0.991;0.839	T	0.60772	-0.7197	10	0.21014	T	0.42	0.2795	13.447	0.61146	0.0:0.0:1.0:0.0	.	155;155;235	C9JGW3;Q8N6L0;Q6ZRK4	.;CC155_HUMAN;.	K	155	ENSP00000404220:E155K	ENSP00000404220:E155K	E	+	1	0	CCDC155	54592782	0.998000	0.40836	0.982000	0.44146	0.605000	0.37080	4.424000	0.59868	2.632000	0.89209	0.561000	0.74099	GAG		0.637	CCDC155-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465436.2	NM_144688		5	266	0	0	0	1	0	5	266				
FAT1	2195	broad.mit.edu	37	4	187630625	187630625	+	Missense_Mutation	SNP	T	T	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr4:187630625T>C	ENST00000441802.2	-	2	566	c.357A>G	c.(355-357)atA>atG	p.I119M		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	119	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GTGCTTTCACTATCAATGTGT	0.408										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	ENST00000441802.2																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						c.(355-357)atA>atG		FAT atypical cadherin 1							125.0	125.0	125.0					4																	187630625		1978	4162	6140	SO:0001583	missense	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187630625T>C	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.357A>G	4.37:g.187630625T>C	ENSP00000406229:p.Ile119Met	HNSCC(5;0.00058)	Somatic					p.I119M	NM_005245.3	NP_005236.2	WXS	Illumina GAIIx	Phase_I	Q14517	FAT1_HUMAN			2	566	-			119			Cadherin 1.			Missense_Mutation	SNP	ENST00000441802.2	37	c.357A>G	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	T	7.720	0.697069	0.15106	.	.	ENSG00000083857	ENST00000441802;ENST00000260147;ENST00000509647	T;T	0.61510	0.1;0.1	5.0	-5.92	0.02261	Cadherin (3);Cadherin-like (1);	0.258674	0.43260	D	0.000583	T	0.39835	0.1093	L	0.45698	1.435	0.26769	N	0.969839	B	0.32010	0.351	B	0.38056	0.264	T	0.28396	-1.0045	10	0.41790	T	0.15	.	1.6897	0.02849	0.3799:0.0814:0.3049:0.2338	.	119	Q14517	FAT1_HUMAN	M	119	ENSP00000406229:I119M;ENSP00000423736:I119M	ENSP00000260147:I119M	I	-	3	3	FAT1	187867619	0.210000	0.23517	0.249000	0.24280	0.367000	0.29736	-0.393000	0.07305	-0.557000	0.06126	0.482000	0.46254	ATA		0.408	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		3	342	0	0	0	1	0	3	342				
NUP210L	91181	broad.mit.edu	37	1	154067513	154067513	+	Silent	SNP	C	C	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr1:154067513C>T	ENST00000368559.3	-	15	2156	c.2085G>A	c.(2083-2085)gcG>gcA	p.A695A	NUP210L_ENST00000271854.3_Silent_p.A695A	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	695					Sertoli cell development (GO:0060009)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			CTGTCTTCTCCGCATTCAATT	0.473																																						ENST00000368559.3																			0				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80						c.(2083-2085)gcG>gcA		nucleoporin 210kDa-like							86.0	80.0	82.0					1																	154067513		1845	4097	5942	SO:0001819	synonymous_variant	91181					integral to membrane		g.chr1:154067513C>T	AK125924	CCDS41399.1, CCDS53370.1	1q21.3	2008-02-05			ENSG00000143552	ENSG00000143552			29915	protein-coding gene	gene with protein product							Standard	NM_207308		Approved		uc001fdw.3	Q5VU65	OTTHUMG00000035852	ENST00000368559.3:c.2085G>A	1.37:g.154067513C>T			Somatic				NUP210L_ENST00000271854.3_Silent_p.A695A	p.A695A	NM_207308.2	NP_997191.2	WXS	Illumina GAIIx	Phase_I	Q5VU65	P210L_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)		15	2156	-	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		695					E7EP56|Q5T4L7|Q6ZRN1|Q6ZRT4|Q6ZU81|Q8NDI6|Q9UF31	Silent	SNP	ENST00000368559.3	37	c.2085G>A	CCDS41399.1																																																																																				0.473	NUP210L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087270.3	NM_207308		5	30	0	0	0	1	0	5	30				
ZBTB11	27107	broad.mit.edu	37	3	101378874	101378874	+	Splice_Site	SNP	T	T	A			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr3:101378874T>A	ENST00000312938.4	-	6	2381		c.e6-2		Y_RNA_ENST00000364251.1_RNA	NM_014415.3	NP_055230.2	O95625	ZBT11_HUMAN	zinc finger and BTB domain containing 11						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						TTTACACAACTAAAAGAAAAA	0.323																																						ENST00000312938.4																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.e6-2		zinc finger and BTB domain containing 11							52.0	54.0	53.0					3																	101378874		2203	4300	6503	SO:0001630	splice_region_variant	27107				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:101378874T>A	U69274	CCDS2943.1	3q12.3	2013-01-09			ENSG00000066422	ENSG00000066422		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	16740	protein-coding gene	gene with protein product							Standard	NM_014415		Approved	ZNF-U69274, ZNF913	uc003dve.4	O95625	OTTHUMG00000159133	ENST00000312938.4:c.1801-2A>T	3.37:g.101378874T>A			Somatic						NM_014415.3	NP_055230.2	WXS	Illumina GAIIx	Phase_I	O95625	ZBT11_HUMAN			6	2381	-								Q2NKP9	Splice_Site	SNP	ENST00000312938.4	37		CCDS2943.1	.	.	.	.	.	.	.	.	.	.	T	20.9	4.062740	0.76187	.	.	ENSG00000066422	ENST00000312938	.	.	.	5.95	5.95	0.96441	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.4052	0.83662	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	ZBTB11	102861564	1.000000	0.71417	0.993000	0.49108	0.947000	0.59692	7.162000	0.77515	2.279000	0.76181	0.402000	0.26972	.		0.323	ZBTB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353441.2	NM_014415	Intron	5	88	0	0	0	1	0	5	88				
SALL2	6297	broad.mit.edu	37	14	22005036	22005036	+	Missense_Mutation	SNP	C	C	T	rs201628931		TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr14:22005036C>T	ENST00000327430.3	-	1	314	c.20G>A	c.(19-21)cGg>cAg	p.R7Q	SALL2_ENST00000317492.5_Missense_Mutation_p.R7Q	NM_005407.1	NP_005398.1	Q9Y467	SALL2_HUMAN	spalt-like transcription factor 2	7					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2)	43	all_cancers(95;0.000662)			GBM - Glioblastoma multiforme(265;0.0151)		TTGGGGTTTCCGCTGCTTTCG	0.627																																						ENST00000327430.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2)	43						c.(19-21)cGg>cAg		spalt-like transcription factor 2							94.0	89.0	91.0					14																	22005036		2203	4300	6503	SO:0001583	missense	6297						DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr14:22005036C>T	AB002358	CCDS32045.1	14q11.1-q12.1	2013-10-17	2013-10-17		ENSG00000165821	ENSG00000165821		"""Zinc fingers, C2H2-type"""	10526	protein-coding gene	gene with protein product		602219	"""sal (Drosophila)-like 2"", ""sal-like 2 (Drosophila)"""			8975705	Standard	XM_005267983		Approved	KIAA0360, Hsal2, ZNF795	uc001wbe.3	Q9Y467	OTTHUMG00000168826	ENST00000327430.3:c.20G>A	14.37:g.22005036C>T	ENSP00000333537:p.Arg7Gln		Somatic				SALL2_ENST00000317492.5_Missense_Mutation_p.R7Q	p.R7Q	NM_005407.1	NP_005398.1	WXS	Illumina GAIIx	Phase_I	Q9Y467	SALL2_HUMAN		GBM - Glioblastoma multiforme(265;0.0151)	1	314	-	all_cancers(95;0.000662)		7					B2RMX6|B9EGK8|Q8N656|Q9Y4G1	Missense_Mutation	SNP	ENST00000327430.3	37	c.20G>A	CCDS32045.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.7|20.7	4.039499|4.039499	0.75617|0.75617	.|.	.|.	ENSG00000165821|ENSG00000165821	ENST00000546363|ENST00000327430;ENST00000317492;ENST00000541876	.|T;T	.|0.33654	.|3.78;1.4	4.9|4.9	4.01|4.01	0.46588|0.46588	.|.	.|0.000000	.|0.33813	.|U	.|0.004534	T|T	0.41834|0.41834	0.1176|0.1176	L|L	0.27053|0.27053	0.805|0.805	0.80722|0.80722	D|D	1|1	.|D;P	.|0.64830	.|0.994;0.663	.|D;B	.|0.62955	.|0.909;0.046	T|T	0.32877|0.32877	-0.9890|-0.9890	5|10	.|0.59425	.|D	.|0.04	-4.4238|-4.4238	10.8488|10.8488	0.46759|0.46759	0.0:0.9096:0.0:0.0904|0.0:0.9096:0.0:0.0904	.|.	.|7;7	.|F5GY43;Q9Y467	.|.;SALL2_HUMAN	R|Q	1|7	.|ENSP00000333537:R7Q;ENSP00000320536:R7Q	.|ENSP00000320536:R7Q	G|R	-|-	1|2	0|0	SALL2|SALL2	21074876|21074876	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	3.918000|3.918000	0.56432|0.56432	1.189000|1.189000	0.43028|0.43028	0.655000|0.655000	0.94253|0.94253	GGA|CGG		0.627	SALL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401242.1	NM_005407		4	330	0	0	0	1	0	4	330				
DEFB116	245930	broad.mit.edu	37	20	29891091	29891091	+	Missense_Mutation	SNP	G	G	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr20:29891091G>T	ENST00000400549.1	-	2	232	c.233C>A	c.(232-234)tCt>tAt	p.S78Y		NM_001037731.1	NP_001032820.1	Q30KQ4	DB116_HUMAN	defensin, beta 116	78					defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)				kidney(2)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)	12	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			CACATTTTTAGAACTGGTTAT	0.403																																						ENST00000400549.1																			0				kidney(2)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)	12						c.(232-234)tCt>tAt		defensin, beta 116							324.0	293.0	303.0					20																	29891091		1854	4104	5958	SO:0001583	missense	245930				defense response to bacterium	extracellular region		g.chr20:29891091G>T	DQ012020	CCDS42860.1	20q11.21	2008-07-17			ENSG00000215545	ENSG00000215545		"""Defensins, beta"""	18097	protein-coding gene	gene with protein product	"""defensin, beta 16"""					11854508, 16033865	Standard	NM_001037731		Approved	DEFB-16	uc010ztm.2	Q30KQ4	OTTHUMG00000159285	ENST00000400549.1:c.233C>A	20.37:g.29891091G>T	ENSP00000383396:p.Ser78Tyr		Somatic					p.S78Y	NM_001037731.1	NP_001032820.1	WXS	Illumina GAIIx	Phase_I	Q30KQ4	DB116_HUMAN	Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)		2	232	-	all_hematologic(12;0.158)		78						Missense_Mutation	SNP	ENST00000400549.1	37	c.233C>A	CCDS42860.1	.	.	.	.	.	.	.	.	.	.	G	8.508	0.865913	0.17250	.	.	ENSG00000215545	ENST00000400549	T	0.16457	2.34	3.32	-1.15	0.09709	.	.	.	.	.	T	0.08935	0.0221	N	0.19112	0.55	0.09310	N	1	B	0.17038	0.02	B	0.08055	0.003	T	0.32455	-0.9906	9	0.72032	D	0.01	.	2.7313	0.05228	0.2344:0.0:0.375:0.3906	.	78	Q30KQ4	DB116_HUMAN	Y	78	ENSP00000383396:S78Y	ENSP00000383396:S78Y	S	-	2	0	DEFB116	29354752	0.364000	0.24997	0.000000	0.03702	0.003000	0.03518	1.628000	0.37060	-0.179000	0.10654	-0.890000	0.02929	TCT		0.403	DEFB116-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354403.1	NM_001037731		127	1703	1	0	5.19286e-32	1	6.08925e-32	127	1703				
SLC22A14	9389	broad.mit.edu	37	3	38347690	38347690	+	Missense_Mutation	SNP	C	C	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr3:38347690C>T	ENST00000273173.4	+	1	264	c.173C>T	c.(172-174)gCg>gTg	p.A58V	RNU6-235P_ENST00000362644.1_RNA|SLC22A14_ENST00000448498.1_Missense_Mutation_p.A58V	NM_004803.3	NP_004794.2	Q9Y267	S22AE_HUMAN	solute carrier family 22, member 14	58					organic cation transport (GO:0015695)	integral component of plasma membrane (GO:0005887)	organic cation transmembrane transporter activity (GO:0015101)			central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696)		CTCCTGGATGCGGTGGGGGAG	0.537																																						ENST00000273173.4																			0				central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	21						c.(172-174)gCg>gTg		solute carrier family 22, member 14							171.0	140.0	150.0					3																	38347690		2203	4300	6503	SO:0001583	missense	9389					integral to plasma membrane	organic cation transmembrane transporter activity	g.chr3:38347690C>T	AB011082	CCDS2677.1	3p21.3	2013-05-22	2008-01-11	2003-10-15	ENSG00000144671	ENSG00000144671		"""Solute carriers"""	8495	protein-coding gene	gene with protein product		604048	"""organic cationic transporter-like 4"", ""solute carrier family 22 (organic cation transporter), member 14"""	ORCTL4		10072596	Standard	NM_004803		Approved	OCTL2	uc003cib.2	Q9Y267	OTTHUMG00000131082	ENST00000273173.4:c.173C>T	3.37:g.38347690C>T	ENSP00000273173:p.Ala58Val		Somatic				SLC22A14_ENST00000448498.1_Missense_Mutation_p.A58V	p.A58V	NM_004803.3	NP_004794.2	WXS	Illumina GAIIx	Phase_I	Q9Y267	S22AE_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696)	1	264	+			58					A0AVS9|A1L4H6|B2RCX3|Q6DJT3	Missense_Mutation	SNP	ENST00000273173.4	37	c.173C>T	CCDS2677.1	.	.	.	.	.	.	.	.	.	.	C	9.574	1.121750	0.20877	.	.	ENSG00000144671	ENST00000448498;ENST00000423219;ENST00000273173	T;T	0.36699	1.24;1.24	5.62	-1.57	0.08506	.	0.883950	0.10059	N	0.721161	T	0.22589	0.0545	L	0.28608	0.87	0.09310	N	1	B	0.31859	0.343	B	0.26517	0.07	T	0.13019	-1.0525	10	0.28530	T	0.3	.	10.25	0.43364	0.0:0.5054:0.0:0.4946	.	58	Q9Y267	S22AE_HUMAN	V	58	ENSP00000396283:A58V;ENSP00000273173:A58V	ENSP00000273173:A58V	A	+	2	0	SLC22A14	38322694	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.248000	0.08854	-0.566000	0.06054	-0.793000	0.03317	GCG		0.537	SLC22A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253742.3	NM_004803		5	216	0	0	0	1	0	5	216				
DMBT1	1755	broad.mit.edu	37	10	124380739	124380739	+	Silent	SNP	G	G	A	rs374741257		TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr10:124380739G>A	ENST00000338354.3	+	41	5170	c.5064G>A	c.(5062-5064)tcG>tcA	p.S1688S	DMBT1_ENST00000344338.3_Silent_p.S1678S|DMBT1_ENST00000368955.3_Silent_p.S1678S|DMBT1_ENST00000330163.4_Silent_p.S1060S|DMBT1_ENST00000368956.2_Silent_p.S1060S|DMBT1_ENST00000368909.3_Silent_p.S1688S|DMBT1_ENST00000359586.6_Intron			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	1688	SRCR 13. {ECO:0000255|PROSITE- ProRule:PRU00196}.				defense response to virus (GO:0051607)|epithelial cell differentiation (GO:0030855)|induction of bacterial agglutination (GO:0043152)|innate immune response (GO:0045087)|inner cell mass cell proliferation (GO:0001833)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of epithelial cell differentiation (GO:0030858)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|phagocytic vesicle membrane (GO:0030670)|proteinaceous extracellular matrix (GO:0005578)|zymogen granule membrane (GO:0042589)	calcium-dependent protein binding (GO:0048306)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|zymogen binding (GO:0035375)			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GGGCCATGTCGGCCCCAGGAA	0.612																																					Ovarian(182;93 2026 18125 22222 38972)	ENST00000338354.3																			0				breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72						c.(5062-5064)tcG>tcA		deleted in malignant brain tumors 1		G	,,	1,3943		0,1,1971	156.0	159.0	158.0		3180,5064,5034	-7.6	0.0	10		158	1,8323		0,1,4161	no	coding-synonymous,coding-synonymous,coding-synonymous	DMBT1	NM_004406.2,NM_007329.2,NM_017579.2	,,	0,2,6132	AA,AG,GG		0.012,0.0254,0.0163	,,	1060/1786,1688/2414,1678/2404	124380739	2,12266	1972	4162	6134	SO:0001819	synonymous_variant	1755				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding	g.chr10:124380739G>A		CCDS44490.1, CCDS44491.1, CCDS44492.1	10q25.3-q26.1	2008-08-01			ENSG00000187908	ENSG00000187908			2926	protein-coding gene	gene with protein product		601969				9288095, 17548659	Standard	NM_004406		Approved	GP340, muclin	uc001lgk.1	Q9UGM3	OTTHUMG00000019185	ENST00000338354.3:c.5064G>A	10.37:g.124380739G>A			Somatic				DMBT1_ENST00000368955.3_Silent_p.S1678S|DMBT1_ENST00000368956.2_Silent_p.S1060S|DMBT1_ENST00000344338.3_Silent_p.S1678S|DMBT1_ENST00000368909.3_Silent_p.S1688S|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000330163.4_Silent_p.S1060S	p.S1688S			WXS	Illumina GAIIx	Phase_I	Q9UGM3	DMBT1_HUMAN			41	5170	+		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)	1688			SRCR 13.		A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	Silent	SNP	ENST00000338354.3	37	c.5064G>A																																																																																					0.612	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050792.2	NM_004406		7	333	0	0	0	1	0	7	333				
FAM193A	8603	broad.mit.edu	37	4	2698154	2698154	+	Missense_Mutation	SNP	C	C	A			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr4:2698154C>A	ENST00000324666.5	+	16	2819	c.2468C>A	c.(2467-2469)aCc>aAc	p.T823N	FAM193A_ENST00000505311.1_Missense_Mutation_p.T823N|FAM193A_ENST00000382839.3_Missense_Mutation_p.T823N|FAM193A_ENST00000545951.1_Missense_Mutation_p.T823N|FAM193A_ENST00000502458.1_Missense_Mutation_p.T845N	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN	family with sequence similarity 193, member A	823										NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						TTACGGCTGACCAAGAGGAAA	0.418																																						ENST00000324666.5																			0				NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						c.(2467-2469)aCc>aAc		family with sequence similarity 193, member A							106.0	104.0	105.0					4																	2698154		2203	4300	6503	SO:0001583	missense	8603							g.chr4:2698154C>A	AB000459	CCDS33943.1, CCDS58874.1, CCDS58875.1, CCDS58876.1	4p16.3	2009-09-04	2009-09-04	2009-09-04					16822	protein-coding gene	gene with protein product			"""chromosome 4 open reading frame 8"""	C4orf8		9734812	Standard	NR_046335		Approved	RES4-22	uc010ick.3	P78312		ENST00000324666.5:c.2468C>A	4.37:g.2698154C>A	ENSP00000324587:p.Thr823Asn		Somatic				FAM193A_ENST00000505311.1_Missense_Mutation_p.T823N|FAM193A_ENST00000545951.1_Missense_Mutation_p.T823N|FAM193A_ENST00000502458.1_Missense_Mutation_p.T845N|FAM193A_ENST00000382839.3_Missense_Mutation_p.T823N	p.T823N	NM_001256666.1	NP_001243595.1	WXS	Illumina GAIIx	Phase_I	P78312	F193A_HUMAN			16	2819	+			823					B7ZM85|B9EGR0|E9PFA1|O43607|P78311|P78313|Q9UEG8	Missense_Mutation	SNP	ENST00000324666.5	37	c.2468C>A	CCDS58875.1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.862603	0.91511	.	.	ENSG00000125386	ENST00000382839;ENST00000324666;ENST00000545951;ENST00000502458;ENST00000513350	T;T;T;T;T	0.37411	1.21;1.62;1.2;1.21;1.21	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.60495	0.2273	M	0.71036	2.16	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.999;0.999;0.997;0.999	T	0.59451	-0.7452	10	0.41790	T	0.15	-30.4113	17.8501	0.88744	0.0:1.0:0.0:0.0	.	823;845;823;845;823	B9EGR0;E9PFA1;P78312;B7ZM85;P78312-2	.;.;F193A_HUMAN;.;.	N	823;823;823;845;677	ENSP00000372290:T823N;ENSP00000324587:T823N;ENSP00000443617:T823N;ENSP00000427505:T845N;ENSP00000427260:T677N	ENSP00000324587:T823N	T	+	2	0	FAM193A	2667952	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.646000	0.83445	2.464000	0.83262	0.603000	0.83216	ACC		0.418	FAM193A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000360903.1	NM_003704		4	145	1	0	0.00909568	1	0.00948068	4	145				
ACSL3	2181	broad.mit.edu	37	2	223782762	223782762	+	Splice_Site	SNP	A	A	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr2:223782762A>T	ENST00000357430.3	+	6	1087		c.e6-1		ACSL3_ENST00000392066.3_Splice_Site|AC097461.4_ENST00000446709.1_RNA	NM_004457.3	NP_004448.2	O95573	ACSL3_HUMAN	acyl-CoA synthetase long-chain family member 3						brain development (GO:0007420)|fatty acid biosynthetic process (GO:0006633)|long-chain fatty acid import (GO:0044539)|positive regulation of Golgi to plasma membrane protein transport (GO:0042998)|positive regulation of phosphatidylcholine biosynthetic process (GO:2001247)|positive regulation of secretion (GO:0051047)|response to nutrient (GO:0007584)|response to organic cyclic compound (GO:0014070)|very-low-density lipoprotein particle assembly (GO:0034379)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)|skin(2)	22		Renal(207;0.0183)		Epithelial(121;1.28e-10)|all cancers(144;8.06e-08)|Lung(261;0.00834)|LUSC - Lung squamous cell carcinoma(224;0.00864)	Icosapent(DB00159)	TTTTCCTTTTAGTTGTTACAT	0.358			T	ETV1	prostate																																	ENST00000357430.3				Dom	yes		2	2q36	2181	T	acyl-CoA synthetase long-chain family member 3			E	ETV1		prostate		0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)|skin(2)	22						c.e6-1		acyl-CoA synthetase long-chain family member 3	Icosapent(DB00159)						111.0	107.0	109.0					2																	223782762		2203	4300	6503	SO:0001630	splice_region_variant	2181				long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|fatty-acyl-CoA synthase activity|long-chain fatty acid-CoA ligase activity|protein binding	g.chr2:223782762A>T	D89053	CCDS2455.1	2q34-q35	2008-02-05	2004-02-19	2004-02-20	ENSG00000123983	ENSG00000123983		"""Acyl-CoA synthetase family"""	3570	protein-coding gene	gene with protein product		602371	"""fatty-acid-Coenzyme A ligase, long-chain 3"""	FACL3			Standard	NM_004457		Approved	ACS3, PRO2194	uc002vnj.3	O95573	OTTHUMG00000133160	ENST00000357430.3:c.557-1A>T	2.37:g.223782762A>T			Somatic				AC097461.4_ENST00000446709.1_RNA|ACSL3_ENST00000392066.3_Splice_Site		NM_004457.3	NP_004448.2	WXS	Illumina GAIIx	Phase_I	O95573	ACSL3_HUMAN		Epithelial(121;1.28e-10)|all cancers(144;8.06e-08)|Lung(261;0.00834)|LUSC - Lung squamous cell carcinoma(224;0.00864)	6	1087	+		Renal(207;0.0183)						Q60I92|Q8IUM9	Splice_Site	SNP	ENST00000357430.3	37		CCDS2455.1	.	.	.	.	.	.	.	.	.	.	A	19.75	3.884822	0.72410	.	.	ENSG00000123983	ENST00000357430;ENST00000392066;ENST00000540115	.	.	.	4.98	4.98	0.66077	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.8282	0.70130	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ACSL3	223491006	1.000000	0.71417	0.998000	0.56505	0.929000	0.56500	8.757000	0.91657	2.094000	0.63399	0.533000	0.62120	.		0.358	ACSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256862.2	NM_004457	Intron	5	116	0	0	0	1	0	5	116				
DEPDC7	91614	broad.mit.edu	37	11	33050304	33050304	+	Missense_Mutation	SNP	G	G	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr11:33050304G>T	ENST00000241051.3	+	4	840	c.748G>T	c.(748-750)Gat>Tat	p.D250Y	DEPDC7_ENST00000311388.3_Missense_Mutation_p.D241Y	NM_001077242.1	NP_001070710.1	Q96QD5	DEPD7_HUMAN	DEP domain containing 7	250					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)				endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	17						TAACTATCTGGATCGAGGGAT	0.403																																						ENST00000311388.3																			0				endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	17						c.(721-723)Gat>Tat		DEP domain containing 7							119.0	113.0	115.0					11																	33050304		1908	4132	6040	SO:0001583	missense	91614				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr11:33050304G>T		CCDS41632.1, CCDS41633.1	11p13	2006-03-24			ENSG00000121690	ENSG00000121690			29899	protein-coding gene	gene with protein product		612294				10568747	Standard	NM_001077242		Approved		uc001mub.3	Q96QD5	OTTHUMG00000166242	ENST00000241051.3:c.748G>T	11.37:g.33050304G>T	ENSP00000241051:p.Asp250Tyr		Somatic				DEPDC7_ENST00000241051.3_Missense_Mutation_p.D250Y	p.D241Y	NM_139160.2	NP_631899.2	WXS	Illumina GAIIx	Phase_I	Q96QD5	DEPD7_HUMAN			4	1097	+			250					G5E941|Q8N602|Q8NCU9|Q9UGK5	Missense_Mutation	SNP	ENST00000241051.3	37	c.721G>T	CCDS41632.1	.	.	.	.	.	.	.	.	.	.	G	19.83	3.899934	0.72754	.	.	ENSG00000121690	ENST00000241051;ENST00000311388	T;T	0.16743	2.32;2.34	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.47746	0.1462	M	0.81341	2.54	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	T	0.20306	-1.0279	10	0.38643	T	0.18	-22.4418	20.6593	0.99626	0.0:0.0:1.0:0.0	.	241;250	G5E941;Q96QD5	.;DEPD7_HUMAN	Y	250;241	ENSP00000241051:D250Y;ENSP00000308971:D241Y	ENSP00000241051:D250Y	D	+	1	0	DEPDC7	33006880	1.000000	0.71417	1.000000	0.80357	0.526000	0.34562	8.983000	0.93477	2.885000	0.99019	0.655000	0.94253	GAT		0.403	DEPDC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388655.1	NM_139160		11	143	1	0	7.03913e-09	1	7.87902e-09	11	143				
PCLO	27445	broad.mit.edu	37	7	82545232	82545232	+	Missense_Mutation	SNP	T	T	G			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr7:82545232T>G	ENST00000333891.9	-	7	12407	c.12070A>C	c.(12070-12072)Agt>Cgt	p.S4024R	PCLO_ENST00000423517.2_Missense_Mutation_p.S4024R|PCLO_ENST00000437081.1_Missense_Mutation_p.S744R	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GATATTGGACTGCTTGCCATG	0.383																																						ENST00000423517.2																			0				breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						c.(12070-12072)Agt>Cgt		piccolo presynaptic cytomatrix protein							203.0	190.0	195.0					7																	82545232		1935	4142	6077	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82545232T>G	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.12070A>C	7.37:g.82545232T>G	ENSP00000334319:p.Ser4024Arg		Somatic				PCLO_ENST00000437081.1_Missense_Mutation_p.S744R|PCLO_ENST00000333891.8_Missense_Mutation_p.S4024R	p.S4024R	NM_014510.2	NP_055325.2	WXS	Illumina GAIIx	Phase_I	Q9Y6V0	PCLO_HUMAN			7	12407	-			3955						Missense_Mutation	SNP	ENST00000333891.9	37	c.12070A>C	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	T	17.84	3.488103	0.64074	.	.	ENSG00000186472	ENST00000333891;ENST00000423517;ENST00000437081	T;T	0.36340	1.26;1.27	5.85	5.85	0.93711	.	.	.	.	.	T	0.61862	0.2381	M	0.73962	2.25	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.91635	0.996;0.999;0.999	T	0.65813	-0.6077	9	0.87932	D	0	.	16.2271	0.82306	0.0:0.0:0.0:1.0	.	3955;4024;4024	Q9Y6V0;Q9Y6V0-5;Q9Y6V0-6	PCLO_HUMAN;.;.	R	4024;4024;744	ENSP00000334319:S4024R;ENSP00000388393:S4024R	ENSP00000334319:S4024R	S	-	1	0	PCLO	82383168	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.040000	0.89188	2.234000	0.73211	0.460000	0.39030	AGT		0.383	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		5	471	0	0	0	1	0	5	471				
ATP6V0A1	535	broad.mit.edu	37	17	40639318	40639318	+	Missense_Mutation	SNP	T	T	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr17:40639318T>C	ENST00000343619.4	+	10	1079	c.956T>C	c.(955-957)tTg>tCg	p.L319S	ATP6V0A1_ENST00000537728.1_Missense_Mutation_p.L276S|ATP6V0A1_ENST00000393829.2_Missense_Mutation_p.L319S|ATP6V0A1_ENST00000585525.1_Missense_Mutation_p.L276S|ATP6V0A1_ENST00000264649.6_Missense_Mutation_p.L326S|ATP6V0A1_ENST00000546249.1_Missense_Mutation_p.L319S|ATP6V0A1_ENST00000544137.1_Intron	NM_001130021.1	NP_001123493.1	Q93050	VPP1_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a1	319					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220)	ATPase binding (GO:0051117)|hydrogen ion transmembrane transporter activity (GO:0015078)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|urinary_tract(3)	26		all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254)		BRCA - Breast invasive adenocarcinoma(366;0.137)		CAGAAATGCTTGATTGCAGAG	0.517																																						ENST00000343619.4																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|urinary_tract(3)	26						c.(955-957)tTg>tCg		ATPase, H+ transporting, lysosomal V0 subunit a1							155.0	133.0	141.0					17																	40639318		2203	4300	6503	SO:0001583	missense	535				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytoplasmic vesicle membrane|endosome membrane|Golgi apparatus|integral to membrane|melanosome|nucleus|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity	g.chr17:40639318T>C	U73006	CCDS11426.1, CCDS45683.1, CCDS45684.1	17q21	2010-04-21	2006-01-20	2002-05-10	ENSG00000033627	ENSG00000033627		"""ATPases / V-type"""	865	protein-coding gene	gene with protein product		192130	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump) non-catalytic accessory protein 1A (110/116kD)"", ""ATPase, H+ transporting, lysosomal V0 subunit a isoform 1"", ""ATPase, H+ transporting, lysosomal V0 subunit A1"""	VPP1, ATP6N1, ATP6N1A		7774924	Standard	NM_001130020		Approved	a1, Vph1, Stv1	uc002hzs.3	Q93050		ENST00000343619.4:c.956T>C	17.37:g.40639318T>C	ENSP00000342951:p.Leu319Ser		Somatic				ATP6V0A1_ENST00000537728.1_Missense_Mutation_p.L276S|ATP6V0A1_ENST00000264649.6_Missense_Mutation_p.L326S|ATP6V0A1_ENST00000546249.1_Missense_Mutation_p.L319S|ATP6V0A1_ENST00000544137.1_Intron|ATP6V0A1_ENST00000393829.2_Missense_Mutation_p.L319S|ATP6V0A1_ENST00000585525.1_Missense_Mutation_p.L276S	p.L319S	NM_001130021.1	NP_001123493.1	WXS	Illumina GAIIx	Phase_I	Q93050	VPP1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.137)	10	1079	+		all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254)	319					B7Z3B7|Q8N5G7|Q9NSX0	Missense_Mutation	SNP	ENST00000343619.4	37	c.956T>C	CCDS45684.1	.	.	.	.	.	.	.	.	.	.	T	20.3	3.967301	0.74131	.	.	ENSG00000033627	ENST00000343619;ENST00000546249;ENST00000393829;ENST00000264649;ENST00000537728	D;D;D;D;D	0.90504	-2.68;-2.68;-2.68;-2.68;-2.68	5.54	5.54	0.83059	.	0.072497	0.56097	N	0.000028	D	0.94798	0.8320	M	0.85099	2.735	0.80722	D	1	P;B;P;B;B	0.51537	0.946;0.379;0.893;0.147;0.046	P;P;P;B;B	0.57548	0.687;0.469;0.823;0.153;0.073	D	0.95502	0.8578	10	0.87932	D	0	-8.6862	15.6544	0.77121	0.0:0.0:0.0:1.0	.	276;276;326;319;319	B7Z641;B7Z2A9;B7Z3B7;Q93050;Q93050-1	.;.;.;VPP1_HUMAN;.	S	319;319;319;326;276	ENSP00000342951:L319S;ENSP00000444676:L319S;ENSP00000377415:L319S;ENSP00000264649:L326S;ENSP00000443991:L276S	ENSP00000264649:L326S	L	+	2	0	ATP6V0A1	37892844	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	8.027000	0.88791	2.094000	0.63399	0.533000	0.62120	TTG		0.517	ATP6V0A1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450364.1	NM_001130020		12	257	0	0	0	1	0	12	257				
SVIL	6840	broad.mit.edu	37	10	29769544	29769544	+	Missense_Mutation	SNP	G	G	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr10:29769544G>T	ENST00000355867.4	-	29	6051	c.5299C>A	c.(5299-5301)Ctc>Atc	p.L1767I	PTCHD3P1_ENST00000446807.1_RNA|SVIL_ENST00000460007.1_5'UTR|SVIL_ENST00000375400.3_Missense_Mutation_p.L1341I|SVIL_ENST00000375398.2_Missense_Mutation_p.L1767I|PTCHD3P1_ENST00000414457.1_RNA|PTCHD3P1_ENST00000423223.1_RNA|PTCHD3P1_ENST00000413405.1_RNA|SVIL_ENST00000535393.1_Missense_Mutation_p.L681I|SVIL_ENST00000538146.1_Missense_Mutation_p.L559I	NM_021738.2	NP_068506.2	O95425	SVIL_HUMAN	supervillin	1767					cytoskeleton organization (GO:0007010)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|costamere (GO:0043034)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)	p.L1767I(2)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				TGTTTGGGGAGCCTGCTATAG	0.547																																						ENST00000375398.2																			2	Substitution - Missense(2)	p.L1767I(2)	cervix(1)|prostate(1)	breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112						c.(5299-5301)Ctc>Atc		supervillin							105.0	95.0	98.0					10																	29769544		2203	4300	6503	SO:0001583	missense	6840				cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding	g.chr10:29769544G>T	AF051851	CCDS7163.1, CCDS7164.1	10p11.2	2008-07-29			ENSG00000197321	ENSG00000197321			11480	protein-coding gene	gene with protein product	"""archvillin"""	604126				9382871	Standard	NM_003174		Approved		uc001iut.1	O95425	OTTHUMG00000017882	ENST00000355867.4:c.5299C>A	10.37:g.29769544G>T	ENSP00000348128:p.Leu1767Ile		Somatic				SVIL_ENST00000538146.1_Missense_Mutation_p.L559I|PTCHD3P1_ENST00000446807.1_RNA|SVIL_ENST00000535393.1_Missense_Mutation_p.L681I|PTCHD3P1_ENST00000423223.1_RNA|SVIL_ENST00000355867.4_Missense_Mutation_p.L1767I|PTCHD3P1_ENST00000414457.1_RNA|SVIL_ENST00000460007.1_5'UTR|PTCHD3P1_ENST00000413405.1_RNA|SVIL_ENST00000375400.3_Missense_Mutation_p.L1341I	p.L1767I			WXS	Illumina GAIIx	Phase_I	O95425	SVIL_HUMAN			31	5748	-		Breast(68;0.103)	1767					D3DRW9|M1J557|O60611|O60612|Q5VZK5|Q5VZK6|Q9H1R7	Missense_Mutation	SNP	ENST00000355867.4	37	c.5299C>A	CCDS7164.1	.	.	.	.	.	.	.	.	.	.	G	19.77	3.889685	0.72524	.	.	ENSG00000197321	ENST00000375400;ENST00000375398;ENST00000355867;ENST00000535393;ENST00000535994;ENST00000538146	T;T;T;T;T	0.17528	2.27;2.27;2.27;2.27;2.45	4.53	4.53	0.55603	.	0.000000	0.85682	D	0.000000	T	0.23727	0.0574	L	0.39467	1.215	0.46298	D	0.998979	P;P;B;B	0.44627	0.839;0.603;0.189;0.402	P;P;B;B	0.51266	0.664;0.55;0.413;0.168	T	0.00735	-1.1588	10	0.54805	T	0.06	-18.154	12.9693	0.58503	0.0806:0.0:0.9194:0.0	.	681;559;1341;1767	F5H2Q5;F5GXV0;O95425-2;O95425	.;.;.;SVIL_HUMAN	I	1341;1767;1767;681;721;559	ENSP00000364549:L1341I;ENSP00000364547:L1767I;ENSP00000348128:L1767I;ENSP00000445472:L681I;ENSP00000440343:L559I	ENSP00000348128:L1767I	L	-	1	0	SVIL	29809550	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	5.132000	0.64758	2.337000	0.79520	0.561000	0.74099	CTC		0.547	SVIL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047395.1			4	56	1	0	0.150653	1	0.152983	4	56				
LDHAL6A	160287	broad.mit.edu	37	11	18497053	18497053	+	Silent	SNP	T	T	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr11:18497053T>C	ENST00000280706.2	+	4	1256	c.459T>C	c.(457-459)ttT>ttC	p.F153F	LDHAL6A_ENST00000396213.3_Silent_p.F153F|TSG101_ENST00000536719.1_Intron	NM_144972.4	NP_659409.2	Q6ZMR3	LDH6A_HUMAN	lactate dehydrogenase A-like 6A	153					cellular carbohydrate metabolic process (GO:0044262)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	L-lactate dehydrogenase activity (GO:0004459)			large_intestine(3)|lung(9)|urinary_tract(1)	13						TGAGTGGATTTCCCAAAAACC	0.383																																						ENST00000280706.2																			0				large_intestine(3)|lung(9)|urinary_tract(1)	13						c.(457-459)ttT>ttC		lactate dehydrogenase A-like 6A	NADH(DB00157)						196.0	189.0	192.0					11																	18497053		2199	4293	6492	SO:0001819	synonymous_variant	160287				glycolysis	cytoplasm	binding|L-lactate dehydrogenase activity	g.chr11:18497053T>C	AK131523	CCDS7841.1	11p15.1	2011-01-27			ENSG00000166800	ENSG00000166800			28335	protein-coding gene	gene with protein product						12477932	Standard	NM_001144071		Approved	MGC23940, LDH6A	uc001mop.1	Q6ZMR3	OTTHUMG00000167724	ENST00000280706.2:c.459T>C	11.37:g.18497053T>C			Somatic				TSG101_ENST00000536719.1_Intron|LDHAL6A_ENST00000396213.3_Silent_p.F153F	p.F153F	NM_144972.4	NP_659409.2	WXS	Illumina GAIIx	Phase_I	Q6ZMR3	LDH6A_HUMAN			4	1256	+			153					D3DQY5	Silent	SNP	ENST00000280706.2	37	c.459T>C	CCDS7841.1																																																																																				0.383	LDHAL6A-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395904.1	NM_144972		4	197	0	0	0	1	0	4	197				
SCN11A	11280	broad.mit.edu	37	3	38938500	38938500	+	Missense_Mutation	SNP	G	G	A			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr3:38938500G>A	ENST00000302328.3	-	14	2437	c.2239C>T	c.(2239-2241)Cgg>Tgg	p.R747W	SCN11A_ENST00000444237.2_Missense_Mutation_p.R747W|SCN11A_ENST00000450244.1_Missense_Mutation_p.R747W|SCN11A_ENST00000456224.3_Missense_Mutation_p.R747W	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	747					cell death (GO:0008219)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of sensory perception of pain (GO:0051930)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.R747W(1)		NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TGCCAGTGCCGTAAACATGAG	0.488																																						ENST00000450244.1																			1	Substitution - Missense(1)	p.R747W(1)	prostate(1)	NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119						c.(2239-2241)Cgg>Tgg		sodium channel, voltage-gated, type XI, alpha subunit	Cocaine(DB00907)						121.0	108.0	112.0					3																	38938500		2203	4300	6503	SO:0001583	missense	11280				response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr3:38938500G>A	AF126739	CCDS33737.1	3p22.2	2012-02-26	2007-01-23		ENSG00000168356	ENSG00000168356		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10583	protein-coding gene	gene with protein product		604385	"""sodium channel, voltage-gated, type XI, alpha polypeptide"", ""sodium channel, voltage-gated, type XII, alpha"""	SCN12A		10444332, 16382098	Standard	NM_014139		Approved	Nav1.9, NaN, SNS-2	uc021wvy.1	Q9UI33	OTTHUMG00000048246	ENST00000302328.3:c.2239C>T	3.37:g.38938500G>A	ENSP00000307599:p.Arg747Trp		Somatic				SCN11A_ENST00000444237.2_Missense_Mutation_p.R747W|SCN11A_ENST00000456224.3_Missense_Mutation_p.R747W|SCN11A_ENST00000302328.3_Missense_Mutation_p.R747W	p.R747W			WXS	Illumina GAIIx	Phase_I	Q9UI33	SCNBA_HUMAN		Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	14	2437	-			747					A6NN05|C9JD48|C9JR31|Q68K15|Q8NDX3|Q9UHE0|Q9UHM0	Missense_Mutation	SNP	ENST00000302328.3	37	c.2239C>T	CCDS33737.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.004380	0.74932	.	.	ENSG00000168356	ENST00000302328;ENST00000450244;ENST00000456224;ENST00000444237	D;D;D;D	0.98617	-5.03;-5.03;-5.03;-5.03	5.95	3.99	0.46301	Ion transport (1);	0.000000	0.30630	N	0.009212	D	0.98704	0.9565	M	0.78456	2.415	0.20489	N	0.999891	D	0.89917	1.0	D	0.76071	0.987	D	0.95189	0.8306	10	0.87932	D	0	.	7.0315	0.24970	0.0952:0.0:0.5612:0.3436	.	747	Q9UI33	SCNBA_HUMAN	W	747	ENSP00000307599:R747W;ENSP00000400945:R747W;ENSP00000416757:R747W;ENSP00000408028:R747W	ENSP00000307599:R747W	R	-	1	2	SCN11A	38913504	0.929000	0.31497	0.072000	0.20136	0.169000	0.22640	4.058000	0.57463	1.352000	0.45808	0.650000	0.86243	CGG		0.488	SCN11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109746.4	NM_014139		3	102	0	0	0	1	0	3	102				
EIF4G1	1981	broad.mit.edu	37	3	184039116	184039116	+	Silent	SNP	T	T	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr3:184039116T>C	ENST00000346169.2	+	10	1015	c.744T>C	c.(742-744)ccT>ccC	p.P248P	EIF4G1_ENST00000427845.1_Silent_p.P161P|EIF4G1_ENST00000350481.5_Silent_p.P84P|EIF4G1_ENST00000414031.1_Silent_p.P208P|EIF4G1_ENST00000424196.1_Silent_p.P255P|EIF4G1_ENST00000435046.2_Silent_p.P52P|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000441154.1_Silent_p.P84P|EIF4G1_ENST00000342981.4_Silent_p.P248P|EIF4G1_ENST00000352767.3_Silent_p.P255P|EIF4G1_ENST00000434061.2_Silent_p.P52P|EIF4G1_ENST00000392537.2_Silent_p.P161P|EIF4G1_ENST00000319274.6_Silent_p.P248P|EIF4G1_ENST00000411531.1_Silent_p.P208P|EIF4G1_ENST00000382330.3_Silent_p.P255P	NM_198241.2	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	248					cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|lung development (GO:0030324)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|response to ethanol (GO:0045471)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CAGGGCTGCCTGGCCCAGAGC	0.567																																						ENST00000342981.4																			0				central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75						c.(742-744)ccT>ccC		eukaryotic translation initiation factor 4 gamma, 1							90.0	89.0	89.0					3																	184039116		2203	4300	6503	SO:0001819	synonymous_variant	1981				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity	g.chr3:184039116T>C	D12686	CCDS3259.1, CCDS3260.1, CCDS3261.1, CCDS46970.1, CCDS46970.2, CCDS54687.1, CCDS54688.1	3q27.1	2013-09-19			ENSG00000114867	ENSG00000114867		"""Parkinson disease"""	3296	protein-coding gene	gene with protein product		600495		EIF4G, EIF4F		1429670, 9372926, 21907011	Standard	NM_182917		Approved	p220, PARK18	uc010hxy.3	Q04637	OTTHUMG00000156784	ENST00000346169.2:c.744T>C	3.37:g.184039116T>C			Somatic				EIF4G1_ENST00000411531.1_Silent_p.P208P|EIF4G1_ENST00000352767.3_Silent_p.P255P|EIF4G1_ENST00000434061.2_Silent_p.P52P|EIF4G1_ENST00000441154.1_Silent_p.P84P|EIF4G1_ENST00000350481.5_Silent_p.P84P|EIF4G1_ENST00000392537.2_Silent_p.P161P|EIF4G1_ENST00000319274.6_Silent_p.P248P|EIF4G1_ENST00000427845.1_Silent_p.P161P|EIF4G1_ENST00000424196.1_Silent_p.P255P|EIF4G1_ENST00000414031.1_Silent_p.P208P|EIF4G1_ENST00000382330.3_Silent_p.P255P|EIF4G1_ENST00000346169.2_Silent_p.P248P|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000435046.2_Silent_p.P52P	p.P248P	NM_182917.4	NP_886553.3	WXS	Illumina GAIIx	Phase_I	Q04637	IF4G1_HUMAN	Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		9	1158	+	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		248					D3DNT2|D3DNT4|D3DNT5|E9PFM1|G5E9S1|O43177|O95066|Q5HYG0|Q6ZN21|Q8N102	Silent	SNP	ENST00000346169.2	37	c.744T>C	CCDS3259.1																																																																																				0.567	EIF4G1-007	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000345733.1	NM_182917		13	195	0	0	0	1	0	13	195				
CSMD1	64478	broad.mit.edu	37	8	2976082	2976082	+	Missense_Mutation	SNP	G	G	A			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr8:2976082G>A	ENST00000520002.1	-	43	6827	c.6272C>T	c.(6271-6273)cCa>cTa	p.P2091L	CSMD1_ENST00000400186.3_Missense_Mutation_p.P2091L|CSMD1_ENST00000537824.1_Missense_Mutation_p.P2090L|CSMD1_ENST00000602557.1_Missense_Mutation_p.P2091L|CSMD1_ENST00000602723.1_Missense_Mutation_p.P2091L|CSMD1_ENST00000542608.1_Missense_Mutation_p.P2090L			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2091	Sushi 12. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		AAATGGGGGTGGATCTGGACA	0.408																																						ENST00000520002.1																			0				breast(20)|large_intestine(5)	25						c.(6271-6273)cCa>cTa		CUB and Sushi multiple domains 1							122.0	117.0	119.0					8																	2976082		1950	4133	6083	SO:0001583	missense	64478					integral to membrane		g.chr8:2976082G>A			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.6272C>T	8.37:g.2976082G>A	ENSP00000430733:p.Pro2091Leu		Somatic				CSMD1_ENST00000602723.1_Missense_Mutation_p.P2091L|CSMD1_ENST00000400186.3_Missense_Mutation_p.P2091L|CSMD1_ENST00000602557.1_Missense_Mutation_p.P2091L|CSMD1_ENST00000542608.1_Missense_Mutation_p.P2090L|CSMD1_ENST00000537824.1_Missense_Mutation_p.P2090L	p.P2091L			WXS	Illumina GAIIx	Phase_I	Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	43	6827	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	2091			Sushi 12.		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37	c.6272C>T		.	.	.	.	.	.	.	.	.	.	G	28.1	4.890375	0.91889	.	.	ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608	D;D;D;D	0.84223	-1.82;-1.82;-1.82;-1.82	5.03	5.03	0.67393	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.85682	D	0.000000	D	0.90841	0.7123	L	0.56340	1.77	0.80722	D	1	D;D;D	0.76494	0.993;0.999;0.999	P;D;D	0.97110	0.901;1.0;0.992	D	0.91165	0.4964	10	0.56958	D	0.05	.	18.734	0.91748	0.0:0.0:1.0:0.0	.	2091;2091;2090	E5RIG2;Q96PZ7;F5H2I8	.;CSMD1_HUMAN;.	L	2091;2091;1952;2090;2090	ENSP00000383047:P2091L;ENSP00000430733:P2091L;ENSP00000441462:P2090L;ENSP00000446243:P2090L	ENSP00000320445:P1952L	P	-	2	0	CSMD1	2963489	1.000000	0.71417	0.399000	0.26333	0.974000	0.67602	9.525000	0.98039	2.481000	0.83766	0.563000	0.77884	CCA		0.408	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		3	84	0	0	0	1	0	3	84				
QPCT	25797	broad.mit.edu	37	2	37586796	37586796	+	Missense_Mutation	SNP	C	C	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr2:37586796C>T	ENST00000338415.3	+	3	499	c.341C>T	c.(340-342)cCc>cTc	p.P114L	QPCT_ENST00000537448.1_Missense_Mutation_p.P65L	NM_012413.3	NP_036545.1	Q16769	QPCT_HUMAN	glutaminyl-peptide cyclotransferase	114					cellular protein modification process (GO:0006464)|peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase (GO:0017186)	extracellular vesicular exosome (GO:0070062)	glutaminyl-peptide cyclotransferase activity (GO:0016603)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|stomach(2)	17		Ovarian(717;0.051)|all_hematologic(82;0.21)				AGTCAGACACCCTATGGGTAC	0.443																																						ENST00000338415.3																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|stomach(2)	17						c.(340-342)cCc>cTc		glutaminyl-peptide cyclotransferase							95.0	79.0	84.0					2																	37586796		2203	4300	6503	SO:0001583	missense	25797				peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase|proteolysis	extracellular region	acyltransferase activity|glutaminyl-peptide cyclotransferase activity|peptidase activity|zinc ion binding	g.chr2:37586796C>T	X71125	CCDS1790.1	2p22	2008-07-31	2008-07-31		ENSG00000115828	ENSG00000115828	2.3.2.5		9753	protein-coding gene	gene with protein product	"""glutaminyl cyclase"""	607065				7999256	Standard	NM_012413		Approved	QC, GCT	uc002rqg.3	Q16769	OTTHUMG00000100963	ENST00000338415.3:c.341C>T	2.37:g.37586796C>T	ENSP00000344829:p.Pro114Leu		Somatic				QPCT_ENST00000537448.1_Missense_Mutation_p.P65L	p.P114L	NM_012413.3	NP_036545.1	WXS	Illumina GAIIx	Phase_I	Q16769	QPCT_HUMAN			3	499	+		Ovarian(717;0.051)|all_hematologic(82;0.21)	114					Q16770|Q3KRG6|Q53TR4	Missense_Mutation	SNP	ENST00000338415.3	37	c.341C>T	CCDS1790.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.640023	0.87760	.	.	ENSG00000115828	ENST00000338415;ENST00000404976;ENST00000537448	T;T;T	0.32753	1.44;1.44;1.44	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.66528	0.2798	M	0.91196	3.185	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.74509	-0.3642	10	0.87932	D	0	-3.9293	19.4608	0.94916	0.0:1.0:0.0:0.0	.	65;114	Q16769-2;Q16769	.;QPCT_HUMAN	L	114;65;65	ENSP00000344829:P114L;ENSP00000385391:P65L;ENSP00000441606:P65L	ENSP00000344829:P114L	P	+	2	0	QPCT	37440300	1.000000	0.71417	0.972000	0.41901	0.710000	0.40934	7.668000	0.83897	2.587000	0.87381	0.655000	0.94253	CCC		0.443	QPCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218572.2			66	43	0	0	0	1	0	66	43				
HRH2	3274	broad.mit.edu	37	5	175110623	175110623	+	Silent	SNP	G	G	A			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr5:175110623G>A	ENST00000231683.2	+	1	2160	c.387G>A	c.(385-387)ctG>ctA	p.L129L	HRH2_ENST00000377291.2_Silent_p.L129L	NM_022304.2	NP_071640.1	P25021	HRH2_HUMAN	histamine receptor H2	129					digestive tract development (GO:0048565)|epithelial cell morphogenesis (GO:0003382)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|gastrin-induced gastric acid secretion (GO:0001698)|gland development (GO:0048732)|histamine-induced gastric acid secretion (GO:0001697)|immune response (GO:0006955)|memory (GO:0007613)|positive regulation of vasoconstriction (GO:0045907)|regulation of synaptic plasticity (GO:0048167)|visual learning (GO:0008542)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	histamine receptor activity (GO:0004969)	p.L129L(1)		breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(10)|ovary(1)	22	all_cancers(89;0.00805)|Renal(175;0.000269)|Lung NSC(126;0.00419)|all_lung(126;0.00711)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Colorectal(1;0.0154)|COAD - Colon adenocarcinoma(1;0.149)	Amitriptyline(DB00321)|Asenapine(DB06216)|Betazole(DB00272)|Cimetidine(DB00501)|Doxepin(DB01142)|Epinastine(DB00751)|Famotidine(DB00927)|Histamine Phosphate(DB00667)|Loxapine(DB00408)|Methantheline(DB00940)|Nizatidine(DB00585)|Olanzapine(DB00334)|Ranitidine(DB00863)|Roxatidine acetate(DB08806)|Tolazoline(DB00797)	ACCCTGTGCTGGTCACCCCAG	0.557																																						ENST00000231683.2																			1	Substitution - coding silent(1)	p.L129L(1)	lung(1)	breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(10)|ovary(1)	22						c.(385-387)ctG>ctA		histamine receptor H2	Betazole(DB00272)|Cimetidine(DB00501)|Doxepin(DB01142)|Epinastine(DB00751)|Famotidine(DB00927)|Histamine Phosphate(DB00667)|Nizatidine(DB00585)|Ranitidine(DB00863)						137.0	115.0	122.0					5																	175110623		2203	4300	6503	SO:0001819	synonymous_variant	3274				G-protein signaling, coupled to cyclic nucleotide second messenger|immune response	integral to plasma membrane	histamine receptor activity	g.chr5:175110623G>A		CCDS4395.1, CCDS47344.1	5q35	2012-08-08			ENSG00000113749	ENSG00000113749		"""GPCR / Class A : Histamine receptors"""	5183	protein-coding gene	gene with protein product		142703				1714721	Standard	NM_022304		Approved		uc003mdc.4	P25021	OTTHUMG00000130660	ENST00000231683.2:c.387G>A	5.37:g.175110623G>A			Somatic				HRH2_ENST00000377291.2_Silent_p.L129L	p.L129L	NM_022304.2	NP_071640.1	WXS	Illumina GAIIx	Phase_I	P25021	HRH2_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Colorectal(1;0.0154)|COAD - Colon adenocarcinoma(1;0.149)	1	2160	+	all_cancers(89;0.00805)|Renal(175;0.000269)|Lung NSC(126;0.00419)|all_lung(126;0.00711)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	129					B5BUP7|Q14464|Q7Z5R9	Silent	SNP	ENST00000231683.2	37	c.387G>A	CCDS4395.1																																																																																				0.557	HRH2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253151.1			4	320	0	0	0	1	0	4	320				
MYO16	23026	broad.mit.edu	37	13	109379873	109379873	+	Missense_Mutation	SNP	C	C	T	rs201650171		TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr13:109379873C>T	ENST00000357550.2	+	3	424	c.383C>T	c.(382-384)aCg>aTg	p.T128M	MYO16_ENST00000356711.2_Missense_Mutation_p.T128M|MYO16_ENST00000251041.5_Missense_Mutation_p.T128M	NM_001198950.1	NP_001185879.1			myosin XVI									p.T128M(1)		NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			GACTTCTGGACGCCCATGCAC	0.418													.|||	1	0.000199681	0.0	0.0	5008	,	,		19002	0.001		0.0	False		,,,				2504	0.0					ENST00000356711.2																			1	Substitution - Missense(1)	p.T128M(1)	endometrium(1)	NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121						c.(382-384)aCg>aTg		myosin XVI							210.0	185.0	193.0					13																	109379873		2203	4300	6503	SO:0001583	missense	23026				cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity	g.chr13:109379873C>T		CCDS32008.1, CCDS73598.1	13q33.3	2014-06-12			ENSG00000041515	ENSG00000041515		"""Myosins / Myosin superfamily : Class XVI"", ""Ankyrin repeat domain containing"""	29822	protein-coding gene	gene with protein product	"""neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 3"", ""protein phosphatase 1, regulatory subunit 107"""	615479				11588169, 17029291, 21946561	Standard	NM_001198950		Approved	MYR8, KIAA0865, Myo16b, NYAP3, PPP1R107	uc001vqt.1	Q9Y6X6	OTTHUMG00000017333	ENST00000357550.2:c.383C>T	13.37:g.109379873C>T	ENSP00000350160:p.Thr128Met		Somatic				MYO16_ENST00000357550.2_Missense_Mutation_p.T128M|MYO16_ENST00000251041.5_Missense_Mutation_p.T128M	p.T128M	NM_015011.1	NP_055826.1	WXS	Illumina GAIIx	Phase_I	Q9Y6X6	MYO16_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)		4	509	+	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		128						Missense_Mutation	SNP	ENST00000357550.2	37	c.383C>T	CCDS32008.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	19.24	3.788984	0.70337	.	.	ENSG00000041515	ENST00000356711;ENST00000397258;ENST00000357550;ENST00000251041	T;T;T	0.75154	-0.91;-0.91;-0.91	4.68	4.68	0.58851	Ankyrin repeat-containing domain (4);	0.200080	0.23353	U	0.049115	D	0.90752	0.7097	H	0.96691	3.865	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.74674	0.939;0.984	D	0.93997	0.7272	9	.	.	.	.	16.9776	0.86317	0.0:1.0:0.0:0.0	.	128;128	Q9Y6X6-2;Q9Y6X6	.;MYO16_HUMAN	M	128	ENSP00000349145:T128M;ENSP00000350160:T128M;ENSP00000251041:T128M	.	T	+	2	0	MYO16	108177874	1.000000	0.71417	0.966000	0.40874	0.704000	0.40688	6.738000	0.74822	2.310000	0.77875	0.462000	0.41574	ACG		0.418	MYO16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045746.1	NM_015011		79	199	0	0	0	1	0	79	199				
LMNB1	4001	broad.mit.edu	37	5	126156695	126156695	+	Silent	SNP	G	G	A			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr5:126156695G>A	ENST00000261366.5	+	7	1615	c.1254G>A	c.(1252-1254)agG>agA	p.R418R	LMNB1_ENST00000460265.1_3'UTR	NM_001198557.1|NM_005573.3	NP_001185486.1|NP_005564.1	P20700	LMNB1_HUMAN	lamin B1	418	Tail.				apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	lamin filament (GO:0005638)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear inner membrane (GO:0005637)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(142;0.103)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.033)|OV - Ovarian serous cystadenocarcinoma(64;0.0398)|all cancers(49;0.0903)		AGCGGAAGAGGGTTGATGTGG	0.478																																						ENST00000261366.5																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(1252-1254)agG>agA		lamin B1							155.0	129.0	138.0					5																	126156695		2203	4300	6503	SO:0001819	synonymous_variant	4001				cellular component disassembly involved in apoptosis	lamin filament|nuclear inner membrane	protein binding|structural molecule activity	g.chr5:126156695G>A	L37737	CCDS4140.1	5q23.2	2013-01-16			ENSG00000113368	ENSG00000113368		"""Intermediate filaments type V, lamins"""	6637	protein-coding gene	gene with protein product		150340				7557986, 8838815	Standard	NM_005573		Approved		uc003kud.2	P20700	OTTHUMG00000128969	ENST00000261366.5:c.1254G>A	5.37:g.126156695G>A			Somatic				LMNB1_ENST00000460265.1_3'UTR	p.R418R	NM_001198557.1|NM_005573.3	NP_001185486.1|NP_005564.1	WXS	Illumina GAIIx	Phase_I	P20700	LMNB1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.033)|OV - Ovarian serous cystadenocarcinoma(64;0.0398)|all cancers(49;0.0903)	7	1615	+		all_cancers(142;0.103)|Prostate(80;0.081)	418			Tail.		B2R6J6|Q3SYN7|Q96EI6	Silent	SNP	ENST00000261366.5	37	c.1254G>A	CCDS4140.1																																																																																				0.478	LMNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250956.2	NM_005573		16	69	0	0	0	1	0	16	69				
GLI3	2737	broad.mit.edu	37	7	42063104	42063104	+	Missense_Mutation	SNP	C	C	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr7:42063104C>T	ENST00000395925.3	-	10	1544	c.1460G>A	c.(1459-1461)tGc>tAc	p.C487Y	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	487					anterior semicircular canal development (GO:0060873)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye morphogenesis (GO:0048593)|cell differentiation involved in kidney development (GO:0061005)|cerebral cortex radial glia guided migration (GO:0021801)|developmental growth (GO:0048589)|embryonic digestive tract development (GO:0048566)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain radial glial cell differentiation (GO:0021861)|frontal suture morphogenesis (GO:0060364)|heart development (GO:0007507)|hindgut morphogenesis (GO:0007442)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|lambdoid suture morphogenesis (GO:0060366)|lateral ganglionic eminence cell proliferation (GO:0022018)|lateral semicircular canal development (GO:0060875)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|mammary gland specification (GO:0060594)|melanocyte differentiation (GO:0030318)|metanephros development (GO:0001656)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative thymic T cell selection (GO:0045060)|nose morphogenesis (GO:0043585)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte differentiation (GO:0048709)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein processing (GO:0016485)|proximal/distal pattern formation (GO:0009954)|response to estrogen (GO:0043627)|sagittal suture morphogenesis (GO:0060367)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)|T cell differentiation in thymus (GO:0033077)|thymocyte apoptotic process (GO:0070242)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|primary cilium (GO:0072372)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						CTCCCTCGCGCAGCCTTCCCA	0.532									Pallister-Hall syndrome;Greig Cephalopolysyndactyly																													ENST00000395925.3																			0				NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						c.(1459-1461)tGc>tAc		GLI family zinc finger 3							155.0	118.0	130.0					7																	42063104		2203	4300	6503	SO:0001583	missense	2737	Pallister-Hall syndrome;Greig Cephalopolysyndactyly	Familial Cancer Database	;	negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:42063104C>T		CCDS5465.1	7p13	2013-01-25	2009-03-05		ENSG00000106571	ENSG00000106571		"""Zinc fingers, C2H2-type"""	4319	protein-coding gene	gene with protein product	"""zinc finger protein GLI3"", ""oncogene GLI3"", ""DNA-binding protein"""	165240	"""Greig cephalopolysyndactyly syndrome"", ""GLI-Kruppel family member GLI3"", ""glioma-associated oncogene family zinc finger 3"""	GCPS, PHS		2118997	Standard	NM_000168		Approved	PAP-A, PAPA, PAPA1, PAPB, ACLS, PPDIV	uc011kbh.2	P10071	OTTHUMG00000023630	ENST00000395925.3:c.1460G>A	7.37:g.42063104C>T	ENSP00000379258:p.Cys487Tyr		Somatic				GLI3_ENST00000479210.1_5'UTR	p.C487Y	NM_000168.5	NP_000159.3	WXS	Illumina GAIIx	Phase_I	P10071	GLI3_HUMAN			10	1544	-			487					A4D1W1|O75219|Q17RW4|Q75MT0|Q75MU9|Q9UDT5|Q9UJ39	Missense_Mutation	SNP	ENST00000395925.3	37	c.1460G>A	CCDS5465.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.724912	0.89298	.	.	ENSG00000106571	ENST00000395925	D	0.96136	-3.92	5.78	5.78	0.91487	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.000000	0.85682	D	0.000000	D	0.98760	0.9583	H	0.97635	4.045	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99257	1.0889	10	0.87932	D	0	.	20.0139	0.97470	0.0:1.0:0.0:0.0	.	487	P10071	GLI3_HUMAN	Y	487	ENSP00000379258:C487Y	ENSP00000379258:C487Y	C	-	2	0	GLI3	42029629	1.000000	0.71417	0.984000	0.44739	0.993000	0.82548	7.818000	0.86416	2.724000	0.93272	0.563000	0.77884	TGC		0.532	GLI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250806.3	NM_000168		4	175	0	0	0	1	0	4	175				
OR10K1	391109	broad.mit.edu	37	1	158435766	158435766	+	Missense_Mutation	SNP	G	G	A			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr1:158435766G>A	ENST00000289451.2	+	1	495	c.415G>A	c.(415-417)Ggg>Agg	p.G139R		NM_001004473.1	NP_001004473.1	Q8NGX5	O10K1_HUMAN	olfactory receptor, family 10, subfamily K, member 1	139						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	27	all_hematologic(112;0.0378)					CATGGGACATGGGGTGTGTAT	0.552																																						ENST00000289451.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	27						c.(415-417)Ggg>Agg		olfactory receptor, family 10, subfamily K, member 1							211.0	199.0	203.0					1																	158435766		2203	4300	6503	SO:0001583	missense	391109				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158435766G>A	AP002532	CCDS30897.1	1q23.1	2012-08-09			ENSG00000173285	ENSG00000173285		"""GPCR / Class A : Olfactory receptors"""	14693	protein-coding gene	gene with protein product							Standard	NM_001004473		Approved		uc010pij.2	Q8NGX5	OTTHUMG00000017517	ENST00000289451.2:c.415G>A	1.37:g.158435766G>A	ENSP00000289451:p.Gly139Arg		Somatic					p.G139R	NM_001004473.1	NP_001004473.1	WXS	Illumina GAIIx	Phase_I	Q8NGX5	O10K1_HUMAN			1	495	+	all_hematologic(112;0.0378)		139					Q6IFS2	Missense_Mutation	SNP	ENST00000289451.2	37	c.415G>A	CCDS30897.1	.	.	.	.	.	.	.	.	.	.	g	0.030	-1.338207	0.01287	.	.	ENSG00000173285	ENST00000289451	T	0.31769	1.48	4.5	0.486	0.16836	GPCR, rhodopsin-like superfamily (1);	0.886807	0.09470	N	0.797752	T	0.02455	0.0075	N	0.02225	-0.63	0.09310	N	1	B	0.28258	0.205	B	0.32289	0.143	T	0.44697	-0.9311	10	0.02654	T	1	.	4.7352	0.12984	0.3428:0.1501:0.5071:0.0	.	139	Q8NGX5	O10K1_HUMAN	R	139	ENSP00000289451:G139R	ENSP00000289451:G139R	G	+	1	0	OR10K1	156702390	0.000000	0.05858	0.000000	0.03702	0.710000	0.40934	-0.350000	0.07721	-0.072000	0.12864	-0.262000	0.10625	GGG		0.552	OR10K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046367.1			4	262	0	0	0	1	0	4	262				
SDK1	221935	broad.mit.edu	37	7	4051776	4051776	+	Missense_Mutation	SNP	G	G	A			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr7:4051776G>A	ENST00000404826.2	+	16	2468	c.2329G>A	c.(2329-2331)Gcc>Acc	p.A777T	SDK1_ENST00000389531.3_Missense_Mutation_p.A777T	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	777	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		AAATATAGTGGCCAGTGGGCG	0.517																																						ENST00000404826.2																			0				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153						c.(2329-2331)Gcc>Acc		sidekick cell adhesion molecule 1							138.0	153.0	148.0					7																	4051776		2203	4300	6503	SO:0001583	missense	221935				cell adhesion	integral to membrane		g.chr7:4051776G>A	AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19307	protein-coding gene	gene with protein product		607216	"""sidekick homolog 1 (chicken)"", ""sidekick homolog 1, cell adhesion molecule (chicken)"""			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.2329G>A	7.37:g.4051776G>A	ENSP00000385899:p.Ala777Thr		Somatic				SDK1_ENST00000389531.3_Missense_Mutation_p.A777T	p.A777T	NM_152744.3	NP_689957.3	WXS	Illumina GAIIx	Phase_I	Q7Z5N4	SDK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)	16	2468	+		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)	777			Fibronectin type-III 2.		Q8TEN9|Q8TEP5|Q96N44	Missense_Mutation	SNP	ENST00000404826.2	37	c.2329G>A	CCDS34590.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.536842	0.85812	.	.	ENSG00000146555	ENST00000404826;ENST00000389531	T;T	0.60299	0.2;0.2	5.28	5.28	0.74379	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000001	T	0.79028	0.4377	M	0.83953	2.67	0.58432	D	0.999992	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.99	T	0.82104	-0.0622	10	0.72032	D	0.01	.	18.9486	0.92632	0.0:0.0:1.0:0.0	.	777;777	F8W6X9;Q7Z5N4	.;SDK1_HUMAN	T	777	ENSP00000385899:A777T;ENSP00000374182:A777T	ENSP00000374182:A777T	A	+	1	0	SDK1	4018302	1.000000	0.71417	1.000000	0.80357	0.802000	0.45316	7.517000	0.81783	2.479000	0.83701	0.655000	0.94253	GCC		0.517	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1	NM_152744		7	778	0	0	0	1	0	7	778				
AHNAK	79026	broad.mit.edu	37	11	62291443	62291443	+	Missense_Mutation	SNP	G	G	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr11:62291443G>C	ENST00000378024.4	-	5	10720	c.10446C>G	c.(10444-10446)ttC>ttG	p.F3482L	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	3482					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CAGACACACTGAATTTGGGCA	0.453																																						ENST00000378024.4																			0				NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(10444-10446)ttC>ttG		AHNAK nucleoprotein							116.0	112.0	113.0					11																	62291443		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62291443G>C	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.10446C>G	11.37:g.62291443G>C	ENSP00000367263:p.Phe3482Leu		Somatic				AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	p.F3482L	NM_001620.1	NP_001611.1	WXS	Illumina GAIIx	Phase_I	Q09666	AHNK_HUMAN			5	10720	-		Melanoma(852;0.155)	3482					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.10446C>G	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	g	6.102	0.387035	0.11581	.	.	ENSG00000124942	ENST00000378024	T	0.01572	4.76	4.51	-5.87	0.02297	.	.	.	.	.	T	0.05273	0.0140	L	0.52573	1.65	0.25647	N	0.986134	D	0.63880	0.993	D	0.73708	0.981	T	0.00527	-1.1688	9	0.20519	T	0.43	.	14.5003	0.67716	0.7933:0.0:0.2067:0.0	.	3482	Q09666	AHNK_HUMAN	L	3482	ENSP00000367263:F3482L	ENSP00000367263:F3482L	F	-	3	2	AHNAK	62048019	0.000000	0.05858	0.004000	0.12327	0.008000	0.06430	-1.148000	0.03185	-1.335000	0.02241	-0.410000	0.06199	TTC		0.453	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		10	100	0	0	0	1	0	10	100				
SLC12A2	6558	broad.mit.edu	37	5	127486938	127486938	+	Missense_Mutation	SNP	C	C	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr5:127486938C>T	ENST00000262461.2	+	14	2302	c.2113C>T	c.(2113-2115)Cgt>Tgt	p.R705C	SLC12A2_ENST00000343225.4_Missense_Mutation_p.R705C	NM_001046.2	NP_001037.1	P55011	S12A2_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 2	705					ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|branching involved in mammary gland duct morphogenesis (GO:0060444)|chloride transmembrane transport (GO:1902476)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|gamma-aminobutyric acid signaling pathway (GO:0007214)|hyperosmotic response (GO:0006972)|ion transport (GO:0006811)|mammary duct terminal end bud growth (GO:0060763)|multicellular organism growth (GO:0035264)|positive regulation of cell volume (GO:0045795)|potassium ion transport (GO:0006813)|sodium ion transport (GO:0006814)|transepithelial ammonium transport (GO:0070634)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ammonium transmembrane transporter activity (GO:0008519)|sodium:potassium:chloride symporter activity (GO:0008511)			breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		all_cancers(142;0.0972)|Prostate(80;0.151)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	Bumetanide(DB00887)|Potassium Chloride(DB00761)|Quinethazone(DB01325)	GTTAGGATGGCGTCCTGCATT	0.348																																						ENST00000262461.2																			0				breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						c.(2113-2115)Cgt>Tgt		solute carrier family 12 (sodium/potassium/chloride transporter), member 2	Bumetanide(DB00887)|Potassium Chloride(DB00761)						209.0	201.0	204.0					5																	127486938		2203	4300	6503	SO:0001583	missense	6558				potassium ion transport|sodium ion transport|transepithelial ammonium transport|transepithelial chloride transport	integral to plasma membrane|membrane fraction	ammonia transmembrane transporter activity|sodium:potassium:chloride symporter activity	g.chr5:127486938C>T		CCDS4144.1, CCDS58965.1	5q23.3	2014-06-13	2013-07-18		ENSG00000064651	ENSG00000064651		"""Solute carriers"""	10911	protein-coding gene	gene with protein product	"""bumetanide-sensitive sodium-(potassium)-chloride cotransporter 1"", ""basolateral Na-K-Cl symporter"", ""protein phosphatase 1, regulatory subunit 141"""	600840				7629105	Standard	NM_001256461		Approved	NKCC1, BSC, BSC2, PPP1R141	uc003kus.3	P55011	OTTHUMG00000128983	ENST00000262461.2:c.2113C>T	5.37:g.127486938C>T	ENSP00000262461:p.Arg705Cys		Somatic				SLC12A2_ENST00000343225.4_Missense_Mutation_p.R705C	p.R705C	NM_001046.2	NP_001037.1	WXS	Illumina GAIIx	Phase_I	P55011	S12A2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	14	2302	+		all_cancers(142;0.0972)|Prostate(80;0.151)	705					Q8N713|Q8WWH7	Missense_Mutation	SNP	ENST00000262461.2	37	c.2113C>T	CCDS4144.1	.	.	.	.	.	.	.	.	.	.	C	19.53	3.845853	0.71603	.	.	ENSG00000064651	ENST00000262461;ENST00000343225	D;D	0.99532	-6.1;-6.1	4.86	4.86	0.63082	Amino acid permease domain (1);	0.000000	0.85682	D	0.000000	D	0.99819	0.9920	H	0.98295	4.195	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.74674	0.984;0.984	D	0.96735	0.9542	10	0.87932	D	0	.	18.5665	0.91119	0.0:1.0:0.0:0.0	.	705;705	P55011-3;P55011	.;S12A2_HUMAN	C	705	ENSP00000262461:R705C;ENSP00000340878:R705C	ENSP00000262461:R705C	R	+	1	0	SLC12A2	127514837	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.339000	0.43965	2.715000	0.92844	0.655000	0.94253	CGT		0.348	SLC12A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250972.1	NM_001046		19	167	0	0	0	1	0	19	167				
SALL4	57167	broad.mit.edu	37	20	50408873	50408873	+	Missense_Mutation	SNP	G	G	A			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr20:50408873G>A	ENST00000217086.4	-	2	260	c.149C>T	c.(148-150)cCa>cTa	p.P50L	SALL4_ENST00000395997.3_Missense_Mutation_p.P50L|SALL4_ENST00000483130.1_5'UTR|SALL4_ENST00000371539.3_Intron	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	50					embryonic limb morphogenesis (GO:0030326)|inner cell mass cell proliferation (GO:0001833)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|ventricular septum development (GO:0003281)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.P50Q(1)		endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GTCATTCCCTGGGTGGTTCAC	0.547																																						ENST00000217086.4																			1	Substitution - Missense(1)	p.P50Q(1)	lung(1)	endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(148-150)cCa>cTa		spalt-like transcription factor 4							46.0	48.0	48.0					20																	50408873		2203	4300	6503	SO:0001583	missense	57167				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:50408873G>A	AK001666	CCDS13438.1	20q13.2	2014-09-17	2013-10-17		ENSG00000101115	ENSG00000101115		"""Zinc fingers, C2H2-type"""	15924	protein-coding gene	gene with protein product		607343	"""sal (Drosophila)-like 4"", ""sal-like 4 (Drosophila)"""				Standard	NM_020436		Approved	dJ1112F19.1, ZNF797	uc002xwh.4	Q9UJQ4	OTTHUMG00000032752	ENST00000217086.4:c.149C>T	20.37:g.50408873G>A	ENSP00000217086:p.Pro50Leu		Somatic				SALL4_ENST00000483130.1_5'UTR|SALL4_ENST00000371539.3_Intron|SALL4_ENST00000395997.3_Missense_Mutation_p.P50L	p.P50L	NM_020436.3	NP_065169.1	WXS	Illumina GAIIx	Phase_I	Q9UJQ4	SALL4_HUMAN			2	260	-			50					A2A2D8|Q540H3|Q6Y8G6	Missense_Mutation	SNP	ENST00000217086.4	37	c.149C>T	CCDS13438.1	.	.	.	.	.	.	.	.	.	.	G	12.24	1.879584	0.33162	.	.	ENSG00000101115	ENST00000217086;ENST00000395997	T;T	0.54675	0.56;0.56	5.41	-2.51	0.06365	.	0.803272	0.10532	N	0.663676	T	0.41351	0.1155	L	0.43701	1.375	0.19300	N	0.999971	B;B	0.11235	0.004;0.002	B;B	0.09377	0.004;0.003	T	0.26360	-1.0105	10	0.38643	T	0.18	-0.5668	10.8104	0.46543	0.449:0.0:0.551:0.0	.	50;50	A2A2D8;Q9UJQ4	.;SALL4_HUMAN	L	50	ENSP00000217086:P50L;ENSP00000379319:P50L	ENSP00000217086:P50L	P	-	2	0	SALL4	49842280	0.510000	0.26171	0.000000	0.03702	0.002000	0.02628	0.937000	0.28951	-0.813000	0.04357	-0.136000	0.14681	CCA		0.547	SALL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079738.3			5	406	0	0	0	1	0	5	406				
MKI67	4288	broad.mit.edu	37	10	129903439	129903439	+	Missense_Mutation	SNP	C	C	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr10:129903439C>T	ENST00000368654.3	-	13	7040	c.6665G>A	c.(6664-6666)aGa>aAa	p.R2222K	MKI67_ENST00000368653.3_Missense_Mutation_p.R1862K	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	2222	16 X 122 AA approximate repeats.				cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TTGTGGAGATCTGCAGGCTAT	0.493																																						ENST00000368654.3																			0				NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159						c.(6664-6666)aGa>aAa		marker of proliferation Ki-67							241.0	233.0	236.0					10																	129903439		2203	4300	6503	SO:0001583	missense	4288				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	g.chr10:129903439C>T	X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 105"""	176741	"""antigen identified by monoclonal antibody Ki-67"""			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.6665G>A	10.37:g.129903439C>T	ENSP00000357643:p.Arg2222Lys		Somatic				MKI67_ENST00000368653.3_Missense_Mutation_p.R1862K	p.R2222K	NM_002417.4	NP_002408.3	WXS	Illumina GAIIx	Phase_I	P46013	KI67_HUMAN			13	7040	-		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)	2222			16 X 122 AA approximate repeats.		Q5VWH2	Missense_Mutation	SNP	ENST00000368654.3	37	c.6665G>A	CCDS7659.1	.	.	.	.	.	.	.	.	.	.	C	0.009	-1.799252	0.00617	.	.	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609	T;T	0.01854	4.6;4.6	2.88	-5.76	0.02376	.	1.412200	0.04738	N	0.422362	T	0.00695	0.0023	N	0.00525	-1.395	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.43327	-0.9398	10	0.05620	T	0.96	.	7.615	0.28152	0.0:0.5416:0.2828:0.1756	.	2221;1862;2222	F5H4V4;P46013-2;P46013	.;.;KI67_HUMAN	K	2222;1862;2221	ENSP00000357643:R2222K;ENSP00000357642:R1862K	ENSP00000357642:R1862K	R	-	2	0	MKI67	129793429	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.260000	0.01177	-2.482000	0.00522	-1.069000	0.02264	AGA		0.493	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		5	753	0	0	0	1	0	5	753				
FAM120B	84498	broad.mit.edu	37	6	170627847	170627847	+	Missense_Mutation	SNP	C	C	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr6:170627847C>T	ENST00000476287.1	+	2	1477	c.1369C>T	c.(1369-1371)Ccc>Tcc	p.P457S	FAM120B_ENST00000540480.1_Missense_Mutation_p.P469S|FAM120B_ENST00000252510.9_Intron|FAM120B_ENST00000537664.1_Missense_Mutation_p.P480S	NM_032448.1	NP_115824.1	Q96EK7	F120B_HUMAN	family with sequence similarity 120B	457					cell differentiation (GO:0030154)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(2)	44		Breast(66;0.000338)|Esophageal squamous(34;0.241)		OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899)		AGGCTCTGAACCCAGGCAAGA	0.473																																						ENST00000476287.1																			0				endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(2)	44						c.(1369-1371)Ccc>Tcc		family with sequence similarity 120B							172.0	187.0	182.0					6																	170627847		2203	4300	6503	SO:0001583	missense	84498				cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr6:170627847C>T	AB058741	CCDS5314.1, CCDS75555.1	6q27	2011-04-13	2006-07-04	2006-07-04	ENSG00000112584	ENSG00000112584			21109	protein-coding gene	gene with protein product	"""PPARgamma constitutive coactivator 1"", ""constitutive coactivator of PPAR-gamma"""	612266	"""KIAA1838"""	KIAA1838		14585507	Standard	NM_032448		Approved	PGCC1, CCPG	uc003qxp.3	Q96EK7	OTTHUMG00000016080	ENST00000476287.1:c.1369C>T	6.37:g.170627847C>T	ENSP00000417970:p.Pro457Ser		Somatic				FAM120B_ENST00000252510.9_Intron|FAM120B_ENST00000537664.1_Missense_Mutation_p.P480S|FAM120B_ENST00000540480.1_Missense_Mutation_p.P469S	p.P457S	NM_032448.1	NP_115824.1	WXS	Illumina GAIIx	Phase_I	Q96EK7	F120B_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899)	2	1477	+		Breast(66;0.000338)|Esophageal squamous(34;0.241)	457					B4DL34|Q86V68|Q96JI9	Missense_Mutation	SNP	ENST00000476287.1	37	c.1369C>T	CCDS5314.1	.	.	.	.	.	.	.	.	.	.	T	0.012	-1.647609	0.00792	.	.	ENSG00000112584	ENST00000540480;ENST00000537664;ENST00000476287	T;T;T	0.07908	3.15;3.2;3.2	2.42	-4.83	0.03161	.	2.392910	0.01799	N	0.032807	T	0.00384	0.0012	N	0.01188	-0.97	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.39881	-0.9592	10	0.02654	T	1	.	0.624	0.00783	0.4117:0.1633:0.2083:0.2166	.	457;457	Q96EK7;F2Z2E1	F120B_HUMAN;.	S	469;480;457	ENSP00000444125:P469S;ENSP00000440125:P480S;ENSP00000417970:P457S	ENSP00000436640:P457S	P	+	1	0	FAM120B	170469772	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-8.486000	0.00020	-5.932000	0.00008	-2.460000	0.00205	CCC		0.473	FAM120B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000043259.2	NM_032448		5	188	0	0	0	1	0	5	188				
AP1G2	8906	broad.mit.edu	37	14	24033790	24033790	+	Missense_Mutation	SNP	C	C	T	rs199577396		TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr14:24033790C>T	ENST00000308724.5	-	8	1657	c.902G>A	c.(901-903)cGc>cAc	p.R301H	AP1G2_ENST00000397120.3_Missense_Mutation_p.R301H|RP11-66N24.3_ENST00000555968.1_RNA|AP1G2_ENST00000556277.1_5'Flank	NM_003917.2	NP_003908.1	O75843	AP1G2_HUMAN	adaptor-related protein complex 1, gamma 2 subunit	301					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	AP-1 adaptor complex (GO:0030121)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|Golgi-associated vesicle (GO:0005798)|membrane (GO:0016020)|transport vesicle (GO:0030133)	protein transporter activity (GO:0008565)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	28	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00672)		AGCTGCAGAGCGGATATCCAT	0.587													C|||	1	0.000199681	0.0	0.0	5008	,	,		20791	0.001		0.0	False		,,,				2504	0.0					ENST00000308724.5																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	28						c.(901-903)cGc>cAc		adaptor-related protein complex 1, gamma 2 subunit							150.0	106.0	121.0					14																	24033790		2203	4300	6503	SO:0001583	missense	8906				interspecies interaction between organisms|intracellular protein transport|vesicle-mediated transport	AP-1 adaptor complex|endosome membrane	protein binding|protein transporter activity	g.chr14:24033790C>T	AB015318	CCDS9602.1	14q11.2	2008-07-03			ENSG00000213983	ENSG00000213983			556	protein-coding gene	gene with protein product		603534				9733768, 9762922	Standard	XM_005268167		Approved	G2AD	uc001wkl.2	O75843	OTTHUMG00000028760	ENST00000308724.5:c.902G>A	14.37:g.24033790C>T	ENSP00000312442:p.Arg301His		Somatic				RP11-66N24.3_ENST00000555968.1_RNA|AP1G2_ENST00000397120.3_Missense_Mutation_p.R301H	p.R301H	NM_003917.2	NP_003908.1	WXS	Illumina GAIIx	Phase_I	O75843	AP1G2_HUMAN		GBM - Glioblastoma multiforme(265;0.00672)	8	1657	-	all_cancers(95;0.000251)		301					D3DS51|O75504	Missense_Mutation	SNP	ENST00000308724.5	37	c.902G>A	CCDS9602.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	12.24	1.879888	0.33162	.	.	ENSG00000213983	ENST00000308724;ENST00000397120;ENST00000545295;ENST00000535852	T;T	0.12984	2.63;2.63	3.98	3.07	0.35406	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.331441	0.29480	N	0.012034	T	0.11495	0.0280	L	0.47716	1.5	0.33360	D	0.57219	B;B	0.18610	0.007;0.029	B;B	0.19148	0.015;0.024	T	0.06570	-1.0819	10	0.51188	T	0.08	-7.9542	5.562	0.17150	0.0:0.747:0.0:0.253	.	301;156	O75843;Q86V28	AP1G2_HUMAN;.	H	301;301;70;156	ENSP00000312442:R301H;ENSP00000380309:R301H	ENSP00000312442:R301H	R	-	2	0	AP1G2	23103630	0.080000	0.21391	0.995000	0.50966	0.585000	0.36419	-0.184000	0.09698	0.858000	0.35431	0.313000	0.20887	CGC		0.587	AP1G2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071812.4	NM_003917		5	216	0	0	0	1	0	5	216				
FHOD3	80206	broad.mit.edu	37	18	34327050	34327050	+	Missense_Mutation	SNP	C	C	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr18:34327050C>T	ENST00000359247.4	+	20	3608	c.3608C>T	c.(3607-3609)gCa>gTa	p.A1203V	FHOD3_ENST00000257209.4_Missense_Mutation_p.A1220V|FHOD3_ENST00000445677.1_Missense_Mutation_p.A1182V|FHOD3_ENST00000590592.1_Missense_Mutation_p.A1395V|FHOD3_ENST00000591635.1_Missense_Mutation_p.A416V|FHOD3_ENST00000592128.1_Missense_Mutation_p.A199V	NM_001281739.1	NP_001268668.1	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	1203	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin filament network formation (GO:0051639)|cardiac myofibril assembly (GO:0055003)|negative regulation of actin filament polymerization (GO:0030837)|sarcomere organization (GO:0045214)	striated muscle thin filament (GO:0005865)				NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				AAAGACTGTGCAGAGCGAATT	0.353																																						ENST00000257209.4																			0				NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90						c.(3658-3660)gCa>gTa		formin homology 2 domain containing 3							78.0	79.0	79.0					18																	34327050		2203	4300	6503	SO:0001583	missense	80206				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	g.chr18:34327050C>T	AK091899	CCDS32816.1, CCDS62418.1, CCDS62419.1	18q12	2007-08-02				ENSG00000134775			26178	protein-coding gene	gene with protein product		609691				11214970	Standard	NM_025135		Approved	FHOS2, KIAA1695, FLJ22297, FLJ22717	uc021uiv.1	Q2V2M9		ENST00000359247.4:c.3608C>T	18.37:g.34327050C>T	ENSP00000352186:p.Ala1203Val		Somatic				FHOD3_ENST00000592128.1_Missense_Mutation_p.A199V|FHOD3_ENST00000590592.1_Missense_Mutation_p.A1395V|FHOD3_ENST00000359247.4_Missense_Mutation_p.A1203V|FHOD3_ENST00000445677.1_Missense_Mutation_p.A1182V|FHOD3_ENST00000591635.1_Missense_Mutation_p.A416V	p.A1220V	NM_025135.2	NP_079411.2	WXS	Illumina GAIIx	Phase_I	Q2V2M9	FHOD3_HUMAN			21	3781	+		all_epithelial(2;0.0181)|Colorectal(2;0.0195)	1203			FH2.		A8MQT4|E5F5Q0|Q642I2|Q6ZRQ7|Q86TF9|Q8N3A5|Q9C0G8|Q9H604|Q9H6G7	Missense_Mutation	SNP	ENST00000359247.4	37	c.3659C>T		.	.	.	.	.	.	.	.	.	.	C	35	5.508676	0.96386	.	.	ENSG00000134775	ENST00000257209;ENST00000359247;ENST00000445677	T;T;T	0.18174	2.23;2.23;2.23	5.67	5.67	0.87782	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.000000	0.85682	D	0.000000	T	0.46132	0.1377	M	0.79123	2.44	0.80722	D	1	D;D;D;P	0.89917	0.984;1.0;1.0;0.928	D;D;D;P	0.87578	0.959;0.997;0.998;0.837	T	0.41752	-0.9491	10	0.72032	D	0.01	.	18.3342	0.90282	0.0:1.0:0.0:0.0	.	424;1182;1203;1220	E7ETX5;Q2V2M9-2;Q2V2M9;Q2V2M9-3	.;.;FHOD3_HUMAN;.	V	1220;1203;1182	ENSP00000257209:A1220V;ENSP00000352186:A1203V;ENSP00000411430:A1182V	ENSP00000257209:A1220V	A	+	2	0	FHOD3	32581048	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	2.677000	0.91161	0.462000	0.41574	GCA		0.353	FHOD3-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460884.1	XM_371114		8	701	0	0	0	1	0	8	701				
ATRX	546	broad.mit.edu	37	X	76764091	76764091	+	Missense_Mutation	SNP	T	T	A			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chrX:76764091T>A	ENST00000373344.5	-	35	7431	c.7217A>T	c.(7216-7218)cAg>cTg	p.Q2406L	ATRX_ENST00000395603.3_Missense_Mutation_p.Q2368L|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	2406					ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						AAGTATTCGCTGAACACAGCT	0.393			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"""Mis, F, N"""	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"""Pancreatic neuroendocrine tumors, paediatric GBM"""		0				bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						c.(7216-7218)cAg>cTg		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)						138.0	138.0	138.0					X																	76764091		2203	4296	6499	SO:0001583	missense	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76764091T>A	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.7217A>T	X.37:g.76764091T>A	ENSP00000362441:p.Gln2406Leu		Somatic				ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.Q2368L	p.Q2406L	NM_000489.3	NP_000480.2	WXS	Illumina GAIIx	Phase_I	P46100	ATRX_HUMAN			35	7431	-			2406					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Missense_Mutation	SNP	ENST00000373344.5	37	c.7217A>T	CCDS14434.1	.	.	.	.	.	.	.	.	.	.	T	11.61	1.688974	0.29962	.	.	ENSG00000085224	ENST00000373344;ENST00000395603	D;D	0.93366	-3.2;-3.21	5.15	5.15	0.70609	.	0.000000	0.64402	D	0.000001	D	0.94241	0.8151	L	0.34521	1.04	0.80722	D	1	D;D	0.63880	0.989;0.993	D;D	0.75020	0.985;0.977	D	0.94982	0.8126	10	0.72032	D	0.01	.	14.3267	0.66526	0.0:0.0:0.0:1.0	.	2368;2406	P46100-4;P46100	.;ATRX_HUMAN	L	2406;2368	ENSP00000362441:Q2406L;ENSP00000378967:Q2368L	ENSP00000362441:Q2406L	Q	-	2	0	ATRX	76650747	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.436000	0.66538	1.830000	0.53286	0.437000	0.28790	CAG		0.393	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		4	184	0	0	0	1	0	4	184				
MT1H	4496	broad.mit.edu	37	16	56704858	56704858	+	Missense_Mutation	SNP	G	G	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr16:56704858G>T	ENST00000332374.4	+	3	214	c.143G>T	c.(142-144)tGc>tTc	p.C48F	MT1H_ENST00000569155.1_3'UTR|MT1G_ENST00000568675.1_5'Flank|MT1G_ENST00000379811.3_5'Flank|MT1G_ENST00000569500.1_5'Flank|MT1G_ENST00000444837.2_5'Flank	NM_005951.2	NP_005942.1	P80294	MT1H_HUMAN	metallothionein 1H	48	Alpha.				cellular response to cadmium ion (GO:0071276)|cellular response to zinc ion (GO:0071294)|negative regulation of growth (GO:0045926)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	zinc ion binding (GO:0008270)			lung(5)	5						GCCCAGGGCTGCATCTGCAAA	0.567																																						ENST00000332374.4																			0				lung(5)	5						c.(142-144)tGc>tTc		metallothionein 1H							111.0	104.0	106.0					16																	56704858		2198	4300	6498	SO:0001583	missense	4496						metal ion binding|protein binding	g.chr16:56704858G>T	BC008408	CCDS10767.1	16q13	2008-02-05			ENSG00000205358	ENSG00000205358		"""Metallothioneins"""	7400	protein-coding gene	gene with protein product		156354		MT1		2286373, 8049263	Standard	NM_005951		Approved		uc002ejw.3	P80294	OTTHUMG00000133283	ENST00000332374.4:c.143G>T	16.37:g.56704858G>T	ENSP00000330587:p.Cys48Phe		Somatic				MT1H_ENST00000569155.1_3'UTR	p.C48F	NM_005951.2	NP_005942.1	WXS	Illumina GAIIx	Phase_I	P80294	MT1H_HUMAN			3	214	+			48			Alpha.		B2RUY6	Missense_Mutation	SNP	ENST00000332374.4	37	c.143G>T	CCDS10767.1	.	.	.	.	.	.	.	.	.	.	G	9.371	1.070588	0.20147	.	.	ENSG00000205358	ENST00000332374	T	0.46063	0.88	2.6	1.61	0.23674	Metallothionein domain, vertebrate (1);Metallothionein domain (1);	0.000000	0.85682	U	0.000000	T	0.37625	0.1010	.	.	.	0.80722	D	1	P	0.37708	0.606	B	0.41088	0.347	T	0.15954	-1.0419	9	0.87932	D	0	0.0154	6.5639	0.22501	0.1538:0.0:0.8462:0.0	.	48	P80294	MT1H_HUMAN	F	48	ENSP00000330587:C48F	ENSP00000330587:C48F	C	+	2	0	MT1H	55262359	1.000000	0.71417	0.554000	0.28268	0.079000	0.17450	4.771000	0.62318	0.194000	0.20326	0.313000	0.20887	TGC		0.567	MT1H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257063.1	NM_005951		53	97	1	0	4.10029e-35	1	4.83687e-35	53	97				
RHCE	6006	broad.mit.edu	37	1	25718602	25718602	+	Missense_Mutation	SNP	A	A	G			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr1:25718602A>G	ENST00000294413.7	-	4	575	c.517T>C	c.(517-519)Tac>Cac	p.Y173H	RHCE_ENST00000349320.3_Missense_Mutation_p.Y157H|RHCE_ENST00000340849.4_Intron|RHCE_ENST00000346452.4_Intron|RHCE_ENST00000374352.2_Missense_Mutation_p.Y157H|RHCE_ENST00000243186.6_Missense_Mutation_p.Y173H|RHCE_ENST00000413854.1_Missense_Mutation_p.Y173H|RHCE_ENST00000425135.1_Missense_Mutation_p.Y173H|RHCE_ENST00000349438.4_Missense_Mutation_p.Y173H|RHCE_ENST00000455194.1_Intron	NM_020485.4	NP_065231	P18577	RHCE_HUMAN	Rh blood group, CcEe antigens	173						integral component of plasma membrane (GO:0005887)	ammonium transmembrane transporter activity (GO:0008519)			endometrium(8)|large_intestine(6)|lung(3)	17		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0426)|OV - Ovarian serous cystadenocarcinoma(117;2.12e-27)|Colorectal(126;3.16e-08)|COAD - Colon adenocarcinoma(152;1.72e-06)|STAD - Stomach adenocarcinoma(196;0.00035)|KIRC - Kidney renal clear cell carcinoma(1967;0.000769)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|GBM - Glioblastoma multiforme(114;0.00458)|READ - Rectum adenocarcinoma(331;0.0649)		GCGAACACGTAGAAGTGCCTC	0.537																																						ENST00000349320.3																			0				endometrium(8)|large_intestine(6)|lung(3)	17						c.(469-471)Tac>Cac		Rh blood group, CcEe antigens							244.0	197.0	213.0					1																	25718602		2203	4300	6503	SO:0001583	missense	6006					integral to plasma membrane		g.chr1:25718602A>G	BC075081	CCDS30634.1, CCDS30635.1, CCDS30636.1, CCDS30637.1	1p36.11	2014-09-17	2006-02-23		ENSG00000188672	ENSG00000188672		"""CD molecules"", ""Blood group antigens"""	10008	protein-coding gene	gene with protein product		111700	"""Rhesus blood group, CcEe antigens"""	RH		8220426	Standard	NM_138618		Approved	CD240CE	uc001bkf.3	P18577	OTTHUMG00000007650	ENST00000294413.7:c.517T>C	1.37:g.25718602A>G	ENSP00000294413:p.Tyr173His		Somatic				RHCE_ENST00000455194.1_Intron|RHCE_ENST00000425135.1_Missense_Mutation_p.Y173H|RHCE_ENST00000413854.1_Missense_Mutation_p.Y173H|RHCE_ENST00000374352.2_Missense_Mutation_p.Y157H|RHCE_ENST00000349438.4_Missense_Mutation_p.Y173H|RHCE_ENST00000346452.4_Intron|RHCE_ENST00000340849.4_Intron|RHCE_ENST00000294413.7_Missense_Mutation_p.Y173H|RHCE_ENST00000243186.6_Missense_Mutation_p.Y173H	p.Y157H			WXS	Illumina GAIIx	Phase_I	P18577	RHCE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0426)|OV - Ovarian serous cystadenocarcinoma(117;2.12e-27)|Colorectal(126;3.16e-08)|COAD - Colon adenocarcinoma(152;1.72e-06)|STAD - Stomach adenocarcinoma(196;0.00035)|KIRC - Kidney renal clear cell carcinoma(1967;0.000769)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|GBM - Glioblastoma multiforme(114;0.00458)|READ - Rectum adenocarcinoma(331;0.0649)	6	857	-		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)	173					A7DW68|B7UDF3|B7UDF4|B7UDF5|B7UDF6|B7UDF7|B7UDF8|B7UDF9|B7UDG0|B7UDG1|B7UDG2|B7UDG3|Q02163|Q02164|Q02165|Q16160|Q2MJW0|Q2VC86|Q3LTM6|Q6AZX5|Q6J2U3|Q7RU06|Q8IZT2|Q8IZT3|Q8IZT4|Q8IZT5|Q9UD13|Q9UD14|Q9UD15|Q9UD16|Q9UD73|Q9UD74|Q9UEC2|Q9UEC3|Q9UPN0	Missense_Mutation	SNP	ENST00000294413.7	37	c.469T>C	CCDS30635.1	.	.	.	.	.	.	.	.	.	.	a	0.001	-3.005233	0.00044	.	.	ENSG00000188672	ENST00000413854;ENST00000374352;ENST00000243186;ENST00000425135;ENST00000349320;ENST00000294413;ENST00000447203;ENST00000349438	T;T;T;T;T;T;T	0.05382	3.45;3.45;3.45;3.45;3.45;3.45;3.45	3.99	1.97	0.26223	Ammonium transporter AmtB-like (3);	0.106561	0.64402	N	0.000006	T	0.00875	0.0029	N	0.00035	-2.55	0.09310	N	1	B;B;B	0.06786	0.001;0.0;0.001	B;B;B	0.13407	0.002;0.001;0.009	T	0.45469	-0.9259	10	0.02654	T	1	-7.174	6.2105	0.20626	0.2569:0.0:0.7431:0.0	.	157;173;173	Q5VSJ9;Q5VSJ8;P18577	.;.;RHCE_HUMAN	H	173;157;173;173;157;173;173;173	ENSP00000415417:Y173H;ENSP00000363472:Y157H;ENSP00000243186:Y173H;ENSP00000392809:Y173H;ENSP00000311185:Y157H;ENSP00000294413:Y173H;ENSP00000334570:Y173H	ENSP00000243186:Y173H	Y	-	1	0	RHCE	25591189	0.844000	0.29557	0.007000	0.13788	0.001000	0.01503	2.342000	0.43992	0.369000	0.24510	-1.277000	0.01392	TAC		0.537	RHCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020312.2	NM_020485		5	412	0	0	0	1	0	5	412				
RCHY1	25898	broad.mit.edu	37	4	76407825	76407825	+	Missense_Mutation	SNP	C	C	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr4:76407825C>T	ENST00000324439.5	-	9	1107	c.709G>A	c.(709-711)Ggc>Agc	p.G237S	RCHY1_ENST00000451788.1_3'UTR|RCHY1_ENST00000380840.2_Missense_Mutation_p.G197S|RCHY1_ENST00000512706.1_Missense_Mutation_p.G215S|RCHY1_ENST00000513257.1_Missense_Mutation_p.G228S	NM_001278536.1|NM_001278538.1|NM_001278539.1	NP_001265465.1|NP_001265467.1|NP_001265468.1	Q96PM5	ZN363_HUMAN	ring finger and CHY zinc finger domain containing 1, E3 ubiquitin protein ligase	237					positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination (GO:0031398)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|p53 binding (GO:0002039)|protein homodimerization activity (GO:0042803)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			large_intestine(2)|pancreas(1)	3			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			CATTTCATGCCTAATATATGA	0.348																																						ENST00000324439.5																			0				large_intestine(2)|pancreas(1)	3						c.(709-711)Ggc>Agc		ring finger and CHY zinc finger domain containing 1, E3 ubiquitin protein ligase							106.0	99.0	101.0					4																	76407825		2203	4300	6503	SO:0001583	missense	25898				positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein autoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nuclear speck|ubiquitin ligase complex	electron carrier activity|p53 binding|protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr4:76407825C>T	AF255666	CCDS3567.1, CCDS34012.1, CCDS63990.1, CCDS63991.1, CCDS63992.1	4q21.1-q21.3	2014-02-17	2012-02-23	2004-03-30	ENSG00000163743	ENSG00000163743		"""RING-type (C3HC4) zinc fingers"""	17479	protein-coding gene	gene with protein product	"""androgen-receptor N-terminal-interacting protein"", ""p53-induced protein with a RING-H2 domain"", ""zinc finger, CHY-type"""	607680	"""zinc finger protein 363"", ""ring finger and CHY zinc finger domain containing 1"""	ZNF363		12654245	Standard	NM_015436		Approved	CHIMP, DKFZp586C1620, PRO1996, RNF199, ARNIP, PIRH2, ZCHY	uc003hik.3	Q96PM5	OTTHUMG00000130105	ENST00000324439.5:c.709G>A	4.37:g.76407825C>T	ENSP00000321239:p.Gly237Ser		Somatic				RCHY1_ENST00000513257.1_Missense_Mutation_p.G228S|RCHY1_ENST00000451788.1_3'UTR|RCHY1_ENST00000380840.2_Missense_Mutation_p.G197S|RCHY1_ENST00000512706.1_Missense_Mutation_p.G215S	p.G237S	NM_001278536.1|NM_001278538.1|NM_001278539.1	NP_001265465.1|NP_001265467.1|NP_001265468.1	WXS	Illumina GAIIx	Phase_I	Q96PM5	ZN363_HUMAN	Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)		9	1107	-			237					B3KRG3|C7E541|C7E542|C7E543|D3YRV2|E7EMC8|E7ETW5|J3KPI0|Q2KN33|Q59GN7|Q86X26|Q96PR5	Missense_Mutation	SNP	ENST00000324439.5	37	c.709G>A	CCDS3567.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.707535	0.89018	.	.	ENSG00000163743	ENST00000324439;ENST00000380840;ENST00000512706;ENST00000513257;ENST00000507014	T;T;T	0.33216	1.45;1.42;1.46	5.87	5.03	0.67393	Rubredoxin-type Fe(Cys)4 protein (1);	0.000000	0.85682	D	0.000000	T	0.61388	0.2343	M	0.89785	3.06	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.998;0.999;1.0	T	0.68010	-0.5522	10	0.51188	T	0.08	-19.0635	12.6794	0.56914	0.0:0.9205:0.0:0.0795	.	188;215;228;237	E7EMC8;E7ETW5;Q96PM5-2;Q96PM5	.;.;.;ZN363_HUMAN	S	237;197;215;228;188	ENSP00000321239:G237S;ENSP00000370220:G197S;ENSP00000423976:G215S	ENSP00000321239:G237S	G	-	1	0	RCHY1	76626849	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.328000	0.72915	1.479000	0.48272	0.650000	0.86243	GGC		0.348	RCHY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252411.2	NM_015436		4	214	0	0	0	1	0	4	214				
KANSL2	54934	broad.mit.edu	37	12	49061476	49061476	+	Splice_Site	SNP	G	G	A			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr12:49061476G>A	ENST00000420613.2	-	7	1020	c.973C>T	c.(973-975)Cat>Tat	p.H325Y	SNORA2B_ENST00000384583.1_RNA|KANSL2_ENST00000553086.1_Splice_Site_p.H325Y|KANSL2_ENST00000550347.1_Splice_Site_p.H508Y|KANSL2_ENST00000357861.3_Splice_Site_p.Q130*	NM_017822.3	NP_060292.3	Q9H9L4	KANL2_HUMAN	KAT8 regulatory NSL complex subunit 2	325					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)	histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)											AAAAAGATACGGGTAAGGCAG	0.448																																						ENST00000550347.1																			0											c.e6+1		KAT8 regulatory NSL complex subunit 2							141.0	136.0	138.0					12																	49061476		1953	4146	6099	SO:0001630	splice_region_variant	54934							g.chr12:49061476G>A	AK094528	CCDS44869.1	12q13.11	2011-10-31	2011-10-31	2011-10-31	ENSG00000139620	ENSG00000139620			26024	protein-coding gene	gene with protein product		615488	"""chromosome 12 open reading frame 41"""	C12orf41		12477932	Standard	NM_017822		Approved	FLJ20436, NSL2	uc001rrz.2	Q9H9L4	OTTHUMG00000170392	ENST00000420613.2:c.973+1C>T	12.37:g.49061476G>A			Somatic				KANSL2_ENST00000357861.3_Splice_Site_p.Q130_splice|KANSL2_ENST00000420613.2_Splice_Site_p.H325_splice|KANSL2_ENST00000553086.1_Splice_Site_p.H325_splice	p.H508_splice			WXS	Illumina GAIIx	Phase_I	Q9H9L4	CL041_HUMAN			6	1565	-			325					Q8N3B5|Q96CV0|Q9NX51	Splice_Site	SNP	ENST00000420613.2	37	c.1522_splice	CCDS44869.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	42|42	9.461493|9.461493	0.99177|0.99177	.|.	.|.	ENSG00000139620|ENSG00000139620	ENST00000550347;ENST00000420613;ENST00000547087;ENST00000553086|ENST00000357861	T;T;T;T|.	0.72835|.	-0.69;-0.69;-0.69;-0.69|.	5.68|5.68	5.68|5.68	0.88126|0.88126	.|.	0.047916|.	0.85682|.	D|.	0.000000|.	T|.	0.79155|.	0.4398|.	M|M	0.80982|0.80982	2.52|2.52	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0|.	D;D;D;D|.	0.80764|.	0.992;0.991;0.994;0.983|.	T|.	0.78816|.	-0.2055|.	9|.	.|.	.|.	.|.	-16.6187|-16.6187	18.9233|18.9233	0.92534|0.92534	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	508;325;130;325|.	F8VX10;Q9H9L4;Q9H9L4-2;F8VXI8|.	.;CL041_HUMAN;.;.|.	Y|X	508;325;73;325|130	ENSP00000449747:H508Y;ENSP00000415436:H325Y;ENSP00000447608:H73Y;ENSP00000448833:H325Y|.	.|.	H|Q	-|-	1|1	0|0	C12orf41|C12orf41	47347743|47347743	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.980000|0.980000	0.70556|0.70556	8.574000|8.574000	0.90763|0.90763	2.838000|2.838000	0.97847|0.97847	0.563000|0.563000	0.77884|0.77884	CAT|CAG		0.448	KANSL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408841.1	NM_017822	Missense_Mutation	6	346	0	0	0	1	0	6	346				
CIDEC	63924	broad.mit.edu	37	3	9911695	9911695	+	Missense_Mutation	SNP	C	C	T	rs200012502		TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr3:9911695C>T	ENST00000336832.2	-	5	564	c.425G>A	c.(424-426)cGt>cAt	p.R142H	CIDEC_ENST00000383817.1_Intron|CIDEC_ENST00000443115.1_Intron|CIDEC_ENST00000430427.1_Missense_Mutation_p.R152H|CIDEC_ENST00000423850.1_Missense_Mutation_p.R68H|CIDEC_ENST00000455015.1_Missense_Mutation_p.R68H	NM_001199552.1|NM_001199623.1|NM_022094.3	NP_001186481.1|NP_001186552.1|NP_071377.2	Q96AQ7	CIDEC_HUMAN	cell death-inducing DFFA-like effector c	142					apoptotic process (GO:0006915)|execution phase of apoptosis (GO:0097194)|lipid particle organization (GO:0034389)|regulation of apoptotic process (GO:0042981)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|lipid particle (GO:0005811)|nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)|skin(1)	8	Medulloblastoma(99;0.227)					AAACGTTACACGGGCCACATC	0.488																																						ENST00000336832.2																			0				breast(2)|central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)|skin(1)	8						c.(424-426)cGt>cAt		cell death-inducing DFFA-like effector c		C	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	159.0	146.0	151.0		455,425,464,425	3.2	0.4	3		151	3,8597	3.7+/-12.6	0,3,4297	no	missense,missense,missense,missense	CIDEC	NM_001199551.1,NM_001199552.1,NM_001199623.1,NM_022094.3	29,29,29,29	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	152/249,142/239,155/252,142/239	9911695	3,13003	2203	4300	6503	SO:0001583	missense	63924				apoptosis|induction of apoptosis	cytosol|focal adhesion|nucleus		g.chr3:9911695C>T		CCDS2587.1, CCDS56239.1, CCDS74897.1	3p25	2004-07-26			ENSG00000187288	ENSG00000187288			24229	protein-coding gene	gene with protein product		612120				12429024	Standard	NM_001199623		Approved	CIDE-3, FLJ20871, Fsp27	uc021wsw.1	Q96AQ7	OTTHUMG00000128522	ENST00000336832.2:c.425G>A	3.37:g.9911695C>T	ENSP00000338642:p.Arg142His		Somatic				CIDEC_ENST00000423850.1_Missense_Mutation_p.R68H|CIDEC_ENST00000383817.1_Intron|CIDEC_ENST00000430427.1_Missense_Mutation_p.R152H|CIDEC_ENST00000455015.1_Missense_Mutation_p.R68H|CIDEC_ENST00000443115.1_Intron	p.R142H	NM_001199552.1|NM_001199623.1|NM_022094.3	NP_001186481.1|NP_001186552.1|NP_071377.2	WXS	Illumina GAIIx	Phase_I	Q96AQ7	CIDEC_HUMAN			5	564	-	Medulloblastoma(99;0.227)		142					C9JMN7|Q67DW9|Q9GZY9	Missense_Mutation	SNP	ENST00000336832.2	37	c.425G>A	CCDS2587.1	.	.	.	.	.	.	.	.	.	.	C	14.67	2.605513	0.46527	0.0	3.49E-4	ENSG00000187288	ENST00000336832;ENST00000455015;ENST00000423850;ENST00000430427	T;T;T;T	0.81163	-1.46;-1.46;-1.46;-1.46	6.07	3.18	0.36537	.	0.660749	0.16445	N	0.214102	T	0.79545	0.4464	M	0.69358	2.11	0.23132	N	0.99824	P;D	0.54207	0.909;0.965	B;P	0.45639	0.212;0.488	T	0.70601	-0.4827	10	0.56958	D	0.05	-0.9907	9.7132	0.40258	0.0:0.7234:0.1281:0.1485	.	142;152	Q96AQ7;C9JMN7	CIDEC_HUMAN;.	H	142;68;68;152	ENSP00000338642:R142H;ENSP00000392975:R68H;ENSP00000400649:R68H;ENSP00000408631:R152H	ENSP00000338642:R142H	R	-	2	0	CIDEC	9886695	0.889000	0.30405	0.384000	0.26145	0.907000	0.53573	1.772000	0.38552	0.912000	0.36772	0.655000	0.94253	CGT		0.488	CIDEC-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000250334.1	NM_022094		6	689	0	0	0	1	0	6	689				
SYBU	55638	broad.mit.edu	37	8	110631148	110631148	+	Missense_Mutation	SNP	G	G	A			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr8:110631148G>A	ENST00000422135.1	-	4	865	c.350C>T	c.(349-351)aCg>aTg	p.T117M	SYBU_ENST00000408889.3_De_novo_Start_InFrame|SYBU_ENST00000533065.1_De_novo_Start_InFrame|SYBU_ENST00000419099.1_Missense_Mutation_p.T116M|SYBU_ENST00000399066.3_Missense_Mutation_p.T114M|SYBU_ENST00000533895.1_Missense_Mutation_p.T116M|SYBU_ENST00000528647.1_Missense_Mutation_p.T116M|SYBU_ENST00000424158.2_Missense_Mutation_p.T122M|SYBU_ENST00000446070.2_Missense_Mutation_p.T116M|SYBU_ENST00000440310.1_Missense_Mutation_p.T117M|SYBU_ENST00000533171.1_Missense_Mutation_p.T117M|SYBU_ENST00000276646.9_Missense_Mutation_p.T117M|SYBU_ENST00000528331.1_De_novo_Start_InFrame|SYBU_ENST00000532779.1_Missense_Mutation_p.T49M|SYBU_ENST00000408908.2_Missense_Mutation_p.T117M|SYBU_ENST00000433638.1_Missense_Mutation_p.T117M	NM_001099744.1	NP_001093214.1	Q9NX95	SYBU_HUMAN	syntabulin (syntaxin-interacting)	117	Ser-rich.|Sufficient for interaction with KIF5B.				regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)	cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|dense body (GO:0097433)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				NS(1)|breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	30						CATTCCAATCGTGCATTTCTT	0.478																																						ENST00000399066.3																			0				NS(1)|breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	30						c.(340-342)aCg>aTg		syntabulin (syntaxin-interacting)							163.0	159.0	160.0					8																	110631148		1925	4140	6065	SO:0001583	missense	55638					cytoplasmic membrane-bounded vesicle|cytoskeleton|Golgi membrane|integral to membrane		g.chr8:110631148G>A	AB040905	CCDS43763.1, CCDS43764.1, CCDS47912.1, CCDS55271.1	8q23.2	2010-08-27				ENSG00000147642			26011	protein-coding gene	gene with protein product	"""syntaphilin-like"""	611568				17611281, 16750881, 16157705, 15656992, 15459722	Standard	NM_001099743		Approved	FLJ20366, GOLSYN, KIAA1472, OCSYN, SNPHL	uc003ynj.4	Q9NX95		ENST00000422135.1:c.350C>T	8.37:g.110631148G>A	ENSP00000407118:p.Thr117Met		Somatic				SYBU_ENST00000424158.2_Missense_Mutation_p.T122M|SYBU_ENST00000440310.1_Missense_Mutation_p.T117M|SYBU_ENST00000533171.1_Missense_Mutation_p.T117M|SYBU_ENST00000422135.1_Missense_Mutation_p.T117M|SYBU_ENST00000408908.2_Missense_Mutation_p.T117M|SYBU_ENST00000532779.1_Missense_Mutation_p.T49M|SYBU_ENST00000408889.3_De_novo_Start_InFrame|SYBU_ENST00000528331.1_De_novo_Start_InFrame|SYBU_ENST00000276646.9_Missense_Mutation_p.T117M|SYBU_ENST00000446070.2_Missense_Mutation_p.T116M|SYBU_ENST00000419099.1_Missense_Mutation_p.T116M|SYBU_ENST00000533065.1_De_novo_Start_InFrame|SYBU_ENST00000533895.1_Missense_Mutation_p.T116M|SYBU_ENST00000433638.1_Missense_Mutation_p.T117M|SYBU_ENST00000528647.1_Missense_Mutation_p.T116M	p.T114M	NM_001099756.1	NP_001093226.1	WXS	Illumina GAIIx	Phase_I	Q9NX95	SYBU_HUMAN			2	1068	-			117			Ser-rich.|Sufficient for interaction with KIF5B.		A8K354|B3KQX3|B3KU61|Q5R1T1|Q5R1T2|Q5R1T3|Q5Y2M6|Q8ND49|Q8TCR6|Q96D80|Q9P256	Missense_Mutation	SNP	ENST00000422135.1	37	c.341C>T	CCDS47912.1	.	.	.	.	.	.	.	.	.	.	G	16.87	3.240808	0.58995	.	.	ENSG00000147642	ENST00000533895;ENST00000424158;ENST00000532779;ENST00000399066;ENST00000446070;ENST00000276646;ENST00000528647;ENST00000422135;ENST00000419099;ENST00000433638;ENST00000408908;ENST00000440310;ENST00000533171;ENST00000529190;ENST00000533821;ENST00000534501;ENST00000524720	.	.	.	5.91	3.92	0.45320	.	0.250386	0.45361	D	0.000375	T	0.52933	0.1765	L	0.44542	1.39	0.44834	D	0.997842	D;D;D;D	0.63046	0.992;0.981;0.981;0.981	P;P;P;P	0.53861	0.736;0.528;0.454;0.578	T	0.54022	-0.8355	9	0.54805	T	0.06	-2.766	8.1806	0.31309	0.0:0.3628:0.3922:0.245	.	49;116;117;114	Q9NX95-2;Q9NX95-3;Q9NX95;Q9NX95-4	.;.;SYBU_HUMAN;.	M	116;122;49;114;116;117;116;117;116;117;117;117;117;116;116;117;117	.	ENSP00000276646:T117M	T	-	2	0	SYBU	110700324	0.767000	0.28508	0.773000	0.31616	0.901000	0.52897	1.027000	0.30115	1.459000	0.47892	0.655000	0.94253	ACG		0.478	SYBU-204	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000385501.1	NM_017786		7	362	0	0	0	1	0	7	362				
DDX42	11325	broad.mit.edu	37	17	61897195	61897195	+	IGR	SNP	A	A	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr17:61897195A>T	ENST00000578681.1	+	0	4337				FTSJ3_ENST00000427159.2_Silent_p.R837R	NM_007372.2	NP_031398.2	Q86XP3	DDX42_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 42						protein localization (GO:0008104)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)	46						TTTGTTCCTTACGTTGCTGTG	0.537																																						ENST00000427159.2																			0				breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						c.(2509-2511)cgT>cgA		FtsJ homolog 3 (E. coli)							301.0	257.0	272.0					17																	61897195		2203	4300	6503	SO:0001628	intergenic_variant	117246				RNA methylation|rRNA processing	nucleolus	methyltransferase activity|nucleic acid binding	g.chr17:61897195A>T	BC015505	CCDS32704.1	17q23	2014-02-14	2013-05-13			ENSG00000198231		"""DEAD-boxes"""	18676	protein-coding gene	gene with protein product	"""splicing factor 3b, subunit 8"""	613369	"""DEAD (Asp-Glu-Ala-Asp) box polypeptide 42"""			10727850, 16397294	Standard	NM_007372		Approved	RNAHP, RHELP, SF3b125, SF3B8	uc002jbv.3	Q86XP3			17.37:g.61897195A>T			Somatic					p.R837R	NM_017647.3	NP_060117.3	WXS	Illumina GAIIx	Phase_I	Q8IY81	RRMJ3_HUMAN			21	3156	-			837					A6NML1|A8KA43|O75619|Q68G51|Q96BK1|Q96HR7|Q9Y3V8	Silent	SNP	ENST00000578681.1	37	c.2511T>A	CCDS32704.1																																																																																				0.537	DDX42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444368.1	NM_007372		6	424	0	0	0	1	0	6	424				
DAXX	1616	broad.mit.edu	37	6	33287346	33287346	+	Missense_Mutation	SNP	G	G	A	rs371054058		TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr6:33287346G>A	ENST00000374542.5	-	6	1955	c.1751C>T	c.(1750-1752)aCg>aTg	p.T584M	ZBTB22_ENST00000431845.2_5'Flank|ZBTB22_ENST00000418724.1_5'Flank|DAXX_ENST00000266000.6_Missense_Mutation_p.T584M|DAXX_ENST00000414083.2_Missense_Mutation_p.T509M|DAXX_ENST00000477162.1_5'Flank	NM_001141969.1|NM_001141970.1|NM_001350.4	NP_001135441.1|NP_001135442.1|NP_001341.1	Q9UER7	DAXX_HUMAN	death-domain associated protein	584	Interaction with MAP3K5.				activation of JUN kinase activity (GO:0007257)|androgen receptor signaling pathway (GO:0030521)|apoptotic process (GO:0006915)|chromatin remodeling (GO:0006338)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|mitotic cytokinesis (GO:0000281)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of neuron death (GO:1901216)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein ubiquitination (GO:0031396)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|PML body (GO:0016605)|SWI/SNF superfamily-type complex (GO:0070603)	androgen receptor binding (GO:0050681)|enzyme binding (GO:0019899)|heat shock protein binding (GO:0031072)|histone binding (GO:0042393)|p53 binding (GO:0002039)|protein homodimerization activity (GO:0042803)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|receptor signaling protein activity (GO:0005057)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	55						GGAAATGTCCGTCTCCACAGA	0.532			"""Mis, F, N"""		Pancreatic neuroendocrine tumors. Paediatric GBM																																	ENST00000374542.5				Rec	yes		6	6p21.3	1616	"""Mis, F, N"""	death-domain associated protein			E			Pancreatic neuroendocrine tumors. Paediatric GBM		0				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	55						c.(1750-1752)aCg>aTg		death-domain associated protein		G	MET/THR,MET/THR,MET/THR	0,4406		0,0,2203	81.0	84.0	83.0		1751,1787,1751	-0.7	0.0	6		83	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	DAXX	NM_001350.4,NM_001141970.1,NM_001141969.1	81,81,81	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign,benign	584/741,596/753,584/741	33287346	1,13005	2203	4300	6503	SO:0001583	missense	1616				activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent	chromosome, centromeric region|cytosol|nucleolus|PML body	androgen receptor binding|heat shock protein binding|p53 binding|protein homodimerization activity|protein N-terminus binding|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding	g.chr6:33287346G>A	AF006041	CCDS4776.1, CCDS59008.1	6p21.3	2008-08-29	2008-08-29			ENSG00000204209			2681	protein-coding gene	gene with protein product		603186	"""death-associated protein 6"""			9407001, 9215629	Standard	NM_001141970		Approved	DAP6	uc011dre.2	Q9UER7		ENST00000374542.5:c.1751C>T	6.37:g.33287346G>A	ENSP00000363668:p.Thr584Met		Somatic				DAXX_ENST00000266000.6_Missense_Mutation_p.T584M|DAXX_ENST00000414083.2_Missense_Mutation_p.T509M	p.T584M	NM_001141969.1|NM_001141970.1|NM_001350.4	NP_001135441.1|NP_001135442.1|NP_001341.1	WXS	Illumina GAIIx	Phase_I	Q9UER7	DAXX_HUMAN			6	1955	-			584			Interaction with MAP3K5.		B4E1I3|F5H082|O14747|O15141|O15208|Q5STK9|Q9BWI3	Missense_Mutation	SNP	ENST00000374542.5	37	c.1751C>T	CCDS4776.1	.	.	.	.	.	.	.	.	.	.	G	3.186	-0.166949	0.06461	0.0	1.16E-4	ENSG00000204209	ENST00000266000;ENST00000374542;ENST00000414083	.	.	.	4.44	-0.686	0.11324	.	0.839641	0.10851	N	0.627178	T	0.05227	0.0139	N	0.08118	0	0.09310	N	1	B;B	0.12630	0.002;0.006	B;B	0.06405	0.002;0.002	T	0.37663	-0.9696	9	0.41790	T	0.15	0.0036	4.6396	0.12541	0.1954:0.2467:0.4739:0.084	.	596;584	B4E1C1;Q9UER7	.;DAXX_HUMAN	M	584;584;509	.	ENSP00000266000:T584M	T	-	2	0	DAXX	33395324	0.000000	0.05858	0.005000	0.12908	0.014000	0.08584	-0.179000	0.09768	-0.716000	0.04962	-2.146000	0.00336	ACG		0.532	DAXX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076403.1			4	122	0	0	0	1	0	4	122				
PREX2	80243	broad.mit.edu	37	8	68973015	68973015	+	Splice_Site	SNP	G	G	A			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr8:68973015G>A	ENST00000288368.4	+	11	1616		c.e11+1		PREX2_ENST00000529398.1_Splice_Site	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2						adult locomotory behavior (GO:0008344)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of Rac GTPase activity (GO:0032855)		Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						ATTCACCATGGTAATTACTTT	0.343																																						ENST00000288368.4																			0				NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						c.e11+1		phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2							69.0	73.0	72.0					8																	68973015		2203	4300	6503	SO:0001630	splice_region_variant	80243				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity	g.chr8:68973015G>A	AK024079	CCDS6201.1	8q13.1	2014-06-13	2008-09-15	2008-09-15	ENSG00000046889	ENSG00000046889		"""Rho guanine nucleotide exchange factors"""	22950	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 129"""	612139	"""DEP domain containing 2"""	DEPDC2		15304342, 15304343	Standard	NM_024870		Approved	DEP.2, FLJ12987, P-REX2, PPP1R129	uc003xxv.1	Q70Z35	OTTHUMG00000164402	ENST00000288368.4:c.1339+1G>A	8.37:g.68973015G>A			Somatic				PREX2_ENST00000529398.1_Splice_Site		NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	WXS	Illumina GAIIx	Phase_I	Q70Z35	PREX2_HUMAN			11	1616	+								B4DFX0|Q32KL0|Q32KL1|Q6R7Q3|Q6R7Q4|Q9H805|Q9H961	Splice_Site	SNP	ENST00000288368.4	37		CCDS6201.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.843193	0.91197	.	.	ENSG00000046889	ENST00000288368;ENST00000396539;ENST00000354677	.	.	.	5.69	5.69	0.88448	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.817	0.96573	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PREX2	69135569	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	9.869000	0.99810	2.678000	0.91216	0.655000	0.94253	.		0.343	PREX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378620.1	NM_025170	Intron	3	91	0	0	0	1	0	3	91				
MMP19	4327	broad.mit.edu	37	12	56230903	56230903	+	Missense_Mutation	SNP	A	A	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr12:56230903A>T	ENST00000322569.4	-	9	1535	c.1444T>A	c.(1444-1446)Tca>Aca	p.S482T	MMP19_ENST00000409200.3_3'UTR|MMP19_ENST00000394182.1_Missense_Mutation_p.S196T|TMEM198B_ENST00000478241.1_RNA|MMP19_ENST00000548629.1_Missense_Mutation_p.S459T	NM_002429.4	NP_002420.1	Q99542	MMP19_HUMAN	matrix metallopeptidase 19	482					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|luteolysis (GO:0001554)|ovarian follicle development (GO:0001541)|ovulation from ovarian follicle (GO:0001542)|proteolysis (GO:0006508)|response to cAMP (GO:0051591)|response to hormone (GO:0009725)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	26					Marimastat(DB00786)	TTCCCACCTGATGGGGTAGTG	0.522																																						ENST00000394182.1																			0				endometrium(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	26						c.(586-588)Tca>Aca		matrix metallopeptidase 19							248.0	245.0	246.0					12																	56230903		2203	4300	6503	SO:0001583	missense	4327				angiogenesis|cell differentiation|collagen catabolic process|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr12:56230903A>T	X92521	CCDS8895.1, CCDS61146.1	12q14	2005-08-08	2005-08-08			ENSG00000123342			7165	protein-coding gene	gene with protein product		601807	"""matrix metalloproteinase 19"""	MMP18		9232430	Standard	NM_002429		Approved	RASI-1	uc001sib.4	Q99542	OTTHUMG00000170216	ENST00000322569.4:c.1444T>A	12.37:g.56230903A>T	ENSP00000313437:p.Ser482Thr		Somatic				MMP19_ENST00000548629.1_Missense_Mutation_p.S459T|MMP19_ENST00000409200.3_3'UTR|MMP19_ENST00000322569.4_Missense_Mutation_p.S482T	p.S196T			WXS	Illumina GAIIx	Phase_I	Q99542	MMP19_HUMAN			4	585	-			482					B4E030|O15278|O95606|Q99580	Missense_Mutation	SNP	ENST00000322569.4	37	c.586T>A	CCDS8895.1	.	.	.	.	.	.	.	.	.	.	A	10.82	1.458261	0.26161	.	.	ENSG00000123342	ENST00000394182;ENST00000322569;ENST00000548629	T;T;T	0.17213	4.55;2.46;2.29	5.71	-1.72	0.08107	.	1.775360	0.02935	N	0.139662	T	0.09379	0.0231	N	0.24115	0.695	0.09310	N	1	B;B	0.10296	0.001;0.003	B;B	0.12156	0.001;0.007	T	0.19549	-1.0302	10	0.12766	T	0.61	.	1.2218	0.01925	0.4167:0.284:0.1617:0.1376	.	482;196	Q99542;Q99542-3	MMP19_HUMAN;.	T	196;482;459	ENSP00000377736:S196T;ENSP00000313437:S482T;ENSP00000446979:S459T	ENSP00000313437:S482T	S	-	1	0	MMP19	54517170	0.001000	0.12720	0.000000	0.03702	0.015000	0.08874	0.380000	0.20602	-0.178000	0.10672	0.459000	0.35465	TCA		0.522	MMP19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408023.1	NM_002429		5	556	0	0	0	1	0	5	556				
ARNT	405	broad.mit.edu	37	1	150804293	150804293	+	Splice_Site	SNP	C	C	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr1:150804293C>T	ENST00000358595.5	-	10	1156		c.e10+1		ARNT_ENST00000505755.1_Splice_Site|ARNT_ENST00000354396.2_Splice_Site|ARNT_ENST00000468970.1_5'UTR|ARNT_ENST00000515192.1_Splice_Site	NM_001197325.1|NM_001668.3|NM_178427.2	NP_001184254.1|NP_001659.1|NP_848514.1	P27540	ARNT_HUMAN	aryl hydrocarbon receptor nuclear translocator						cell differentiation (GO:0030154)|cellular response to hypoxia (GO:0071456)|embryonic placenta development (GO:0001892)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of glycolytic process (GO:0045821)|positive regulation of hormone biosynthetic process (GO:0046886)|positive regulation of protein sumoylation (GO:0033235)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	aryl hydrocarbon receptor activity (GO:0004874)|aryl hydrocarbon receptor binding (GO:0017162)|enhancer binding (GO:0035326)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|prostate(2)|skin(4)|stomach(1)	34	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.02)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211)			CACTTTCTTACCTGCTGGGGG	0.438			T	ETV6	AML																																	ENST00000358595.5				Dom	yes		1	1q21	405	T	aryl hydrocarbon receptor nuclear translocator			L	ETV6		AML		0				central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|prostate(2)|skin(4)|stomach(1)	34						c.e10+1		aryl hydrocarbon receptor nuclear translocator							58.0	60.0	59.0					1																	150804293		2203	4300	6503	SO:0001630	splice_region_variant	405				positive regulation of hormone biosynthetic process|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|response to hypoxia		aryl hydrocarbon receptor binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity	g.chr1:150804293C>T	AF001307	CCDS970.1, CCDS971.1, CCDS65641.1, CCDS65642.1	1q21	2013-05-21			ENSG00000143437	ENSG00000143437		"""Basic helix-loop-helix proteins"""	700	protein-coding gene	gene with protein product		126110					Standard	NM_001668		Approved	HIF-1beta, bHLHe2	uc001evr.2	P27540	OTTHUMG00000035011	ENST00000358595.5:c.955+1G>A	1.37:g.150804293C>T			Somatic				ARNT_ENST00000354396.2_Splice_Site|ARNT_ENST00000505755.1_Splice_Site|ARNT_ENST00000515192.1_Splice_Site|ARNT_ENST00000468970.1_5'UTR		NM_001197325.1|NM_001668.3|NM_178427.2	NP_001184254.1|NP_001659.1|NP_848514.1	WXS	Illumina GAIIx	Phase_I	P27540	ARNT_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.02)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211)		10	1156	-	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)							B2R9H1|C4AMA1|F8WAP6|Q59ED4|Q5QP39|Q8NDC7	Splice_Site	SNP	ENST00000358595.5	37		CCDS970.1	.	.	.	.	.	.	.	.	.	.	C	18.03	3.533461	0.64972	.	.	ENSG00000143437	ENST00000358595;ENST00000368975;ENST00000354396;ENST00000515192;ENST00000394700;ENST00000505755	.	.	.	5.0	5.0	0.66597	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.2947	0.90141	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ARNT	149070917	1.000000	0.71417	1.000000	0.80357	0.756000	0.42949	5.627000	0.67784	2.289000	0.77006	0.557000	0.71058	.		0.438	ARNT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000084741.2		Intron	4	36	0	0	0	1	0	4	36				
MAX	4149	broad.mit.edu	37	14	65544756	65544756	+	Splice_Site	SNP	T	T	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr14:65544756T>C	ENST00000358664.4	-	4	302		c.e4-2		MAX_ENST00000341653.2_Intron|MAX_ENST00000557277.1_Splice_Site|MAX_ENST00000557746.1_Splice_Site|MAX_ENST00000555667.1_Splice_Site|MAX_ENST00000555932.1_Intron|MAX_ENST00000556443.1_Splice_Site|MAX_ENST00000284165.6_Splice_Site|MAX_ENST00000555419.1_Splice_Site|MAX_ENST00000358402.4_Splice_Site|MAX_ENST00000556979.1_Splice_Site	NM_002382.4	NP_002373.3	P61244	MAX_HUMAN	MYC associated factor X						cellular response to peptide hormone stimulus (GO:0071375)|cellular response to starvation (GO:0009267)|negative regulation of gene expression (GO:0010629)|neuron apoptotic process (GO:0051402)|protein complex assembly (GO:0006461)|response to axon injury (GO:0048678)|response to insulin (GO:0032868)|retina development in camera-type eye (GO:0060041)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)|PML body (GO:0016605)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	17				all cancers(60;0.000776)|OV - Ovarian serous cystadenocarcinoma(108;0.00359)|BRCA - Breast invasive adenocarcinoma(234;0.00999)		CCGGGATGCCTGTGGCAATAT	0.498																																						ENST00000284165.6																			0				breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	17						c.e4-2		MYC associated factor X							91.0	80.0	84.0					14																	65544756		2203	4300	6503	SO:0001630	splice_region_variant	4149				transcription from RNA polymerase II promoter	cytoplasm|MLL1 complex	sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr14:65544756T>C		CCDS9770.1, CCDS9771.1, CCDS9772.1, CCDS9774.1, CCDS41965.1	14q23	2014-09-17	2005-02-08		ENSG00000125952	ENSG00000125952		"""Basic helix-loop-helix proteins"""	6913	protein-coding gene	gene with protein product		154950	"""MAX protein"""			1557420	Standard	NM_002382		Approved	bHLHd4, bHLHd5, bHLHd6, bHLHd7, bHLHd8	uc001xif.2	P61244	OTTHUMG00000142809	ENST00000358664.4:c.172-2A>G	14.37:g.65544756T>C			Somatic				MAX_ENST00000358402.4_Splice_Site|MAX_ENST00000556443.1_Splice_Site|MAX_ENST00000555932.1_Intron|MAX_ENST00000341653.2_Intron|MAX_ENST00000556979.1_Splice_Site|MAX_ENST00000358664.4_Splice_Site|MAX_ENST00000555667.1_Splice_Site|MAX_ENST00000557277.1_Splice_Site|MAX_ENST00000555419.1_Splice_Site|MAX_ENST00000557746.1_Splice_Site		NM_145113.1	NP_660088.1	WXS	Illumina GAIIx	Phase_I	P61244	MAX_HUMAN		all cancers(60;0.000776)|OV - Ovarian serous cystadenocarcinoma(108;0.00359)|BRCA - Breast invasive adenocarcinoma(234;0.00999)	4	320	-								A6NH73|A8K265|A8K4G4|A8K824|P25912|P52163|Q14803|Q96CY8	Splice_Site	SNP	ENST00000358664.4	37		CCDS9771.1	.	.	.	.	.	.	.	.	.	.	T	16.76	3.212460	0.58452	.	.	ENSG00000125952	ENST00000358402;ENST00000284165;ENST00000358664;ENST00000555419;ENST00000441116;ENST00000556979;ENST00000555667;ENST00000557746;ENST00000556443	.	.	.	5.18	5.18	0.71444	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.0085	0.64481	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	MAX	64614509	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.947000	0.87758	1.932000	0.55993	0.460000	0.39030	.		0.498	MAX-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286386.1	NM_197957	Intron	15	68	0	0	0	1	0	15	68				
MUC16	94025	broad.mit.edu	37	19	8999035	8999035	+	Silent	SNP	G	G	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr19:8999035G>C	ENST00000397910.4	-	57	41012	c.40809C>G	c.(40807-40809)ccC>ccG	p.P13603P	MUC16_ENST00000380951.5_Silent_p.P244P	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13605				Missing (in Ref. 3; AAK74120). {ECO:0000305}.	cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGCTAGTGGTGGGCACAGAGC	0.542																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(40807-40809)ccC>ccG		mucin 16, cell surface associated							67.0	67.0	67.0					19																	8999035		1992	4157	6149	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:8999035G>C	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.40809C>G	19.37:g.8999035G>C			Somatic				MUC16_ENST00000380951.5_Silent_p.P244P	p.P13603P	NM_024690.2	NP_078966.2	WXS	Illumina GAIIx	Phase_I	Q8WXI7	MUC16_HUMAN			57	41012	-			13605	Missing (in Ref. 3; AAK74120).				Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.40809C>G	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	.	1.463	-0.561970	0.03939	.	.	ENSG00000181143	ENST00000542240	.	.	.	1.04	1.04	0.20106	.	.	.	.	.	T	0.41789	0.1174	.	.	.	.	.	.	.	.	.	.	.	.	T	0.50625	-0.8806	4	0.45353	T	0.12	.	5.4159	0.16374	0.0:0.0:1.0:0.0	.	.	.	.	R	443	.	ENSP00000370334:P443R	P	-	2	0	MUC16	8860035	0.002000	0.14202	0.004000	0.12327	0.010000	0.07245	0.377000	0.20552	0.865000	0.35603	0.455000	0.32223	CCA		0.542	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		6	153	0	0	0	1	0	6	153				
MAP2	4133	broad.mit.edu	37	2	210560726	210560726	+	Missense_Mutation	SNP	A	A	G			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr2:210560726A>G	ENST00000360351.4	+	7	4338	c.3832A>G	c.(3832-3834)Aaa>Gaa	p.K1278E	MAP2_ENST00000447185.1_Missense_Mutation_p.K1274E|MAP2_ENST00000199940.6_Intron|MAP2_ENST00000361559.4_Intron|MAP2_ENST00000392194.1_Intron	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2	1278					axonogenesis (GO:0007409)|cellular response to organic substance (GO:0071310)|central nervous system neuron development (GO:0021954)|dendrite morphogenesis (GO:0048813)|microtubule bundle formation (GO:0001578)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|nuclear periphery (GO:0034399)	dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Docetaxel(DB01248)|Estramustine(DB01196)|Paclitaxel(DB01229)	AAGTGAACACAAAGGAGTGAT	0.498																																					Pancreas(27;423 979 28787 29963)	ENST00000360351.4																			0				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124						c.(3832-3834)Aaa>Gaa		microtubule-associated protein 2	Estramustine(DB01196)						147.0	146.0	146.0					2																	210560726		2203	4300	6503	SO:0001583	missense	4133				central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity	g.chr2:210560726A>G		CCDS2384.1, CCDS2385.1, CCDS33369.1	2q34-q35	2008-05-27			ENSG00000078018	ENSG00000078018		"""A-kinase anchor proteins"""	6839	protein-coding gene	gene with protein product		157130				3103857, 7479905	Standard	XM_005246554		Approved	MAP2A, MAP2B, MAP2C	uc002vde.1	P11137	OTTHUMG00000132962	ENST00000360351.4:c.3832A>G	2.37:g.210560726A>G	ENSP00000353508:p.Lys1278Glu		Somatic				MAP2_ENST00000392194.1_Intron|MAP2_ENST00000199940.6_Intron|MAP2_ENST00000361559.4_Intron|MAP2_ENST00000447185.1_Missense_Mutation_p.K1274E	p.K1278E	NM_002374.3	NP_002365.3	WXS	Illumina GAIIx	Phase_I	P11137	MAP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	7	4338	+		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)	1278					Q17S04|Q8IUX2|Q99975|Q99976	Missense_Mutation	SNP	ENST00000360351.4	37	c.3832A>G	CCDS2384.1	.	.	.	.	.	.	.	.	.	.	A	14.93	2.681037	0.47886	.	.	ENSG00000078018	ENST00000360351;ENST00000447185	T;T	0.25085	1.82;1.82	5.6	5.6	0.85130	MAP2/Tau projection (1);	0.094242	0.46145	D	0.000313	T	0.44244	0.1284	L	0.56769	1.78	0.29989	N	0.817013	D;D	0.76494	0.998;0.999	D;D	0.80764	0.994;0.989	T	0.46373	-0.9196	10	0.48119	T	0.1	-20.1468	10.1789	0.42955	0.9257:0.0:0.0743:0.0	.	1274;1278	P11137-3;P11137	.;MAP2_HUMAN	E	1278;1274	ENSP00000353508:K1278E;ENSP00000392164:K1274E	ENSP00000353508:K1278E	K	+	1	0	MAP2	210268971	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	3.853000	0.55941	2.141000	0.66446	0.455000	0.32223	AAA		0.498	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256521.2	NM_001039538		21	181	0	0	0	1	0	21	181				
MT-CO1	4512	broad.mit.edu	37	M	3244	3244	+	5'Flank	SNP	G	G	A			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chrM:3244G>A	ENST00000361624.2	+	0	0				MT-TV_ENST00000387342.1_RNA|MT-TN_ENST00000387400.1_RNA|MT-TY_ENST00000387409.1_RNA|MT-TQ_ENST00000387372.1_RNA|MT-TL1_ENST00000386347.1_RNA|MT-TM_ENST00000387377.1_RNA|MT-ND2_ENST00000361453.3_5'Flank|MT-RNR1_ENST00000389680.2_RNA|MT-TI_ENST00000387365.1_RNA|MT-ND1_ENST00000361390.2_5'Flank|MT-TA_ENST00000387392.1_RNA|MT-RNR2_ENST00000387347.2_RNA|MT-TW_ENST00000387382.1_RNA|MT-TC_ENST00000387405.1_RNA|MT-TF_ENST00000387314.1_RNA			P00395	COX1_HUMAN	mitochondrially encoded cytochrome c oxidase I						aerobic respiration (GO:0009060)|cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|oxidative phosphorylation (GO:0006119)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex IV (GO:0005751)|respiratory chain complex IV (GO:0045277)	cytochrome-c oxidase activity (GO:0004129)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(4)|endometrium(25)|kidney(19)|lung(3)|prostate(3)	54						aagatggcagagcccggtaat	0.438																																						ENST00000386347.1																			0																																																	SO:0001631	upstream_gene_variant	0							g.chrM:3244G>A			mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198804	ENSG00000198804		"""Mitochondrial respiratory chain complex / Complex IV"""	7419	protein-coding gene	gene with protein product		516030	"""cytochrome c oxidase I"""	MTCO1		7219534	Standard			Approved	COX1, COI		P00395			M.37:g.3244G>A	Exception_encountered		Somatic								WXS	Illumina GAIIx	Phase_I					0	15	+								Q34770	RNA	SNP	ENST00000361624.2	37																																																																																						0.438	MT-CO1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024028		11	3	0	0	0	1	0	11	3				
LARP1B	55132	broad.mit.edu	37	4	129098058	129098058	+	Silent	SNP	G	G	A			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr4:129098058G>A	ENST00000326639.6	+	13	1891	c.1680G>A	c.(1678-1680)aaG>aaA	p.K560K	LARP1B_ENST00000264584.5_Intron|LARP1B_ENST00000441387.1_Silent_p.K560K|LARP1B_ENST00000354456.3_5'UTR	NM_018078.2	NP_060548.2	Q659C4	LAR1B_HUMAN	La ribonucleoprotein domain family, member 1B	560						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(11)|ovary(1)|prostate(3)	34						acattcccaagaaaggtaaca	0.393																																						ENST00000326639.6																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(11)|ovary(1)|prostate(3)	34						c.(1678-1680)aaG>aaA		La ribonucleoprotein domain family, member 1B							118.0	113.0	115.0					4																	129098058		2203	4300	6503	SO:0001819	synonymous_variant	55132						RNA binding	g.chr4:129098058G>A		CCDS3738.1, CCDS47133.1, CCDS64057.1	4q28.2	2009-06-09	2009-06-09	2009-06-09	ENSG00000138709	ENSG00000138709		"""La ribonucleoprotein domain containing"""	24704	protein-coding gene	gene with protein product			"""La ribonucleoprotein domain family, member 2"""	LARP2		12045101	Standard	NM_018078		Approved	FLJ10378, DKFZp434K245, DKFZp686E0316	uc003iga.3	Q659C4	OTTHUMG00000133343	ENST00000326639.6:c.1680G>A	4.37:g.129098058G>A			Somatic				LARP1B_ENST00000441387.1_Silent_p.K560K|LARP1B_ENST00000264584.5_Intron|LARP1B_ENST00000354456.3_5'UTR	p.K560K	NM_018078.2	NP_060548.2	WXS	Illumina GAIIx	Phase_I	Q659C4	LAR1B_HUMAN			13	1891	+			560					Q2YDB6|Q4W599|Q4W5B2|Q659A0|Q6P5X2|Q7Z3F7|Q86VK7|Q8N6F4|Q8N7H4|Q8NAF2|Q9H5E7|Q9NW12	Silent	SNP	ENST00000326639.6	37	c.1680G>A	CCDS3738.1																																																																																				0.393	LARP1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257173.2	NM_018078		6	102	0	0	0	1	0	6	102				
TLR7	51284	broad.mit.edu	37	X	12885598	12885598	+	Splice_Site	SNP	A	A	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chrX:12885598A>T	ENST00000380659.3	+	2	41		c.e2-1		TLR7_ENST00000484204.1_3'UTR	NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN	toll-like receptor 7						cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of chemokine production (GO:0032722)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|toll-like receptor 7 signaling pathway (GO:0034154)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	cytoplasm (GO:0005737)|early phagosome (GO:0032009)|endolysosome membrane (GO:0036020)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	double-stranded RNA binding (GO:0003725)|drug binding (GO:0008144)|single-stranded RNA binding (GO:0003727)|siRNA binding (GO:0035197)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Hydroxychloroquine(DB01611)|Imiquimod(DB00724)	TCTTTCTCTTAGTTGATGCTA	0.388																																						ENST00000380659.3																			0				NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44						c.e2-1		toll-like receptor 7	Imiquimod(DB00724)																																			SO:0001630	splice_region_variant	51284				cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity	g.chrX:12885598A>T	AF240467	CCDS14151.1	Xp22.3	2008-02-05			ENSG00000196664	ENSG00000196664			15631	protein-coding gene	gene with protein product		300365				11022119	Standard	NM_016562		Approved		uc004cvc.3	Q9NYK1	OTTHUMG00000021137	ENST00000380659.3:c.-98-1A>T	X.37:g.12885598A>T			Somatic				TLR7_ENST00000484204.1_3'UTR		NM_016562.3	NP_057646.1	WXS	Illumina GAIIx	Phase_I	Q9NYK1	TLR7_HUMAN			2	41	+								D1CS69|Q9NR98	Splice_Site	SNP	ENST00000380659.3	37		CCDS14151.1																																																																																				0.388	TLR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055769.1	NM_016562	Intron	5	279	0	0	0	1	0	5	279				
ADAMTS3	9508	broad.mit.edu	37	4	73414294	73414294	+	Silent	SNP	T	T	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr4:73414294T>C	ENST00000286657.4	-	3	441	c.405A>G	c.(403-405)agA>agG	p.R135R	ADAMTS3_ENST00000505193.1_5'UTR	NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	135					collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix organization (GO:0030198)|positive regulation of vascular endothelial growth factor signaling pathway (GO:1900748)|protein processing (GO:0016485)|vascular endothelial growth factor production (GO:0010573)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TTCTCCGGATTCTATACGTAG	0.498																																					NSCLC(168;1941 2048 2918 13048 43078)	ENST00000286657.4																			0				NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76						c.(403-405)agA>agG		ADAM metallopeptidase with thrombospondin type 1 motif, 3							224.0	221.0	222.0					4																	73414294		2203	4300	6503	SO:0001819	synonymous_variant	9508				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding	g.chr4:73414294T>C	AB002364	CCDS3553.1	4q21	2008-07-29	2005-08-19		ENSG00000156140	ENSG00000156140	3.4.24.-	"""ADAM metallopeptidases with thrombospondin type 1 motif"""	219	protein-coding gene	gene with protein product		605011	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 3"""			10094461	Standard	NM_014243		Approved	KIAA0366, ADAMTS-4	uc003hgk.2	O15072	OTTHUMG00000129912	ENST00000286657.4:c.405A>G	4.37:g.73414294T>C			Somatic				ADAMTS3_ENST00000505193.1_5'UTR	p.R135R	NM_014243.2	NP_055058.2	WXS	Illumina GAIIx	Phase_I	O15072	ATS3_HUMAN	Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		3	441	-			135					A1L3U9|Q9BXZ8	Silent	SNP	ENST00000286657.4	37	c.405A>G	CCDS3553.1																																																																																				0.498	ADAMTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252164.2			5	279	0	0	0	1	0	5	279				
ARHGEF2	9181	broad.mit.edu	37	1	155931573	155931573	+	Missense_Mutation	SNP	C	C	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr1:155931573C>T	ENST00000361247.4	-	11	1446	c.1347G>A	c.(1345-1347)atG>atA	p.M449I	ARHGEF2_ENST00000477754.2_Intron|ARHGEF2_ENST00000462460.2_Missense_Mutation_p.M494I|ARHGEF2_ENST00000313695.7_Missense_Mutation_p.M421I|ARHGEF2_ENST00000368316.1_Missense_Mutation_p.M421I|ARHGEF2_ENST00000313667.4_Missense_Mutation_p.M448I|ARHGEF2_ENST00000368315.4_Missense_Mutation_p.M450I	NM_001162383.1|NM_001162384.1	NP_001155855.1|NP_001155856.1	Q92974	ARHG2_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 2	449					actin filament organization (GO:0007015)|apoptotic signaling pathway (GO:0097190)|cell morphogenesis (GO:0000902)|cellular hyperosmotic response (GO:0071474)|cellular response to muramyl dipeptide (GO:0071225)|cellular response to tumor necrosis factor (GO:0071356)|establishment of mitotic spindle orientation (GO:0000132)|innate immune response (GO:0045087)|intracellular protein transport (GO:0006886)|mitotic nuclear division (GO:0007067)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of intrinsic apoptotic signaling pathway in response to osmotic stress (GO:1902219)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of necroptotic process (GO:0060546)|negative regulation of neurogenesis (GO:0050768)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cell proliferation (GO:0042127)|regulation of Rho protein signal transduction (GO:0035023)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)|vesicle (GO:0031982)	microtubule binding (GO:0008017)|Rac GTPase binding (GO:0048365)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho GTPase binding (GO:0017048)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2)	40	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					CCCGAGGGTCCATGCGGTTGT	0.597																																					Melanoma(178;35 2768 6610 28839)	ENST00000368316.1																			0				breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2)	40						c.(1261-1263)atG>atA		Rho/Rac guanine nucleotide exchange factor (GEF) 2							69.0	69.0	69.0					1																	155931573		2203	4300	6503	SO:0001583	missense	9181				actin filament organization|apoptosis|cell division|cell morphogenesis|induction of apoptosis by extracellular signals|intracellular protein transport|mitosis|negative regulation of microtubule depolymerization|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|regulation of cell proliferation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|Golgi apparatus|microtubule|ruffle membrane|spindle|tight junction	microtubule binding|Rac GTPase binding|Rac guanyl-nucleotide exchange factor activity|zinc ion binding	g.chr1:155931573C>T	AB014551	CCDS1125.1, CCDS53375.1, CCDS53376.1	1q21-q22	2013-01-10	2009-06-12		ENSG00000116584	ENSG00000116584		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	682	protein-coding gene	gene with protein product		607560	"""rho/rac guanine nucleotide exchange factor (GEF) 2"""			9857026, 9734811	Standard	NM_004723		Approved	LFP40, GEF-H1, KIAA0651, P40	uc001fmt.2	Q92974	OTTHUMG00000017464	ENST00000361247.4:c.1347G>A	1.37:g.155931573C>T	ENSP00000354837:p.Met449Ile		Somatic				ARHGEF2_ENST00000361247.4_Missense_Mutation_p.M449I|ARHGEF2_ENST00000313667.4_Missense_Mutation_p.M448I|ARHGEF2_ENST00000313695.7_Missense_Mutation_p.M421I|ARHGEF2_ENST00000368315.3_Missense_Mutation_p.M450I	p.M421I			WXS	Illumina GAIIx	Phase_I	Q92974	ARHG2_HUMAN			15	1733	-	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		449			DH.		D3DVA6|O75142|Q15079|Q5VY92|Q8TDA3|Q8WUG4|Q9H023	Missense_Mutation	SNP	ENST00000361247.4	37	c.1263G>A	CCDS53376.1	.	.	.	.	.	.	.	.	.	.	C	5.175	0.217806	0.09810	.	.	ENSG00000116584	ENST00000313695;ENST00000361247;ENST00000368315;ENST00000368316;ENST00000313667	T;T;T;T;T	0.61392	0.11;0.11;0.11;0.11;0.11	4.95	4.03	0.46877	Dbl homology (DH) domain (1);	0.117439	0.39909	N	0.001225	T	0.21062	0.0507	L	0.29908	0.895	0.38980	D	0.958935	B;B;B	0.09022	0.002;0.0;0.0	B;B;B	0.12156	0.003;0.001;0.007	T	0.11446	-1.0587	10	0.12430	T	0.62	-31.5755	5.7526	0.18154	0.1944:0.7095:0.0:0.0961	.	493;449;448	D3DVA5;Q92974;Q92974-2	.;ARHG2_HUMAN;.	I	421;449;450;421;448	ENSP00000315325:M421I;ENSP00000354837:M449I;ENSP00000357298:M450I;ENSP00000357299:M421I;ENSP00000314787:M448I	ENSP00000314787:M448I	M	-	3	0	ARHGEF2	154198197	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.575000	0.36493	2.724000	0.93272	0.655000	0.94253	ATG		0.597	ARHGEF2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046204.2	NM_004723		25	59	0	0	0	1	0	25	59				
DTL	51514	broad.mit.edu	37	1	212273684	212273684	+	Missense_Mutation	SNP	C	C	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr1:212273684C>T	ENST00000366991.4	+	14	1666	c.1352C>T	c.(1351-1353)gCc>gTc	p.A451V	DTL_ENST00000475419.1_3'UTR|DTL_ENST00000542077.1_Missense_Mutation_p.A409V|RN7SKP98_ENST00000517070.1_RNA	NM_016448.2	NP_057532.2	Q9NZJ0	DTL_HUMAN	denticleless E3 ubiquitin protein ligase homolog (Drosophila)	451					cellular response to DNA damage stimulus (GO:0006974)|DNA replication (GO:0006260)|G2 DNA damage checkpoint (GO:0031572)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|regulation of cell cycle (GO:0051726)|response to UV (GO:0009411)|translesion synthesis (GO:0019985)|ubiquitin-dependent protein catabolic process (GO:0006511)	centrosome (GO:0005813)|chromosome (GO:0005694)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(81;0.00796)|all cancers(67;0.0385)|Epithelial(68;0.102)		GCAGCTTGTGCCCCAAGCTGT	0.522																																						ENST00000366991.4																			0				breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						c.(1351-1353)gCc>gTc		denticleless E3 ubiquitin protein ligase homolog (Drosophila)							108.0	110.0	109.0					1																	212273684		2203	4300	6503	SO:0001583	missense	51514				DNA replication|G2/M transition DNA damage checkpoint|protein monoubiquitination|protein polyubiquitination|response to UV|translesion synthesis|ubiquitin-dependent protein catabolic process	centrosome|Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|nuclear membrane	protein binding	g.chr1:212273684C>T	AF195765	CCDS1502.1, CCDS65778.1	1q32	2013-01-10	2012-02-23		ENSG00000143476	ENSG00000143476		"""DDB1 and CUL4 associated factors"", ""WD repeat domain containing"""	30288	protein-coding gene	gene with protein product	"""RA regulated nuclear matrix associated protein"", ""DDB1 and CUL4 associated factor 2"""	610617	"""denticleless homolog (Drosophila)"""			11278750	Standard	NM_001286229		Approved	RAMP, L2DTL, DCAF2	uc009xdc.3	Q9NZJ0	OTTHUMG00000037133	ENST00000366991.4:c.1352C>T	1.37:g.212273684C>T	ENSP00000355958:p.Ala451Val		Somatic				DTL_ENST00000542077.1_Missense_Mutation_p.A409V|DTL_ENST00000475419.1_3'UTR	p.A451V	NM_016448.2	NP_057532.2	WXS	Illumina GAIIx	Phase_I	Q9NZJ0	DTL_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00796)|all cancers(67;0.0385)|Epithelial(68;0.102)	14	1666	+			451					A8K8H8|D3DT98|Q5VT77|Q96SN0|Q9NW03|Q9NW34|Q9NWM5	Missense_Mutation	SNP	ENST00000366991.4	37	c.1352C>T	CCDS1502.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.791251	0.90367	.	.	ENSG00000143476	ENST00000366991;ENST00000542077;ENST00000420235	T;T	0.73469	-0.68;-0.75	5.54	5.54	0.83059	.	0.162937	0.53938	D	0.000049	T	0.81356	0.4805	L	0.52573	1.65	0.52099	D	0.999948	D;D;D	0.56968	0.978;0.963;0.963	P;P;P	0.56751	0.805;0.664;0.643	T	0.81686	-0.0820	10	0.59425	D	0.04	-30.2576	19.8379	0.96666	0.0:1.0:0.0:0.0	.	409;451;409	F5GZ90;Q9NZJ0;B4E0E6	.;DTL_HUMAN;.	V	451;409;130	ENSP00000355958:A451V;ENSP00000443870:A409V	ENSP00000355958:A451V	A	+	2	0	DTL	210340307	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	3.426000	0.52778	2.765000	0.95021	0.655000	0.94253	GCC		0.522	DTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090182.1	NM_016448		6	301	0	0	0	1	0	6	301				
ZNF24	7572	broad.mit.edu	37	18	32917436	32917436	+	Silent	SNP	G	G	A			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr18:32917436G>A	ENST00000261332.6	-	4	1046	c.867C>T	c.(865-867)agC>agT	p.S289S	ZNF24_ENST00000399061.3_Silent_p.S289S|ZNF24_ENST00000589881.1_3'UTR	NM_006965.2	NP_008896.2	P17028	ZNF24_HUMAN	zinc finger protein 24	289	Necessary and sufficient for nuclear localization.				myelination (GO:0042552)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	15						TGGAACTTCGGCTGAATGCTT	0.453																																					Colon(42;769 913 8916 19469 46270)	ENST00000261332.6																			0				endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	15						c.(865-867)agC>agT		zinc finger protein 24							116.0	118.0	117.0					18																	32917436		2203	4300	6503	SO:0001819	synonymous_variant	7572				myelination|negative regulation of transcription, DNA-dependent|viral reproduction	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:32917436G>A	AF016052	CCDS11912.1	18q12	2013-01-09	2006-05-10		ENSG00000172466	ENSG00000172466		"""-"", ""Zinc fingers, C2H2-type"""	13032	protein-coding gene	gene with protein product		194534	"""zinc finger protein 24 (KOX 17)"""	ZNF191			Standard	NM_006965		Approved	ZSCAN3, Zfp191, KOX17	uc002kys.2	P17028	OTTHUMG00000132565	ENST00000261332.6:c.867C>T	18.37:g.32917436G>A			Somatic				ZNF24_ENST00000589881.1_3'UTR|ZNF24_ENST00000399061.3_Silent_p.S289S	p.S289S	NM_006965.2	NP_008896.2	WXS	Illumina GAIIx	Phase_I	P17028	ZNF24_HUMAN			4	1046	-			289					O14754|Q53YE4|Q6ICR5|Q8IZN4	Silent	SNP	ENST00000261332.6	37	c.867C>T	CCDS11912.1																																																																																				0.453	ZNF24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255769.1	NM_006965		4	308	0	0	0	1	0	4	308				
FER1L6	654463	broad.mit.edu	37	8	125082753	125082753	+	Missense_Mutation	SNP	T	T	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr8:125082753T>C	ENST00000522917.1	+	30	4086	c.3880T>C	c.(3880-3882)Tgg>Cgg	p.W1294R	FER1L6_ENST00000399018.1_Missense_Mutation_p.W1294R|FER1L6-AS2_ENST00000520031.1_RNA	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6	1294						integral component of membrane (GO:0016021)				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			TTTTGAAGACTGGGTGAAAAC	0.418																																						ENST00000522917.1																			0				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118						c.(3880-3882)Tgg>Cgg		fer-1-like 6 (C. elegans)							179.0	168.0	171.0					8																	125082753		1844	4082	5926	SO:0001583	missense	654463					integral to membrane		g.chr8:125082753T>C	AB196633	CCDS43767.1	8q24.13	2014-06-27	2014-06-27		ENSG00000214814	ENSG00000214814			28065	protein-coding gene	gene with protein product			"""fer-1-like 6 (C. elegans)"""				Standard	NM_001039112		Approved	C8ORFK23	uc003yqw.3	Q2WGJ9	OTTHUMG00000164998	ENST00000522917.1:c.3880T>C	8.37:g.125082753T>C	ENSP00000428280:p.Trp1294Arg		Somatic				FER1L6_ENST00000399018.1_Missense_Mutation_p.W1294R|FER1L6-AS2_ENST00000520031.1_RNA	p.W1294R	NM_001039112.2	NP_001034201.2	WXS	Illumina GAIIx	Phase_I	Q2WGJ9	FR1L6_HUMAN	STAD - Stomach adenocarcinoma(47;0.00186)		30	4086	+	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		1294						Missense_Mutation	SNP	ENST00000522917.1	37	c.3880T>C	CCDS43767.1	.	.	.	.	.	.	.	.	.	.	T	24.1	4.489665	0.84962	.	.	ENSG00000214814	ENST00000522917;ENST00000399018	D;D	0.82711	-1.64;-1.64	5.96	5.96	0.96718	.	0.000000	0.85682	U	0.000000	D	0.91250	0.7242	M	0.80183	2.485	0.80722	D	1	D	0.89917	1.0	D	0.73708	0.981	D	0.92282	0.5834	10	0.87932	D	0	-6.5392	16.1099	0.81255	0.0:0.0:0.0:1.0	.	1294	Q2WGJ9	FR1L6_HUMAN	R	1294	ENSP00000428280:W1294R;ENSP00000381982:W1294R	ENSP00000381982:W1294R	W	+	1	0	FER1L6	125151934	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.965000	0.87945	2.285000	0.76669	0.533000	0.62120	TGG		0.418	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381400.1	NM_001039112		7	201	0	0	0	1	0	7	201				
MAPRE3	22924	broad.mit.edu	37	2	27245090	27245090	+	Missense_Mutation	SNP	G	G	A			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr2:27245090G>A	ENST00000233121.2	+	2	202	c.4G>A	c.(4-6)Gcc>Acc	p.A2T	MAPRE3_ENST00000405074.3_Missense_Mutation_p.A2T|MAPRE3_ENST00000491354.1_3'UTR|MAPRE3_ENST00000402218.1_Missense_Mutation_p.A2T			Q9UPY8	MARE3_HUMAN	microtubule-associated protein, RP/EB family, member 3	2				A -> P (in Ref. 7; CAA72060). {ECO:0000305}.	mitotic nuclear division (GO:0007067)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of microtubule plus-end binding (GO:1903033)|positive regulation of transcription, DNA-templated (GO:0045893)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|midbody (GO:0030496)|perinuclear region of cytoplasm (GO:0048471)	microtubule binding (GO:0008017)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|upper_aerodigestive_tract(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTGGGGTATGGCCGTCAATGT	0.507																																						ENST00000233121.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|upper_aerodigestive_tract(1)	13						c.(4-6)Gcc>Acc		microtubule-associated protein, RP/EB family, member 3							188.0	178.0	182.0					2																	27245090		2203	4300	6503	SO:0001583	missense	22924				cell division|mitosis|positive regulation of transcription, DNA-dependent	cytoplasm|cytoplasmic microtubule|microtubule|midbody|perinuclear region of cytoplasm	microtubule binding|protein binding|small GTPase regulator activity	g.chr2:27245090G>A	Y11174	CCDS1731.1	2p23.3-p23.1	2008-06-04			ENSG00000084764	ENSG00000084764			6892	protein-coding gene	gene with protein product		605788				9233623	Standard	NM_012326		Approved	RP3, EB3	uc002rhw.3	Q9UPY8	OTTHUMG00000097067	ENST00000233121.2:c.4G>A	2.37:g.27245090G>A	ENSP00000233121:p.Ala2Thr		Somatic				MAPRE3_ENST00000405074.3_Missense_Mutation_p.A2T|MAPRE3_ENST00000491354.1_3'UTR|MAPRE3_ENST00000402218.1_Missense_Mutation_p.A2T	p.A2T			WXS	Illumina GAIIx	Phase_I	Q9UPY8	MARE3_HUMAN			2	202	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		2	A -> P (in Ref. 7; CAA72060).				B7WPK5|O00265|Q6FHB0|Q6FI15|Q9BZP7|Q9BZP8	Missense_Mutation	SNP	ENST00000233121.2	37	c.4G>A	CCDS1731.1	.	.	.	.	.	.	.	.	.	.	G	37	6.082752	0.97267	.	.	ENSG00000084764	ENST00000233121;ENST00000405074;ENST00000458529;ENST00000402218	T;T;T;T	0.47177	0.85;0.85;0.85;0.85	5.77	5.77	0.91146	Calponin homology domain (1);	0.000000	0.85682	D	0.000000	T	0.74581	0.3735	M	0.91196	3.185	0.80722	D	1	D;D;D	0.62365	0.974;0.976;0.991	P;P;P	0.61940	0.742;0.896;0.866	T	0.79072	-0.1953	10	0.62326	D	0.03	-15.6039	19.1176	0.93348	0.0:0.0:1.0:0.0	.	2;2;2	B7Z867;Q9UPY8-2;Q9UPY8	.;.;MARE3_HUMAN	T	2	ENSP00000233121:A2T;ENSP00000383915:A2T;ENSP00000391705:A2T;ENSP00000385715:A2T	ENSP00000233121:A2T	A	+	1	0	MAPRE3	27098594	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.758000	0.98927	2.884000	0.98904	0.655000	0.94253	GCC		0.507	MAPRE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214183.1	NM_012326		18	609	0	0	0	1	0	18	609				
ANKRD28	23243	broad.mit.edu	37	3	15726732	15726732	+	Splice_Site	SNP	C	C	A			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr3:15726732C>A	ENST00000399451.2	-	21	2667		c.e21+1		ANKRD28_ENST00000383777.1_Splice_Site|ANKRD28_ENST00000497037.1_Splice_Site	NM_001195098.1|NM_001195099.1|NM_015199.3	NP_001182027.1|NP_001182028.1|NP_056014.2	O15084	ANR28_HUMAN	ankyrin repeat domain 28							nucleus (GO:0005634)				breast(2)|endometrium(1)|large_intestine(2)|prostate(1)	6						GTATACTTAACCATTGTAGCA	0.373																																						ENST00000399451.2																			0				breast(2)|endometrium(1)|large_intestine(2)|prostate(1)	6						c.e21+1		ankyrin repeat domain 28							149.0	137.0	141.0					3																	15726732		1960	4156	6116	SO:0001630	splice_region_variant	23243					nucleoplasm	protein binding	g.chr3:15726732C>A	AY367056	CCDS46769.1, CCDS74908.1	3p25.1	2013-01-10			ENSG00000206560	ENSG00000206560		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"", ""Ankyrin repeat domain containing"""	29024	protein-coding gene	gene with protein product	"""phosphatase interactor targeting K protein"", ""protein phosphatase 6 ankyrin repeat subunit A"", ""protein phosphatase 1, regulatory subunit 65"""	611122				9205841	Standard	NM_015199		Approved	KIAA0379, PITK, PP6-ARS-A, PPP1R65	uc003caj.1	O15084	OTTHUMG00000155379	ENST00000399451.2:c.2299+1G>T	3.37:g.15726732C>A			Somatic				ANKRD28_ENST00000497037.1_Splice_Site|ANKRD28_ENST00000383777.1_Splice_Site		NM_001195098.1|NM_001195099.1|NM_015199.3	NP_001182027.1|NP_001182028.1|NP_056014.2	WXS	Illumina GAIIx	Phase_I	O15084	ANR28_HUMAN			21	2667	-								B4DES5|Q1WWL4|Q29RW6|Q3B857|Q6ULS0|Q6ZT57	Splice_Site	SNP	ENST00000399451.2	37		CCDS46769.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.731918	0.89390	.	.	ENSG00000206560	ENST00000399451;ENST00000383777;ENST00000412318	.	.	.	5.77	5.77	0.91146	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.0007	0.97408	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ANKRD28	15701736	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.818000	0.86416	2.726000	0.93360	0.650000	0.86243	.		0.373	ANKRD28-003	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339758.1	NM_015199	Intron	31	170	1	0	2.81731e-10	1	3.18972e-10	31	170				
PLSCR4	57088	broad.mit.edu	37	3	145918825	145918825	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr3:145918825C>A	ENST00000354952.2	-	5	634	c.394G>T	c.(394-396)Gaa>Taa	p.E132*	PLSCR4_ENST00000433593.2_Intron|PLSCR4_ENST00000383083.2_Intron|PLSCR4_ENST00000446574.2_Nonsense_Mutation_p.E132*|PLSCR4_ENST00000493382.1_Nonsense_Mutation_p.E132*	NM_020353.2	NP_065086.2	Q9NRQ2	PLS4_HUMAN	phospholipid scramblase 4	132					cellular response to lipopolysaccharide (GO:0071222)|phospholipid scrambling (GO:0017121)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|CD4 receptor binding (GO:0042609)|enzyme binding (GO:0019899)|phospholipid scramblase activity (GO:0017128)			kidney(1)|large_intestine(6)|lung(9)|urinary_tract(1)	17						TACATACTTTCCAGAGGCTCA	0.318																																						ENST00000354952.2																			0				kidney(1)|large_intestine(6)|lung(9)|urinary_tract(1)	17						c.(394-396)Gaa>Taa		phospholipid scramblase 4							76.0	80.0	78.0					3																	145918825		2203	4299	6502	SO:0001587	stop_gained	57088				blood coagulation|phospholipid scrambling	integral to membrane	calcium ion binding|phospholipid scramblase activity|SH3 domain binding	g.chr3:145918825C>A	AF199023	CCDS3133.1, CCDS54651.1	3q24	2008-07-18			ENSG00000114698	ENSG00000114698			16497	protein-coding gene	gene with protein product		607612				10930526	Standard	NM_020353		Approved		uc003evt.4	Q9NRQ2	OTTHUMG00000159415	ENST00000354952.2:c.394G>T	3.37:g.145918825C>A	ENSP00000347038:p.Glu132*		Somatic				PLSCR4_ENST00000446574.2_Nonsense_Mutation_p.E132*|PLSCR4_ENST00000383083.2_Intron|PLSCR4_ENST00000433593.2_Intron|PLSCR4_ENST00000493382.1_Nonsense_Mutation_p.E132*	p.E132*	NM_020353.2	NP_065086.2	WXS	Illumina GAIIx	Phase_I	Q9NRQ2	PLS4_HUMAN			5	634	-			132					A8K2E9|Q2TTR3|Q658L3|Q6ZR73|Q7Z505	Nonsense_Mutation	SNP	ENST00000354952.2	37	c.394G>T	CCDS3133.1	.	.	.	.	.	.	.	.	.	.	C	37	6.498589	0.97616	.	.	ENSG00000114698	ENST00000354952;ENST00000446574;ENST00000493382;ENST00000460350;ENST00000476202;ENST00000481701	.	.	.	5.25	5.25	0.73442	.	0.000000	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	15.8919	0.79305	0.0:1.0:0.0:0.0	.	.	.	.	X	132	.	ENSP00000347038:E132X	E	-	1	0	PLSCR4	147401515	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	2.540000	0.45727	2.730000	0.93505	0.655000	0.94253	GAA		0.318	PLSCR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355172.1	NM_020353		4	111	1	0	0.00116845	1	0.00123755	4	111				
PKP2	5318	broad.mit.edu	37	12	32996139	32996139	+	Missense_Mutation	SNP	A	A	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr12:32996139A>T	ENST00000070846.6	-	6	1511	c.1487T>A	c.(1486-1488)gTt>gAt	p.V496D	PKP2_ENST00000340811.4_Intron	NM_004572.3	NP_004563.2	Q99959	PKP2_HUMAN	plakophilin 2	496					adherens junction maintenance (GO:0034334)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential (GO:0086001)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cell-cell signaling involved in cardiac conduction (GO:0086019)|desmosome assembly (GO:0002159)|gap junction assembly (GO:0016264)|heart development (GO:0007507)|intermediate filament bundle assembly (GO:0045110)|lipid homeostasis (GO:0055088)|maintenance of organ identity (GO:0048496)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|positive regulation of sodium ion transport (GO:0010765)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of tight junction assembly (GO:2000810)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	adherens junction (GO:0005912)|cell junction (GO:0030054)|cell-cell junction (GO:0005911)|desmosome (GO:0030057)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intermediate filament binding (GO:0019215)|ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|protein kinase C binding (GO:0005080)|sodium channel regulator activity (GO:0017080)			NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					ctggtctcgaactcctgacct	0.557																																						ENST00000070846.6																			0				NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50						c.(1486-1488)gTt>gAt		plakophilin 2							22.0	22.0	22.0					12																	32996139		2200	4293	6493	SO:0001583	missense	5318				cell-cell adhesion	desmosome|integral to membrane|nucleus	binding	g.chr12:32996139A>T	X97675	CCDS8731.1, CCDS31771.1	12p11	2014-09-17				ENSG00000057294		"""Armadillo repeat containing"""	9024	protein-coding gene	gene with protein product		602861				8922383	Standard	NM_001005242		Approved		uc001rlj.4	Q99959	OTTHUMG00000169500	ENST00000070846.6:c.1487T>A	12.37:g.32996139A>T	ENSP00000070846:p.Val496Asp		Somatic				PKP2_ENST00000340811.4_Intron	p.V496D	NM_004572.3	NP_004563.2	WXS	Illumina GAIIx	Phase_I	Q99959	PKP2_HUMAN			6	1511	-	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)		496					A0AV37|B8QFA1|B8QGS6|B8QGS7|D3DUW9|Q4VC01|Q99960	Missense_Mutation	SNP	ENST00000070846.6	37	c.1487T>A	CCDS8731.1	.	.	.	.	.	.	.	.	.	.	A	0.037	-1.302962	0.01353	.	.	ENSG00000057294	ENST00000070846;ENST00000537278	T	0.39997	1.05	0.51	0.51	0.16983	Armadillo-type fold (1);	.	.	.	.	T	0.23133	0.0559	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.18903	-1.0322	8	0.44086	T	0.13	.	.	.	.	.	496	Q99959	PKP2_HUMAN	D	496	ENSP00000070846:V496D	ENSP00000070846:V496D	V	-	2	0	PKP2	32887406	0.004000	0.15560	0.004000	0.12327	0.011000	0.07611	0.543000	0.23237	0.436000	0.26393	0.260000	0.18958	GTT		0.557	PKP2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404449.1	NM_004572		4	251	0	0	0	1	0	4	251				
TIE1	7075	broad.mit.edu	37	1	43783270	43783270	+	Missense_Mutation	SNP	G	G	A			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr1:43783270G>A	ENST00000372476.3	+	16	2735	c.2656G>A	c.(2656-2658)Gga>Aga	p.G886R	TIE1_ENST00000473014.1_3'UTR|TIE1_ENST00000433781.2_Missense_Mutation_p.G531R	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	886	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|in utero embryonic development (GO:0001701)|mesoderm development (GO:0007498)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|peptidyl-tyrosine phosphorylation (GO:0018108)|plasma membrane fusion (GO:0045026)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TGACTTTGCGGGAGAACTGGA	0.502																																						ENST00000372476.3																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70						c.(2656-2658)Gga>Aga		tyrosine kinase with immunoglobulin-like and EGF-like domains 1							164.0	179.0	174.0					1																	43783270		2203	4300	6503	SO:0001583	missense	7075				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr1:43783270G>A	BC038239	CCDS482.1	1p34-p33	2013-02-11	2004-12-13	2004-12-14	ENSG00000066056	ENSG00000066056	2.7.10.1	"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	11809	protein-coding gene	gene with protein product		600222	"""tyrosine kinase with immunoglobulin and epidermal growth factor homology domains 1"""	TIE		1312667	Standard	NM_005424		Approved	JTK14	uc001ciu.3	P35590	OTTHUMG00000007282	ENST00000372476.3:c.2656G>A	1.37:g.43783270G>A	ENSP00000361554:p.Gly886Arg		Somatic				TIE1_ENST00000433781.2_Missense_Mutation_p.G531R|TIE1_ENST00000473014.1_3'UTR	p.G886R	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	WXS	Illumina GAIIx	Phase_I	P35590	TIE1_HUMAN			16	2735	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	886			Protein kinase.		B5A949|B5A950	Missense_Mutation	SNP	ENST00000372476.3	37	c.2656G>A	CCDS482.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.910246	0.92107	.	.	ENSG00000066056	ENST00000372476;ENST00000372475;ENST00000536913;ENST00000433781	D;D	0.81659	-1.52;-1.52	5.66	5.66	0.87406	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.39475	N	0.001342	T	0.73999	0.3659	N	0.00648	-1.295	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.70935	0.971;0.96;0.971	D	0.86228	0.1635	10	0.72032	D	0.01	.	19.7383	0.96217	0.0:0.0:1.0:0.0	.	841;531;886	B4DTW8;B4DKW0;P35590	.;.;TIE1_HUMAN	R	886;289;169;531	ENSP00000361554:G886R;ENSP00000411728:G531R	ENSP00000361553:G289R	G	+	1	0	TIE1	43555857	1.000000	0.71417	0.991000	0.47740	0.998000	0.95712	9.869000	0.99810	2.675000	0.91044	0.655000	0.94253	GGA		0.502	TIE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019011.1	NM_005424		3	192	0	0	0	1	0	3	192				
C17orf64	124773	broad.mit.edu	37	17	58511256	58511256	+	IGR	SNP	C	C	A	rs577271750		TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr17:58511256C>A	ENST00000269127.4	+	0	950				RPL12P38_ENST00000588627.1_RNA	NM_181707.2	NP_859058.2	Q86WR6	CQ064_HUMAN	chromosome 17 open reading frame 64											breast(2)|large_intestine(1)|lung(3)	6	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;5.81e-13)|all cancers(12;2.17e-11)|Colorectal(3;0.01)			GCAAGGTTGACGATCTCATCA	0.473																																						ENST00000588627.1																			0																																																	SO:0001628	intergenic_variant	645688							g.chr17:58511256C>A	BC048806	CCDS32698.2	17q23.2	2005-12-16			ENSG00000141371	ENSG00000141371			26990	protein-coding gene	gene with protein product						12477932	Standard	NM_181707		Approved		uc002iyq.3	Q86WR6	OTTHUMG00000157171		17.37:g.58511256C>A			Somatic								WXS	Illumina GAIIx	Phase_I					0	2101	-								Q8IY87	RNA	SNP	ENST00000269127.4	37		CCDS32698.2																																																																																				0.473	C17orf64-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000347743.1	NM_181707		3	60	1	0	1	1	1	3	60				
FAT3	120114	broad.mit.edu	37	11	92533197	92533197	+	Missense_Mutation	SNP	G	G	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr11:92533197G>T	ENST00000298047.6	+	9	7035	c.7018G>T	c.(7018-7020)Gat>Tat	p.D2340Y	FAT3_ENST00000525166.1_Missense_Mutation_p.D2190Y|FAT3_ENST00000409404.2_Missense_Mutation_p.D2340Y			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2340	Cadherin 21. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TTTTCACATAGATAGCTCAAG	0.383										TCGA Ovarian(4;0.039)																												ENST00000298047.6																			0				NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85						c.(7018-7020)Gat>Tat		FAT atypical cadherin 3							96.0	89.0	91.0					11																	92533197		1939	4134	6073	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92533197G>T	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.7018G>T	11.37:g.92533197G>T	ENSP00000298047:p.Asp2340Tyr	TCGA Ovarian(4;0.039)	Somatic				FAT3_ENST00000409404.2_Missense_Mutation_p.D2340Y|FAT3_ENST00000525166.1_Missense_Mutation_p.D2190Y	p.D2340Y			WXS	Illumina GAIIx	Phase_I	Q8TDW7	FAT3_HUMAN			9	7035	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	2340			Cadherin 21.		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.7018G>T		.	.	.	.	.	.	.	.	.	.	G	18.05	3.536236	0.64972	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.63744	-0.06;-0.06;-0.06	5.95	5.95	0.96441	.	.	.	.	.	D	0.89178	0.6641	H	0.99104	4.43	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92995	0.6418	9	0.87932	D	0	.	20.3931	0.98965	0.0:0.0:1.0:0.0	.	2340	Q8TDW7-3	.	Y	2340;2340;2190	ENSP00000298047:D2340Y;ENSP00000387040:D2340Y;ENSP00000432586:D2190Y	ENSP00000298047:D2340Y	D	+	1	0	FAT3	92172845	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.787000	0.99055	2.824000	0.97209	0.655000	0.94253	GAT		0.383	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		8	110	1	0	2.17888e-05	1	2.41145e-05	8	110				
ITGA5	3678	broad.mit.edu	37	12	54797447	54797447	+	Missense_Mutation	SNP	C	C	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr12:54797447C>T	ENST00000293379.4	-	17	1999	c.1738G>A	c.(1738-1740)Gct>Act	p.A580T	RP11-753H16.5_ENST00000552785.1_RNA|RP11-753H16.3_ENST00000550474.1_RNA	NM_002205.2	NP_002196.2	P08648	ITA5_HUMAN	integrin, alpha 5 (fibronectin receptor, alpha polypeptide)	580					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-substrate adhesion (GO:0031589)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|memory (GO:0007613)|negative regulation of anoikis (GO:2000811)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|viral process (GO:0016032)|wound healing, spreading of epidermal cells (GO:0035313)	alphav-beta3 integrin-vitronectin complex (GO:0071062)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	metal ion binding (GO:0046872)|platelet-derived growth factor receptor binding (GO:0005161)|vascular endothelial growth factor receptor 2 binding (GO:0043184)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	34						TCCTCTCGAGCCCCATTCTGG	0.627																																						ENST00000293379.4																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	34						c.(1738-1740)Gct>Act		integrin, alpha 5 (fibronectin receptor, alpha polypeptide)							86.0	83.0	84.0					12																	54797447		2203	4300	6503	SO:0001583	missense	3678				angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells	alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle	platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding	g.chr12:54797447C>T		CCDS8880.1	12q11-q13	2010-03-23				ENSG00000161638		"""CD molecules"", ""Integrins"""	6141	protein-coding gene	gene with protein product		135620		FNRA		2454952	Standard	NM_002205		Approved	CD49e	uc001sga.3	P08648	OTTHUMG00000169841	ENST00000293379.4:c.1738G>A	12.37:g.54797447C>T	ENSP00000293379:p.Ala580Thr		Somatic				RP11-753H16.5_ENST00000552785.1_RNA|RP11-753H16.3_ENST00000550474.1_RNA	p.A580T	NM_002205.2	NP_002196.2	WXS	Illumina GAIIx	Phase_I	P08648	ITA5_HUMAN			17	1999	-			580					Q96HA5	Missense_Mutation	SNP	ENST00000293379.4	37	c.1738G>A	CCDS8880.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.687621	0.88639	.	.	ENSG00000161638	ENST00000293379	T	0.46063	0.88	5.22	4.32	0.51571	Integrin alpha-2 (1);	0.190561	0.45126	D	0.000384	T	0.43500	0.1250	L	0.29908	0.895	0.37377	D	0.911877	D	0.55172	0.97	P	0.53401	0.725	T	0.51116	-0.8746	10	0.49607	T	0.09	.	13.8101	0.63256	0.0:0.8451:0.1549:0.0	.	580	P08648	ITA5_HUMAN	T	580	ENSP00000293379:A580T	ENSP00000293379:A580T	A	-	1	0	ITGA5	53083714	1.000000	0.71417	0.991000	0.47740	0.936000	0.57629	5.192000	0.65115	1.323000	0.45263	0.561000	0.74099	GCT		0.627	ITGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406174.1			9	90	0	0	0	1	0	9	90				
RNF113B	140432	broad.mit.edu	37	13	98828727	98828727	+	Missense_Mutation	SNP	C	C	T	rs199776079	byFrequency	TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr13:98828727C>T	ENST00000267291.6	-	1	792	c.764G>A	c.(763-765)aGg>aAg	p.R255K	FARP1_ENST00000319562.6_Intron|FARP1_ENST00000376586.2_Intron|FARP1_ENST00000595437.1_Intron|FARP1_ENST00000376581.5_Intron	NM_178861.4	NP_849192.1	Q8IZP6	R113B_HUMAN	ring finger protein 113B	255							zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	18	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.13)			TATGAAACACCTGAATGGTAT	0.557																																						ENST00000267291.6																			0				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						c.(763-765)aGg>aAg		ring finger protein 113B		C	,,LYS/ARG	0,4406		0,0,2203	128.0	125.0	126.0		,,764	-1.8	0.9	13		126	3,8597	3.0+/-9.4	0,3,4297	yes	intron,intron,missense	FARP1,RNF113B	NM_001001715.2,NM_005766.2,NM_178861.4	,,26	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	,,benign	,,255/323	98828727	3,13003	2203	4300	6503	SO:0001583	missense	140432						nucleic acid binding|zinc ion binding	g.chr13:98828727C>T	AF539427	CCDS9486.1	13q32.2	2006-08-22	2005-03-22	2005-03-22	ENSG00000139797	ENSG00000139797		"""RING-type (C3HC4) zinc fingers"""	17267	protein-coding gene	gene with protein product			"""zinc finger protein 183-like 1"""	ZNF183L1			Standard	NM_178861		Approved	RNF161	uc001vnk.3	Q8IZP6	OTTHUMG00000017245	ENST00000267291.6:c.764G>A	13.37:g.98828727C>T	ENSP00000267291:p.Arg255Lys		Somatic				FARP1_ENST00000376586.2_Intron|FARP1_ENST00000376581.5_Intron|FARP1_ENST00000319562.6_Intron|FARP1_ENST00000595437.1_Intron	p.R255K	NM_178861.4	NP_849192.1	WXS	Illumina GAIIx	Phase_I	Q8IZP6	R113B_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.13)		1	792	-	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		255					Q8WWF9|Q96QY9	Missense_Mutation	SNP	ENST00000267291.6	37	c.764G>A	CCDS9486.1	.	.	.	.	.	.	.	.	.	.	C	0.029	-1.347194	0.01266	0.0	3.49E-4	ENSG00000139797	ENST00000267291	T	0.77750	-1.12	1.57	-1.78	0.07957	Zinc finger, RING/FYVE/PHD-type (1);	0.058972	0.64402	N	0.000003	T	0.33294	0.0858	N	0.00493	-1.44	0.23132	N	0.99824	B	0.02656	0.0	B	0.04013	0.001	T	0.49399	-0.8944	10	0.02654	T	1	.	5.2034	0.15277	0.0:0.3704:0.0:0.6296	.	255	Q8IZP6	R113B_HUMAN	K	255	ENSP00000267291:R255K	ENSP00000267291:R255K	R	-	2	0	RNF113B	97626728	1.000000	0.71417	0.949000	0.38748	0.483000	0.33249	3.632000	0.54287	-0.300000	0.08895	-0.423000	0.05987	AGG		0.557	RNF113B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045536.3	NM_178861		3	111	0	0	0	1	0	3	111				
ETFDH	2110	broad.mit.edu	37	4	159618709	159618709	+	Splice_Site	SNP	A	A	T	rs568659333	byFrequency	TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr4:159618709A>T	ENST00000511912.1	+	8	1163		c.e8-1		ETFDH_ENST00000307738.5_Splice_Site	NM_001281738.1|NM_004453.2	NP_001268667.1|NP_004444.2	Q16134	ETFD_HUMAN	electron-transferring-flavoprotein dehydrogenase						cellular metabolic process (GO:0044237)|electron transport chain (GO:0022900)|fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)|respiratory electron transport chain (GO:0022904)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	integral component of mitochondrial inner membrane (GO:0031305)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)	4 iron, 4 sulfur cluster binding (GO:0051539)|electron carrier activity (GO:0009055)|electron-transferring-flavoprotein dehydrogenase activity (GO:0004174)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, oxidizing metal ions with flavin as acceptor (GO:0043783)|quinone binding (GO:0048038)|ubiquinone binding (GO:0048039)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|prostate(1)|skin(3)	28	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0172)		TTTTTTTTTTAGTTATGGGTT	0.348													A|||	14	0.00279553	0.0038	0.0029	5008	,	,		15561	0.001		0.004	False		,,,				2504	0.002					ENST00000511912.1																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|prostate(1)|skin(3)	28						c.e8-1		electron-transferring-flavoprotein dehydrogenase							54.0	58.0	56.0					4																	159618709		2202	4300	6502	SO:0001630	splice_region_variant	2110				fatty acid beta-oxidation using acyl-CoA dehydrogenase|respiratory electron transport chain|response to oxidative stress|transport	integral to mitochondrial inner membrane|mitochondrial matrix	4 iron, 4 sulfur cluster binding|electron carrier activity|electron-transferring-flavoprotein dehydrogenase activity|flavin adenine dinucleotide binding|metal ion binding|oxidoreductase activity, oxidizing metal ions with flavin as acceptor|ubiquinone binding	g.chr4:159618709A>T	S69232	CCDS3800.1, CCDS64090.1	4q32-q35	2008-08-26			ENSG00000171503	ENSG00000171503			3483	protein-coding gene	gene with protein product		231675					Standard	NM_004453		Approved	ETFQO	uc003iqb.3	Q16134	OTTHUMG00000161684	ENST00000511912.1:c.832-1A>T	4.37:g.159618709A>T			Somatic				ETFDH_ENST00000307738.5_Splice_Site		NM_004453.2	NP_004444.2	WXS	Illumina GAIIx	Phase_I	Q16134	ETFD_HUMAN		COAD - Colon adenocarcinoma(41;0.0172)	8	1163	+	all_hematologic(180;0.24)	Renal(120;0.0458)						B4E3R9|J3KND9|Q7Z347	Splice_Site	SNP	ENST00000511912.1	37		CCDS3800.1	.	.	.	.	.	.	.	.	.	.	A	24.5	4.536374	0.85812	.	.	ENSG00000171503	ENST00000511912;ENST00000507475;ENST00000307738	.	.	.	5.55	5.55	0.83447	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.6957	0.77494	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ETFDH	159838159	1.000000	0.71417	0.904000	0.35570	0.972000	0.66771	9.339000	0.96797	2.104000	0.64026	0.533000	0.62120	.		0.348	ETFDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365718.2		Intron	4	104	0	0	0	1	0	4	104				
CYP11A1	1583	broad.mit.edu	37	15	74627331	74627331	+	IGR	SNP	C	C	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr15:74627331C>T	ENST00000268053.6	-	0	1934				CCDC33_ENST00000321288.5_Nonsense_Mutation_p.R918*|CCDC33_ENST00000398814.3_Nonsense_Mutation_p.R681*|CCDC33_ENST00000268082.4_Nonsense_Mutation_p.R308*|CCDC33_ENST00000558821.1_Nonsense_Mutation_p.R274*	NM_000781.2	NP_000772.2	P05108	CP11A_HUMAN	cytochrome P450, family 11, subfamily A, polypeptide 1						biphenyl metabolic process (GO:0018879)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to antibiotic (GO:0071236)|cellular response to cadmium ion (GO:0071276)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to peptide hormone stimulus (GO:0071375)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to tumor necrosis factor (GO:0071356)|cerebellum development (GO:0021549)|cholesterol metabolic process (GO:0008203)|dibenzo-p-dioxin metabolic process (GO:0018894)|estrogen biosynthetic process (GO:0006703)|fractalkine metabolic process (GO:0050756)|granulosa cell differentiation (GO:0060014)|hippocampus development (GO:0021766)|Leydig cell differentiation (GO:0033327)|maternal process involved in female pregnancy (GO:0060135)|mating behavior (GO:0007617)|phenol-containing compound metabolic process (GO:0018958)|phthalate metabolic process (GO:0018963)|progesterone biosynthetic process (GO:0006701)|response to alkaloid (GO:0043279)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to fungicide (GO:0060992)|response to gamma radiation (GO:0010332)|response to genistein (GO:0033595)|response to hydrogen peroxide (GO:0042542)|response to insecticide (GO:0017085)|response to L-ascorbic acid (GO:0033591)|response to salt stress (GO:0009651)|response to vitamin E (GO:0033197)|Schwann cell differentiation (GO:0014037)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|testosterone biosynthetic process (GO:0061370)|vitamin D metabolic process (GO:0042359)|xenobiotic metabolic process (GO:0006805)	mitochondrial crista (GO:0030061)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|perikaryon (GO:0043204)	cholesterol binding (GO:0015485)|cholesterol monooxygenase (side-chain-cleaving) activity (GO:0008386)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20					Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Clomifene(DB00882)|Clotrimazole(DB00257)|Dexamethasone(DB01234)|Digitoxin(DB01396)|Digoxin(DB00390)|Dinoprostone(DB00917)|Glutethimide(DB01437)|Ketoconazole(DB01026)|Omeprazole(DB00338)|Saquinavir(DB01232)|Terbinafine(DB00857)|Testosterone(DB00624)	GGACTCAGCTCGACGCTGGGG	0.577																																					Esophageal Squamous(87;818 1337 4093 9268 37314)	ENST00000321288.5																			0				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						c.(2752-2754)Cga>Tga		coiled-coil domain containing 33							86.0	91.0	89.0					15																	74627331		2037	4182	6219	SO:0001628	intergenic_variant	80125						protein binding	g.chr15:74627331C>T	AK056794	CCDS32291.1, CCDS45303.1	15q23-q24	2010-05-04	2003-01-14	2003-01-17	ENSG00000140459	ENSG00000140459	1.14.15.6	"""Cytochrome P450s"""	2590	protein-coding gene	gene with protein product	"""cholesterol monooxygenase (side-chain-cleaving)"""	118485	"""cytochrome P450, subfamily XIA (cholesterol side chain cleavage)"""	CYP11A			Standard	NM_000781		Approved	P450SCC	uc002axt.2	P05108	OTTHUMG00000150716		15.37:g.74627331C>T			Somatic				CCDC33_ENST00000558821.1_Nonsense_Mutation_p.R274*|CCDC33_ENST00000268082.4_Nonsense_Mutation_p.R308*|CCDC33_ENST00000398814.3_Nonsense_Mutation_p.R681*	p.R918*			WXS	Illumina GAIIx	Phase_I	Q8N5R6	CCD33_HUMAN			21	2752	+			884					A8K8D5|B3KPU8|G3XAD7|Q15081|Q16805|Q8N1A7	Nonsense_Mutation	SNP	ENST00000268053.6	37	c.2752C>T	CCDS32291.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.679913	0.88542	.	.	ENSG00000140481	ENST00000321288;ENST00000398814;ENST00000321374;ENST00000268082	.	.	.	4.92	3.96	0.45880	.	0.181706	0.35870	N	0.002939	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.4693	0.61273	0.1694:0.8306:0.0:0.0	.	.	.	.	X	918;681;274;308	.	ENSP00000268082:R308X	R	+	1	2	CCDC33	72414384	0.326000	0.24669	0.983000	0.44433	0.983000	0.72400	1.015000	0.29963	0.981000	0.38548	0.478000	0.44815	CGA		0.577	CYP11A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319737.1			5	209	0	0	0	1	0	5	209				
CD1A	909	broad.mit.edu	37	1	158226831	158226831	+	Missense_Mutation	SNP	G	G	A			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr1:158226831G>A	ENST00000289429.5	+	4	1393	c.860G>A	c.(859-861)gGc>gAc	p.G287D		NM_001763.2	NP_001754.2	P06126	CD1A_HUMAN	CD1a molecule	287	Ig-like.				antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)		p.G287V(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	32	all_hematologic(112;0.0378)				Antithymocyte globulin(DB00098)	AGTCTAGAGGGCCAGGACATC	0.592																																						ENST00000289429.5																			1	Substitution - Missense(1)	p.G287V(1)	lung(1)	NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	32						c.(859-861)gGc>gAc		CD1a molecule	Antithymocyte globulin(DB00098)						69.0	65.0	66.0					1																	158226831		2203	4300	6503	SO:0001583	missense	909				antigen processing and presentation|immune response	endosome membrane|integral to plasma membrane|MHC class I protein complex		g.chr1:158226831G>A	M28825	CCDS1174.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158477	ENSG00000158477		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1634	protein-coding gene	gene with protein product		188370	"""CD1A antigen, a polypeptide"", ""CD1a antigen"""	CD1		2447586, 2784820	Standard	NM_001763		Approved		uc001frt.3	P06126	OTTHUMG00000017512	ENST00000289429.5:c.860G>A	1.37:g.158226831G>A	ENSP00000289429:p.Gly287Asp		Somatic					p.G287D	NM_001763.2	NP_001754.2	WXS	Illumina GAIIx	Phase_I	P06126	CD1A_HUMAN			4	1393	+	all_hematologic(112;0.0378)		287			Ig-like.		D3DVD7|Q13962|Q5TDJ8|Q9UMM4|Q9Y5M5	Missense_Mutation	SNP	ENST00000289429.5	37	c.860G>A	CCDS1174.1	.	.	.	.	.	.	.	.	.	.	-	5.523	0.281466	0.10458	.	.	ENSG00000158477	ENST00000289429	T	0.13778	2.56	3.84	-5.15	0.02866	Immunoglobulin-like (1);MHC class I-like antigen recognition (1);Immunoglobulin C1-set (1);	0.402896	0.18428	N	0.141526	T	0.02418	0.0074	L	0.33339	1.005	0.09310	N	1	B	0.26195	0.144	B	0.30646	0.118	T	0.36866	-0.9730	10	0.32370	T	0.25	-5.1518	5.9912	0.19465	0.6011:0.0:0.2563:0.1425	.	287	P06126	CD1A_HUMAN	D	287	ENSP00000289429:G287D	ENSP00000289429:G287D	G	+	2	0	CD1A	156493455	0.000000	0.05858	0.002000	0.10522	0.148000	0.21650	-0.869000	0.04232	-1.406000	0.02045	0.491000	0.48974	GGC		0.592	CD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046349.2	NM_001763		7	155	0	0	0	1	0	7	155				
GADL1	339896	broad.mit.edu	37	3	30875766	30875766	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr3:30875766C>T	ENST00000282538.5	-	10	1061	c.911G>A	c.(910-912)tGg>tAg	p.W304*	GADL1_ENST00000454381.3_Nonsense_Mutation_p.W304*	NM_207359.2	NP_997242.2	Q6ZQY3	GADL1_HUMAN	glutamate decarboxylase-like 1	304					carboxylic acid metabolic process (GO:0019752)		aspartate 1-decarboxylase activity (GO:0004068)|pyridoxal phosphate binding (GO:0030170)|sulfinoalanine decarboxylase activity (GO:0004782)			breast(2)|endometrium(3)|kidney(2)|lung(17)|upper_aerodigestive_tract(1)	25						TGAGCCACCCCAAGAAGCCTG	0.443																																						ENST00000454381.3																			0				breast(2)|endometrium(3)|kidney(2)|lung(17)|upper_aerodigestive_tract(1)	25						c.(910-912)tGg>tAg		glutamate decarboxylase-like 1	Pyridoxal Phosphate(DB00114)						98.0	102.0	100.0					3																	30875766		2203	4300	6503	SO:0001587	stop_gained	339896				carboxylic acid metabolic process		carboxy-lyase activity|pyridoxal phosphate binding	g.chr3:30875766C>T	AK128643	CCDS2649.2	3p23-p22	2009-01-14			ENSG00000144644	ENSG00000144644			27949	protein-coding gene	gene with protein product		615601					Standard	NM_207359		Approved		uc003cep.2	Q6ZQY3	OTTHUMG00000130621	ENST00000282538.5:c.911G>A	3.37:g.30875766C>T	ENSP00000282538:p.Trp304*		Somatic				GADL1_ENST00000282538.5_Nonsense_Mutation_p.W304*	p.W304*			WXS	Illumina GAIIx	Phase_I	Q6ZQY3	GADL1_HUMAN			10	957	-			304						Nonsense_Mutation	SNP	ENST00000282538.5	37	c.911G>A	CCDS2649.2	.	.	.	.	.	.	.	.	.	.	C	38	6.715991	0.97784	.	.	ENSG00000144644	ENST00000282538;ENST00000454381	.	.	.	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.4679	19.0768	0.93165	0.0:1.0:0.0:0.0	.	.	.	.	X	304	.	ENSP00000282538:W304X	W	-	2	0	GADL1	30850770	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.154000	0.77437	2.513000	0.84729	0.561000	0.74099	TGG		0.443	GADL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253106.2	NM_207359		15	160	0	0	0	1	0	15	160				
OR5K4	403278	broad.mit.edu	37	3	98072960	98072960	+	Missense_Mutation	SNP	A	A	G			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr3:98072960A>G	ENST00000354924.2	+	1	263	c.263A>G	c.(262-264)gAg>gGg	p.E88G	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005517.1	NP_001005517.1	A6NMS3	OR5K4_HUMAN	olfactory receptor, family 5, subfamily K, member 4	88						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	21						TTCTTTTCTGAGGATAGAATT	0.428																																						ENST00000354924.2																			0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	21						c.(262-264)gAg>gGg		olfactory receptor, family 5, subfamily K, member 4							234.0	245.0	241.0					3																	98072960		2203	4300	6503	SO:0001583	missense	403278				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:98072960A>G		CCDS33802.1	3q11.2	2013-09-23			ENSG00000196098	ENSG00000196098		"""GPCR / Class A : Olfactory receptors"""	31291	protein-coding gene	gene with protein product							Standard	NM_001005517		Approved		uc011bgv.2	A6NMS3	OTTHUMG00000160081	ENST00000354924.2:c.263A>G	3.37:g.98072960A>G	ENSP00000347003:p.Glu88Gly		Somatic				RP11-325B23.2_ENST00000508616.1_lincRNA	p.E88G	NM_001005517.1	NP_001005517.1	WXS	Illumina GAIIx	Phase_I	A6NMS3	OR5K4_HUMAN			1	263	+			88						Missense_Mutation	SNP	ENST00000354924.2	37	c.263A>G	CCDS33802.1	.	.	.	.	.	.	.	.	.	.	A	0.298	-0.975476	0.02215	.	.	ENSG00000196098	ENST00000354924	T	0.10192	2.9	4.77	2.31	0.28768	GPCR, rhodopsin-like superfamily (1);	1.175640	0.06765	U	0.782531	T	0.06690	0.0171	N	0.17631	0.505	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.45175	-0.9279	10	0.13470	T	0.59	-2.1207	4.9896	0.14207	0.7394:0.0:0.0923:0.1683	.	88	A6NMS3	OR5K4_HUMAN	G	88	ENSP00000347003:E88G	ENSP00000347003:E88G	E	+	2	0	OR5K4	99555650	0.000000	0.05858	0.040000	0.18447	0.118000	0.20060	0.688000	0.25422	0.374000	0.24650	0.491000	0.48974	GAG		0.428	OR5K4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359114.1			8	1371	0	0	0	1	0	8	1371				
FAM65A	79567	broad.mit.edu	37	16	67576514	67576514	+	Missense_Mutation	SNP	A	A	G			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr16:67576514A>G	ENST00000379312.3	+	13	1958	c.1837A>G	c.(1837-1839)Acc>Gcc	p.T613A	FAM65A_ENST00000428437.2_Missense_Mutation_p.T623A|CTD-2012K14.4_ENST00000564717.1_RNA|FAM65A_ENST00000422602.2_Missense_Mutation_p.T629A|CTD-2012K14.2_ENST00000567122.1_RNA|FAM65A_ENST00000540839.3_Missense_Mutation_p.T629A|FAM65A_ENST00000042381.4_Missense_Mutation_p.T609A|CTD-2012K14.3_ENST00000563083.1_RNA	NM_001193522.1|NM_024519.3	NP_001180451.1|NP_078795.2	Q6ZS17	FA65A_HUMAN	family with sequence similarity 65, member A	613	Pro-rich.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)		GCCAAGCCCTACCCATACCAC	0.542																																						ENST00000540839.3																			0				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39						c.(1885-1887)Acc>Gcc		family with sequence similarity 65, member A							432.0	402.0	412.0					16																	67576514		2198	4300	6498	SO:0001583	missense	79567					cytoplasm	binding	g.chr16:67576514A>G	AK127792	CCDS10840.1, CCDS54026.1, CCDS54027.1, CCDS54028.1	16q22.1	2008-02-05			ENSG00000039523	ENSG00000039523			25836	protein-coding gene	gene with protein product						11572484	Standard	NM_001193522		Approved	FLJ13725	uc010vjp.2	Q6ZS17	OTTHUMG00000137536	ENST00000379312.3:c.1837A>G	16.37:g.67576514A>G	ENSP00000368614:p.Thr613Ala		Somatic				CTD-2012K14.3_ENST00000563083.1_RNA|FAM65A_ENST00000042381.4_Missense_Mutation_p.T609A|FAM65A_ENST00000379312.3_Missense_Mutation_p.T613A|FAM65A_ENST00000428437.2_Missense_Mutation_p.T623A|FAM65A_ENST00000422602.2_Missense_Mutation_p.T629A	p.T629A			WXS	Illumina GAIIx	Phase_I	Q6ZS17	FA65A_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)	14	2105	+		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)	613			Pro-rich.		B4DEQ9|B4DIM2|E9PBS3|Q4G0A4|Q7Z5R7|Q8NDA4|Q96J39|Q96PV8|Q9H8D9	Missense_Mutation	SNP	ENST00000379312.3	37	c.1885A>G	CCDS54028.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	a|a	11.59|11.59	1.683901|1.683901	0.29872|0.29872	.|.	.|.	ENSG00000039523|ENSG00000039523	ENST00000379312;ENST00000042381;ENST00000422602;ENST00000540839|ENST00000428437	T;T;T|.	0.16743|.	2.32;2.32;2.32|.	4.72|4.72	0.699|0.699	0.18093|0.18093	.|.	0.737333|.	0.13664|.	N|.	0.371414|.	T|T	0.16896|0.16896	0.0406|0.0406	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	B;B;B;B|.	0.02656|.	0.0;0.0;0.0;0.0|.	B;B;B;B|.	0.04013|.	0.0;0.0;0.0;0.001|.	T|T	0.29058|0.29058	-1.0024|-1.0024	10|5	0.34782|.	T|.	0.22|.	-2.8541|-2.8541	7.4237|7.4237	0.27085|0.27085	0.6584:0.0:0.3416:0.0|0.6584:0.0:0.3416:0.0	.|.	623;629;613;629|.	B4DIM2;E9PBS3;Q6ZS17;B4DEQ9|.	.;.;FA65A_HUMAN;.|.	A|C	613;609;629;623|603	ENSP00000368614:T613A;ENSP00000042381:T609A;ENSP00000400099:T629A|.	ENSP00000042381:T609A|.	T|Y	+|+	1|2	0|0	FAM65A|FAM65A	66134015|66134015	0.000000|0.000000	0.05858|0.05858	0.004000|0.004000	0.12327|0.12327	0.094000|0.094000	0.18550|0.18550	-0.846000|-0.846000	0.04336|0.04336	0.270000|0.270000	0.21984|0.21984	-0.677000|-0.677000	0.03784|0.03784	ACC|TAC		0.542	FAM65A-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000268866.3	NM_024519		5	246	0	0	0	1	0	5	246				
TFRC	7037	broad.mit.edu	37	3	195778819	195778819	+	Missense_Mutation	SNP	C	C	A			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr3:195778819C>A	ENST00000360110.4	-	19	2446	c.2277G>T	c.(2275-2277)gaG>gaT	p.E759D	TFRC_ENST00000420415.1_Missense_Mutation_p.E678D|TFRC_ENST00000540528.1_3'UTR|TFRC_ENST00000535031.1_Missense_Mutation_p.E477D|TFRC_ENST00000392396.3_Missense_Mutation_p.E759D	NM_001128148.1	NP_001121620.1	P02786	TFR1_HUMAN	transferrin receptor	759	Ligand-binding.				cellular iron ion homeostasis (GO:0006879)|iron ion import (GO:0097286)|osteoclast differentiation (GO:0030316)|positive regulation of bone resorption (GO:0045780)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|coated pit (GO:0005905)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)|vesicle (GO:0031982)	double-stranded RNA binding (GO:0003725)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|transferrin receptor activity (GO:0004998)			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_cancers(143;1.94e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.36e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.17e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00233)	Gallium nitrate(DB05260)	ACATTTAAAACTCATTGTCAA	0.438			T	BCL6	NHL																																	ENST00000360110.4				Dom	yes		3	3q29	7037	T	"""transferrin receptor (p90, CD71)"""			L	BCL6		NHL		0				NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(2275-2277)gaG>gaT		transferrin receptor							90.0	83.0	85.0					3																	195778819		2203	4300	6503	SO:0001583	missense	7037				cellular iron ion homeostasis|endocytosis|interspecies interaction between organisms|proteolysis|transferrin transport|transmembrane transport	coated pit|endosome|integral to plasma membrane|melanosome	peptidase activity|transferrin receptor activity	g.chr3:195778819C>A	X01060	CCDS3312.1	3q29	2013-09-19	2013-09-19		ENSG00000072274	ENSG00000072274		"""CD molecules"""	11763	protein-coding gene	gene with protein product		190010	"""transferrin receptor (p90, CD71)"""				Standard	NM_003234		Approved	CD71, TFR1, p90	uc003fwa.4	P02786	OTTHUMG00000155714	ENST00000360110.4:c.2277G>T	3.37:g.195778819C>A	ENSP00000353224:p.Glu759Asp		Somatic				TFRC_ENST00000420415.1_Missense_Mutation_p.E678D|TFRC_ENST00000392396.3_Missense_Mutation_p.E759D|TFRC_ENST00000540528.1_3'UTR|TFRC_ENST00000535031.1_Missense_Mutation_p.E477D	p.E759D	NM_001128148.1	NP_001121620.1	WXS	Illumina GAIIx	Phase_I	P02786	TFR1_HUMAN	Epithelial(36;1.36e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.17e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00233)	19	2446	-	all_cancers(143;1.94e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		759			Ligand-binding.		D3DXB0|Q1HE24|Q59G55|Q9UCN0|Q9UCU5|Q9UDF9|Q9UK21	Missense_Mutation	SNP	ENST00000360110.4	37	c.2277G>T	CCDS3312.1	.	.	.	.	.	.	.	.	.	.	C	12.11	1.838828	0.32513	.	.	ENSG00000072274	ENST00000360110;ENST00000420415;ENST00000392396;ENST00000535031	T;T;T;T	0.58060	0.76;0.81;0.76;0.36	6.06	0.294	0.15747	.	0.348037	0.35320	N	0.003282	T	0.37265	0.0997	L	0.52364	1.645	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.14309	-1.0477	10	0.44086	T	0.13	-10.9423	1.8738	0.03214	0.1306:0.3389:0.1286:0.4019	.	759	P02786	TFR1_HUMAN	D	759;678;759;477	ENSP00000353224:E759D;ENSP00000390133:E678D;ENSP00000376197:E759D;ENSP00000437753:E477D	ENSP00000353224:E759D	E	-	3	2	TFRC	197263216	0.812000	0.29077	0.992000	0.48379	0.983000	0.72400	-0.091000	0.11146	0.095000	0.17434	0.655000	0.94253	GAG		0.438	TFRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341346.1			26	82	1	0	1.2476e-16	1	1.4543e-16	26	82				
BMX	660	broad.mit.edu	37	X	15540535	15540535	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chrX:15540535C>T	ENST00000357607.2	+	7	765	c.577C>T	c.(577-579)Caa>Taa	p.Q193*	BMX_ENST00000348343.6_Nonsense_Mutation_p.Q193*|BMX_ENST00000342014.6_Nonsense_Mutation_p.Q193*			P51813	BMX_HUMAN	BMX non-receptor tyrosine kinase	193					apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|response to stress (GO:0006950)|signal transduction (GO:0007165)	cytosol (GO:0005829)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|signal transducer activity (GO:0004871)	p.Q193K(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(14)|ovary(2)|urinary_tract(3)	30	Hepatocellular(33;0.183)					CACTCTAGCCCAATATGACAA	0.428																																						ENST00000357607.2																			1	Substitution - Missense(1)	p.Q193K(1)	lung(1)	breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(14)|ovary(2)|urinary_tract(3)	30						c.(577-579)Caa>Taa		BMX non-receptor tyrosine kinase							158.0	143.0	149.0					X																	15540535		2203	4300	6503	SO:0001587	stop_gained	660				cellular component disassembly involved in apoptosis|intracellular signal transduction|mesoderm development	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|signal transducer activity	g.chrX:15540535C>T	AF045459	CCDS14168.1	Xp22.2	2013-05-14			ENSG00000102010	ENSG00000102010		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	1079	protein-coding gene	gene with protein product	"""BTK-like on X chromosome"""	300101				7970727	Standard	NM_203281		Approved	ETK, PSCTK3	uc004cwx.4	P51813	OTTHUMG00000021180	ENST00000357607.2:c.577C>T	X.37:g.15540535C>T	ENSP00000350224:p.Gln193*		Somatic				BMX_ENST00000342014.6_Nonsense_Mutation_p.Q193*|BMX_ENST00000348343.6_Nonsense_Mutation_p.Q193*	p.Q193*			WXS	Illumina GAIIx	Phase_I	P51813	BMX_HUMAN			7	765	+	Hepatocellular(33;0.183)		193					A6NIH9|O60564|Q12871	Nonsense_Mutation	SNP	ENST00000357607.2	37	c.577C>T	CCDS14168.1	.	.	.	.	.	.	.	.	.	.	c	18.26	3.584873	0.65992	.	.	ENSG00000102010	ENST00000357607;ENST00000348343;ENST00000342014	.	.	.	3.45	2.54	0.30619	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05833	T	0.94	.	7.0294	0.24958	0.0:0.5809:0.4191:0.0	.	.	.	.	X	193	.	ENSP00000340082:Q193X	Q	+	1	0	BMX	15450456	0.002000	0.14202	0.001000	0.08648	0.049000	0.14656	0.792000	0.26929	1.342000	0.45619	0.597000	0.82753	CAA		0.428	BMX-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055877.1	NM_001721		11	275	0	0	0	1	0	11	275				
PELI1	57162	broad.mit.edu	37	2	64323337	64323337	+	Silent	SNP	T	T	C	rs374621766	byFrequency	TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr2:64323337T>C	ENST00000358912.4	-	6	1054	c.612A>G	c.(610-612)ggA>ggG	p.G204G		NM_020651.3	NP_065702.2	Q96FA3	PELI1_HUMAN	pellino E3 ubiquitin protein ligase 1	204					innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cytokine production (GO:0001819)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of toll-like receptor 3 signaling pathway (GO:0034141)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|protein K48-linked ubiquitination (GO:0070936)|response to dsRNA (GO:0043331)|response to lipopolysaccharide (GO:0032496)|Toll signaling pathway (GO:0008063)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)	cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|urinary_tract(1)	19						CTCTCCATATTCCAGGCTTGG	0.438																																						ENST00000358912.4																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|urinary_tract(1)	19						c.(610-612)ggA>ggG		pellino E3 ubiquitin protein ligase 1							171.0	156.0	161.0					2																	64323337		2203	4300	6503	SO:0001819	synonymous_variant	57162				innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol		g.chr2:64323337T>C		CCDS1876.1	2p13.3	2012-02-23	2012-02-23		ENSG00000197329	ENSG00000197329		"""Pellino homologs"""	8827	protein-coding gene	gene with protein product		614797	"""pellino (Drosophila) homolog 1"", ""pellino homolog 1 (Drosophila)"""			11306823, 16951688	Standard	NM_020651		Approved		uc002sct.4	Q96FA3	OTTHUMG00000129511	ENST00000358912.4:c.612A>G	2.37:g.64323337T>C			Somatic					p.G204G	NM_020651.3	NP_065702.2	WXS	Illumina GAIIx	Phase_I	Q96FA3	PELI1_HUMAN			6	1054	-			204					Q96SM0|Q9GZY5|Q9HCX0	Silent	SNP	ENST00000358912.4	37	c.612A>G	CCDS1876.1																																																																																				0.438	PELI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251686.1	NM_020651		78	72	0	0	0	1	0	78	72				
DMBT1	1755	broad.mit.edu	37	10	124380756	124380756	+	Missense_Mutation	SNP	G	G	A	rs111726992		TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr10:124380756G>A	ENST00000338354.3	+	41	5187	c.5081G>A	c.(5080-5082)cGg>cAg	p.R1694Q	DMBT1_ENST00000344338.3_Missense_Mutation_p.R1684Q|DMBT1_ENST00000368955.3_Missense_Mutation_p.R1684Q|DMBT1_ENST00000330163.4_Missense_Mutation_p.R1066Q|DMBT1_ENST00000368956.2_Missense_Mutation_p.R1066Q|DMBT1_ENST00000368909.3_Missense_Mutation_p.R1694Q|DMBT1_ENST00000359586.6_Intron			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	1694	SRCR 13. {ECO:0000255|PROSITE- ProRule:PRU00196}.				defense response to virus (GO:0051607)|epithelial cell differentiation (GO:0030855)|induction of bacterial agglutination (GO:0043152)|innate immune response (GO:0045087)|inner cell mass cell proliferation (GO:0001833)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of epithelial cell differentiation (GO:0030858)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|phagocytic vesicle membrane (GO:0030670)|proteinaceous extracellular matrix (GO:0005578)|zymogen granule membrane (GO:0042589)	calcium-dependent protein binding (GO:0048306)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|zymogen binding (GO:0035375)			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GGAAATGCCCGGTTTGGCCAG	0.617																																					Ovarian(182;93 2026 18125 22222 38972)	ENST00000338354.3																			0				breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72						c.(5080-5082)cGg>cAg		deleted in malignant brain tumors 1							148.0	150.0	150.0					10																	124380756		1964	4153	6117	SO:0001583	missense	1755				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding	g.chr10:124380756G>A		CCDS44490.1, CCDS44491.1, CCDS44492.1	10q25.3-q26.1	2008-08-01			ENSG00000187908	ENSG00000187908			2926	protein-coding gene	gene with protein product		601969				9288095, 17548659	Standard	NM_004406		Approved	GP340, muclin	uc001lgk.1	Q9UGM3	OTTHUMG00000019185	ENST00000338354.3:c.5081G>A	10.37:g.124380756G>A	ENSP00000342210:p.Arg1694Gln		Somatic				DMBT1_ENST00000368955.3_Missense_Mutation_p.R1684Q|DMBT1_ENST00000368956.2_Missense_Mutation_p.R1066Q|DMBT1_ENST00000344338.3_Missense_Mutation_p.R1684Q|DMBT1_ENST00000368909.3_Missense_Mutation_p.R1694Q|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000330163.4_Missense_Mutation_p.R1066Q	p.R1694Q			WXS	Illumina GAIIx	Phase_I	Q9UGM3	DMBT1_HUMAN			41	5187	+		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)	1694			SRCR 13.		A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	Missense_Mutation	SNP	ENST00000338354.3	37	c.5081G>A		.	.	.	.	.	.	.	.	.	.	-	4.526	0.097660	0.08681	.	.	ENSG00000187908	ENST00000338354;ENST00000368915;ENST00000341278;ENST00000368953;ENST00000339871;ENST00000368942;ENST00000327438;ENST00000344338;ENST00000339712;ENST00000330163;ENST00000368909;ENST00000368955;ENST00000368956	T;T;T;T;T;T	0.44482	0.92;0.92;0.92;0.92;0.92;0.92	3.79	-2.02	0.07388	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	3.705740	0.01089	N	0.005157	T	0.30448	0.0765	N	0.16201	0.385	0.09310	N	0.999999	P;P;P;B;B;P	0.50819	0.939;0.849;0.71;0.373;0.04;0.781	P;B;B;B;B;B	0.47162	0.54;0.074;0.14;0.095;0.009;0.364	T	0.14200	-1.0481	10	0.29301	T	0.29	.	5.6923	0.17837	0.4958:0.0:0.375:0.1292	.	1694;943;1823;1066;1684;1694	Q9UGM3-5;Q9UGM3-8;Q9UGM3-6;Q9UGM3-2;Q9UGM3-3;Q9UGM3	.;.;.;.;.;DMBT1_HUMAN	Q	1694;1823;1694;1694;1694;1694;1066;1684;1066;1066;1694;1684;1066	ENSP00000342210:R1694Q;ENSP00000343175:R1684Q;ENSP00000327747:R1066Q;ENSP00000357905:R1694Q;ENSP00000357951:R1684Q;ENSP00000357952:R1066Q	ENSP00000331522:R1066Q	R	+	2	0	DMBT1	124370746	0.000000	0.05858	0.028000	0.17463	0.177000	0.22998	-2.203000	0.01234	-0.472000	0.06881	0.461000	0.40582	CGG		0.617	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050792.2	NM_004406		7	340	0	0	0	1	0	7	340				
ZNF654	55279	broad.mit.edu	37	3	88189280	88189280	+	Missense_Mutation	SNP	A	A	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr3:88189280A>T	ENST00000309495.5	+	1	1027	c.820A>T	c.(820-822)Aat>Tat	p.N274Y	CGGBP1_ENST00000462901.1_Intron	NM_018293.2	NP_060763.2	Q8IZM8	ZN654_HUMAN	zinc finger protein 654	274					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(3)	12		Lung NSC(201;0.0283)		UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661)		TTTGCATTTTAATTGCAACGA	0.373																																						ENST00000309495.5																			0				breast(2)|endometrium(1)|large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(3)	12						c.(820-822)Aat>Tat		zinc finger protein 654							95.0	88.0	90.0					3																	88189280		1855	4097	5952	SO:0001583	missense	55279				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:88189280A>T	AF543494	CCDS46874.1	3p11.1	2005-01-10			ENSG00000175105	ENSG00000175105			25612	protein-coding gene	gene with protein product							Standard	NM_018293		Approved	FLJ10997, FLJ21142	uc003dqv.3	Q8IZM8	OTTHUMG00000159097	ENST00000309495.5:c.820A>T	3.37:g.88189280A>T	ENSP00000312141:p.Asn274Tyr		Somatic				CGGBP1_ENST00000462901.1_Intron	p.N274Y	NM_018293.2	NP_060763.2	WXS	Illumina GAIIx	Phase_I	Q8IZM8	ZN654_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661)	1	1027	+		Lung NSC(201;0.0283)	274					Q9H791|Q9NV14	Missense_Mutation	SNP	ENST00000309495.5	37	c.820A>T	CCDS46874.1	.	.	.	.	.	.	.	.	.	.	A	15.42	2.826948	0.50739	.	.	ENSG00000175105	ENST00000309495	T	0.37058	1.22	5.87	5.87	0.94306	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.558947	0.20261	N	0.095870	T	0.37972	0.1023	L	0.47016	1.485	0.30687	N	0.751717	D	0.62365	0.991	P	0.47744	0.556	T	0.50792	-0.8786	10	0.72032	D	0.01	.	9.8742	0.41194	0.9245:0.0:0.0755:0.0	.	274	Q8IZM8	ZN654_HUMAN	Y	274	ENSP00000312141:N274Y	ENSP00000312141:N274Y	N	+	1	0	ZNF654	88271970	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.579000	0.60936	2.248000	0.74166	0.533000	0.62120	AAT		0.373	ZNF654-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353285.2	NM_018293		4	155	0	0	0	1	0	4	155				
TTC3	7267	broad.mit.edu	37	21	38568017	38568017	+	Silent	SNP	C	C	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr21:38568017C>T	ENST00000399017.2	+	42	8006	c.5259C>T	c.(5257-5259)ggC>ggT	p.G1753G	TTC3_ENST00000354749.2_Silent_p.G1753G|TTC3_ENST00000355666.1_Silent_p.G1753G|TTC3_ENST00000479930.1_3'UTR|TTC3-AS1_ENST00000424733.1_RNA	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	1753					negative regulation of cell morphogenesis involved in differentiation (GO:0010771)|negative regulation of neuron differentiation (GO:0045665)|protein K48-linked ubiquitination (GO:0070936)|ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|vacuole (GO:0005773)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				GCGACGATGGCCAAGGGCTTG	0.557																																					Ovarian(38;194 1649 35661)	ENST00000399017.2																			0				breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75						c.(5257-5259)ggC>ggT		tetratricopeptide repeat domain 3							202.0	206.0	205.0					21																	38568017		2203	4300	6503	SO:0001819	synonymous_variant	7267				protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr21:38568017C>T	D84296	CCDS13651.1	21q22.2	2013-01-11			ENSG00000182670	ENSG00000182670		"""RING-type (C3HC4) zinc fingers"", ""Tetratricopeptide (TTC) repeat domain containing"""	12393	protein-coding gene	gene with protein product		602259				8947847	Standard	NM_003316		Approved	TPRD, TPRDI, DCRR1, TPRDII, TPRDIII, RNF105	uc002yvz.3	P53804	OTTHUMG00000086654	ENST00000399017.2:c.5259C>T	21.37:g.38568017C>T			Somatic				TTC3_ENST00000355666.1_Silent_p.G1753G|TTC3_ENST00000354749.2_Silent_p.G1753G|TTC3_ENST00000479930.1_3'UTR	p.G1753G	NM_003316.3	NP_003307.3	WXS	Illumina GAIIx	Phase_I	P53804	TTC3_HUMAN			42	8006	+		Myeloproliferative disorder(46;0.0412)	1753					A8K7H7|B2RPA7|D3DSG9|D3DSH2|D3DSH3|O60767|P78476|P78477|Q569I2|Q6P578|Q9UEK4	Silent	SNP	ENST00000399017.2	37	c.5259C>T	CCDS13651.1	.	.	.	.	.	.	.	.	.	.	C	7.621	0.676920	0.14841	.	.	ENSG00000182670	ENST00000428693	.	.	.	4.72	-2.78	0.05859	.	.	.	.	.	T	0.18002	0.0432	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.24012	-1.0172	4	.	.	.	-0.5688	0.9568	0.01387	0.1615:0.2926:0.1494:0.3965	.	.	.	.	S	45	.	.	P	+	1	0	TTC3	37489887	0.000000	0.05858	0.000000	0.03702	0.156000	0.22039	-1.021000	0.03615	-0.686000	0.05170	-0.471000	0.05019	CCA		0.557	TTC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194776.1			4	456	0	0	0	1	0	4	456				
U2SURP	23350	broad.mit.edu	37	3	142772557	142772557	+	Missense_Mutation	SNP	A	A	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr3:142772557A>C	ENST00000473835.2	+	26	2785	c.2695A>C	c.(2695-2697)Aag>Cag	p.K899Q	U2SURP_ENST00000493598.2_Missense_Mutation_p.K898Q|U2SURP_ENST00000397933.2_Missense_Mutation_p.K490Q	NM_001080415.1	NP_001073884.1	O15042	SR140_HUMAN	U2 snRNP-associated SURP domain containing	899	Glu-rich.				RNA processing (GO:0006396)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	31						agaaagagacaagaaagataa	0.303																																						ENST00000397933.2																			0				NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	31						c.(1468-1470)Aag>Cag		U2 snRNP-associated SURP domain containing							72.0	67.0	68.0					3																	142772557		1813	4073	5886	SO:0001583	missense	23350				RNA processing	nucleus	nucleotide binding|RNA binding	g.chr3:142772557A>C	BK000564	CCDS46928.1	3q23	2013-02-12			ENSG00000163714	ENSG00000163714		"""RNA binding motif (RRM) containing"""	30855	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein a"", ""Ser/Arg-rich domain protein, 140 kDa"", ""U2 associated SR140 protein"""					9205841, 12234937	Standard	NM_001080415		Approved	fSAPa, SR140	uc003evh.1	O15042	OTTHUMG00000159323	ENST00000473835.2:c.2695A>C	3.37:g.142772557A>C	ENSP00000418563:p.Lys899Gln		Somatic				U2SURP_ENST00000473835.2_Missense_Mutation_p.K899Q|U2SURP_ENST00000493598.2_Missense_Mutation_p.K898Q	p.K490Q			WXS	Illumina GAIIx	Phase_I	O15042	SR140_HUMAN			25	2750	+			899					A0PJ60|Q0D2M1|Q2NKQ7|Q9BR70	Missense_Mutation	SNP	ENST00000473835.2	37	c.1468A>C	CCDS46928.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	14.95|14.95	2.688689|2.688689	0.48097|0.48097	.|.	.|.	ENSG00000163714|ENSG00000163714	ENST00000473835;ENST00000319822;ENST00000397933;ENST00000493598;ENST00000480029|ENST00000467348	T;T;T;D|.	0.88586|.	0.97;0.97;0.97;-2.4|.	6.02|6.02	6.02|6.02	0.97574|0.97574	.|.	0.211953|.	0.53938|.	D|.	0.000048|.	T|T	0.39886|0.39886	0.1095|0.1095	N|N	0.08118|0.08118	0|0	0.58432|0.58432	D|D	0.999999|0.999999	P;P;P|.	0.48294|.	0.908;0.769;0.851|.	P;P;P|.	0.61397|.	0.888;0.888;0.775|.	T|T	0.36335|0.36335	-0.9752|-0.9752	10|5	0.32370|.	T|.	0.25|.	-2.4882|-2.4882	15.3687|15.3687	0.74545|0.74545	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	898;490;899|.	O15042-2;O15042-3;O15042|.	.;.;SR140_HUMAN|.	Q|P	899;899;490;898;466|218	ENSP00000418563:K899Q;ENSP00000381027:K490Q;ENSP00000422011:K898Q;ENSP00000417441:K466Q|.	ENSP00000322376:K899Q|.	K|Q	+|+	1|2	0|0	U2SURP|U2SURP	144255247|144255247	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.998000|0.998000	0.95712|0.95712	4.899000|4.899000	0.63245|0.63245	2.311000|2.311000	0.77944|0.77944	0.533000|0.533000	0.62120|0.62120	AAG|CAA		0.303	U2SURP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354603.2	NM_001080415		3	100	0	0	0	1	0	3	100				
FCRLB	127943	broad.mit.edu	37	1	161693219	161693219	+	Missense_Mutation	SNP	C	C	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr1:161693219C>T	ENST00000367948.2	+	5	330	c.115C>T	c.(115-117)Cgg>Tgg	p.R39W	FCRLB_ENST00000367944.3_Missense_Mutation_p.R32W|FCRLB_ENST00000367946.3_Missense_Mutation_p.R39W|FCRLB_ENST00000392158.1_Missense_Mutation_p.R39W|FCRLB_ENST00000367945.1_Missense_Mutation_p.R32W|FCRLB_ENST00000336830.5_Missense_Mutation_p.R39W			Q6BAA4	FCRLB_HUMAN	Fc receptor-like B	39	Ig-like C2-type 1.				negative regulation of immune response (GO:0050777)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|skin(1)	17	all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00634)			CAAAGGGGAGCGGGTAACTTT	0.557																																						ENST00000367948.2																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|skin(1)	17						c.(115-117)Cgg>Tgg		Fc receptor-like B							135.0	133.0	133.0					1																	161693219		2203	4300	6503	SO:0001583	missense	127943					endoplasmic reticulum		g.chr1:161693219C>T	AY670683	CCDS30927.1, CCDS72962.1, CCDS72963.1, CCDS72964.1, CCDS72965.1	1q23.3	2013-01-11	2006-09-26	2006-09-26	ENSG00000162746	ENSG00000162746		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	26431	protein-coding gene	gene with protein product		609251	"""Fc receptor-like and mucin-like 2"""	FCRLM2		15676285	Standard	NM_001288829		Approved	FLJ31052, FCRL2, FREB-2, FCRLY	uc001gbi.3	Q6BAA4	OTTHUMG00000133629	ENST00000367948.2:c.115C>T	1.37:g.161693219C>T	ENSP00000356925:p.Arg39Trp		Somatic				FCRLB_ENST00000336830.5_Missense_Mutation_p.R39W|FCRLB_ENST00000392158.1_Missense_Mutation_p.R39W|FCRLB_ENST00000367944.3_Missense_Mutation_p.R32W|FCRLB_ENST00000367945.1_Missense_Mutation_p.R32W|FCRLB_ENST00000367946.3_Missense_Mutation_p.R39W	p.R39W			WXS	Illumina GAIIx	Phase_I	Q6BAA4	FCRLB_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00634)		5	330	+	all_hematologic(112;0.0359)		39			Ig-like C2-type 1.		A2A3J5|A2A3J7|Q5VXA6|Q6BAA0|Q6BAA1|Q6BAA2|Q6BAA3|Q8IXZ7	Missense_Mutation	SNP	ENST00000367948.2	37	c.115C>T	CCDS30927.1	.	.	.	.	.	.	.	.	.	.	C	18.01	3.528542	0.64860	.	.	ENSG00000162746	ENST00000367948;ENST00000367946;ENST00000367945;ENST00000336830;ENST00000367944;ENST00000392158	T;T;T;T;T;T	0.13089	2.62;2.62;2.62;2.62;2.62;2.62	5.76	1.57	0.23409	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.159042	0.29699	N	0.011426	T	0.15435	0.0372	L	0.52573	1.65	0.30560	N	0.76456	D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;0.998	D;D;P;D;P	0.66084	0.941;0.928;0.9;0.928;0.902	T	0.03662	-1.1015	10	0.87932	D	0	.	13.0455	0.58924	0.592:0.408:0.0:0.0	.	32;32;39;39;39	Q6BAA4-3;Q6BAA4-5;Q6BAA4-2;Q6BAA4-4;Q6BAA4	.;.;.;.;FCRLB_HUMAN	W	39;39;32;39;32;39	ENSP00000356925:R39W;ENSP00000356923:R39W;ENSP00000356922:R32W;ENSP00000338598:R39W;ENSP00000356921:R32W;ENSP00000375999:R39W	ENSP00000338598:R39W	R	+	1	2	FCRLB	159959843	0.985000	0.35326	0.529000	0.27951	0.763000	0.43281	-0.137000	0.10389	0.019000	0.15079	0.655000	0.94253	CGG		0.557	FCRLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083585.1	NM_152378		4	229	0	0	0	1	0	4	229				
FREM2	341640	broad.mit.edu	37	13	39265811	39265811	+	Silent	SNP	C	C	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr13:39265811C>T	ENST00000280481.7	+	1	4546	c.4330C>T	c.(4330-4332)Cta>Tta	p.L1444L		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	1444					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		AACAGACCTACTAAGCACTAG	0.473																																						ENST00000280481.7																			0				NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148						c.(4330-4332)Cta>Tta		FRAS1 related extracellular matrix protein 2							146.0	118.0	128.0					13																	39265811		2203	4300	6503	SO:0001819	synonymous_variant	341640				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr13:39265811C>T	BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.4330C>T	13.37:g.39265811C>T			Somatic					p.L1444L	NM_207361.4	NP_997244.3	WXS	Illumina GAIIx	Phase_I	Q5SZK8	FREM2_HUMAN		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)	1	4546	+		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)	1444					Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Silent	SNP	ENST00000280481.7	37	c.4330C>T	CCDS31960.1																																																																																				0.473	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361		5	83	0	0	0	1	0	5	83				
FRG1B	284802	broad.mit.edu	37	20	29628245	29628245	+	Missense_Mutation	SNP	G	G	A			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr20:29628245G>A	ENST00000278882.3	+	6	627	c.247G>A	c.(247-249)Gcc>Acc	p.A83T	FRG1B_ENST00000358464.4_Missense_Mutation_p.A83T|FRG1B_ENST00000439954.2_Missense_Mutation_p.A88T			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	83								p.A83T(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGCTTTGTTGGCCTCAAATAG	0.353																																						ENST00000278882.3																			2	Substitution - Missense(2)	p.A83T(2)	urinary_tract(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(247-249)Gcc>Acc																																						SO:0001583	missense	284802							g.chr20:29628245G>A			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.247G>A	20.37:g.29628245G>A	ENSP00000278882:p.Ala83Thr		Somatic				FRG1B_ENST00000358464.4_Missense_Mutation_p.A83T|FRG1B_ENST00000439954.2_Missense_Mutation_p.A88T	p.A83T			WXS	Illumina GAIIx	Phase_I					6	627	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.247G>A		.	.	.	.	.	.	.	.	.	.	g	18.80	3.700173	0.68501	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.50277	0.75	2.08	2.08	0.27032	Actin cross-linking (1);	0.055129	0.64402	D	0.000001	T	0.40473	0.1118	.	.	.	0.51482	D	0.99992	B;P	0.40875	0.016;0.731	B;P	0.45558	0.085;0.485	T	0.12502	-1.0545	9	0.21540	T	0.41	.	10.2211	0.43198	0.0:0.0:1.0:0.0	.	88;83	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	T	83;88;83	ENSP00000408863:A88T	ENSP00000278882:A83T	A	+	1	0	FRG1B	28241906	1.000000	0.71417	1.000000	0.80357	0.609000	0.37215	8.494000	0.90477	1.475000	0.48197	0.423000	0.28283	GCC		0.353	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		5	282	0	0	0	1	0	5	282				
LMNB1	4001	broad.mit.edu	37	5	126156699	126156699	+	Missense_Mutation	SNP	G	G	A			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr5:126156699G>A	ENST00000261366.5	+	7	1619	c.1258G>A	c.(1258-1260)Gat>Aat	p.D420N	LMNB1_ENST00000460265.1_3'UTR	NM_001198557.1|NM_005573.3	NP_001185486.1|NP_005564.1	P20700	LMNB1_HUMAN	lamin B1	420	Tail.				apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	lamin filament (GO:0005638)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear inner membrane (GO:0005637)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(142;0.103)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.033)|OV - Ovarian serous cystadenocarcinoma(64;0.0398)|all cancers(49;0.0903)		GAAGAGGGTTGATGTGGAAGA	0.473																																						ENST00000261366.5																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(1258-1260)Gat>Aat		lamin B1							159.0	133.0	142.0					5																	126156699		2203	4300	6503	SO:0001583	missense	4001				cellular component disassembly involved in apoptosis	lamin filament|nuclear inner membrane	protein binding|structural molecule activity	g.chr5:126156699G>A	L37737	CCDS4140.1	5q23.2	2013-01-16			ENSG00000113368	ENSG00000113368		"""Intermediate filaments type V, lamins"""	6637	protein-coding gene	gene with protein product		150340				7557986, 8838815	Standard	NM_005573		Approved		uc003kud.2	P20700	OTTHUMG00000128969	ENST00000261366.5:c.1258G>A	5.37:g.126156699G>A	ENSP00000261366:p.Asp420Asn		Somatic				LMNB1_ENST00000460265.1_3'UTR	p.D420N	NM_001198557.1|NM_005573.3	NP_001185486.1|NP_005564.1	WXS	Illumina GAIIx	Phase_I	P20700	LMNB1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.033)|OV - Ovarian serous cystadenocarcinoma(64;0.0398)|all cancers(49;0.0903)	7	1619	+		all_cancers(142;0.103)|Prostate(80;0.081)	420			Tail.		B2R6J6|Q3SYN7|Q96EI6	Missense_Mutation	SNP	ENST00000261366.5	37	c.1258G>A	CCDS4140.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.888085	0.91814	.	.	ENSG00000113368	ENST00000261366	D	0.98280	-4.84	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	D	0.95188	0.8440	L	0.27053	0.805	0.80722	D	1	B	0.32829	0.386	B	0.24269	0.052	D	0.93623	0.6949	10	0.19590	T	0.45	.	20.4008	0.98991	0.0:0.0:1.0:0.0	.	420	P20700	LMNB1_HUMAN	N	420	ENSP00000261366:D420N	ENSP00000261366:D420N	D	+	1	0	LMNB1	126184598	1.000000	0.71417	0.366000	0.25914	0.954000	0.61252	5.427000	0.66483	2.826000	0.97356	0.655000	0.94253	GAT		0.473	LMNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250956.2	NM_005573		16	70	0	0	0	1	0	16	70				
ZFYVE27	118813	broad.mit.edu	37	10	99498404	99498404	+	Missense_Mutation	SNP	C	C	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr10:99498404C>T	ENST00000393677.4	+	2	374	c.170C>T	c.(169-171)gCa>gTa	p.A57V	ZFYVE27_ENST00000370613.3_Missense_Mutation_p.A57V|ZFYVE27_ENST00000357540.4_Missense_Mutation_p.A57V|ZFYVE27_ENST00000453958.2_Missense_Mutation_p.A57V|ZFYVE27_ENST00000370610.3_Intron|ZFYVE27_ENST00000356257.4_Missense_Mutation_p.A57V|ZFYVE27_ENST00000337540.7_Missense_Mutation_p.A57V|ZFYVE27_ENST00000359980.3_Missense_Mutation_p.A57V	NM_144588.6	NP_653189.3	Q5T4F4	ZFY27_HUMAN	zinc finger, FYVE domain containing 27	57	Necessary for interaction with RAB11A and function in neurite outgrowth.				cell death (GO:0008219)|neuron projection development (GO:0031175)|neurotrophin TRK receptor signaling pathway (GO:0048011)|protein localization to plasma membrane (GO:0072659)	axon (GO:0030424)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|recycling endosome membrane (GO:0055038)	metal ion binding (GO:0046872)			endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	8		Colorectal(252;0.0846)		Epithelial(162;7.08e-10)|all cancers(201;5.18e-08)		TTGAAGGATGCAGGTGATGGT	0.507																																						ENST00000393677.4																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	8						c.(169-171)gCa>gTa		zinc finger, FYVE domain containing 27							130.0	129.0	130.0					10																	99498404		2203	4300	6503	SO:0001583	missense	118813				cell death|nerve growth factor receptor signaling pathway|neuron projection development|protein localization in plasma membrane	axon|dendrite|endoplasmic reticulum membrane|growth cone membrane|integral to membrane|recycling endosome membrane	metal ion binding|protein binding	g.chr10:99498404C>T	BC030621	CCDS31263.1, CCDS31264.1, CCDS53562.1, CCDS53563.1, CCDS53564.1, CCDS53565.1	10q24.2	2013-09-11			ENSG00000155256	ENSG00000155256		"""Zinc fingers, FYVE domain containing"""	26559	protein-coding gene	gene with protein product	"""protrudin"""	610243				14702039	Standard	NM_144588		Approved	FLJ32919, SPG33	uc001kol.2	Q5T4F4	OTTHUMG00000018867	ENST00000393677.4:c.170C>T	10.37:g.99498404C>T	ENSP00000377282:p.Ala57Val		Somatic				ZFYVE27_ENST00000337540.7_Missense_Mutation_p.A57V|ZFYVE27_ENST00000359980.3_Missense_Mutation_p.A57V|ZFYVE27_ENST00000357540.4_Missense_Mutation_p.A57V|ZFYVE27_ENST00000453958.2_Missense_Mutation_p.A57V|ZFYVE27_ENST00000356257.4_Missense_Mutation_p.A57V|ZFYVE27_ENST00000370610.3_Intron|ZFYVE27_ENST00000370613.3_Missense_Mutation_p.A57V	p.A57V	NM_144588.6	NP_653189.3	WXS	Illumina GAIIx	Phase_I	Q5T4F4	ZFY27_HUMAN		Epithelial(162;7.08e-10)|all cancers(201;5.18e-08)	2	374	+		Colorectal(252;0.0846)	57			Necessary for interaction with RAB11A and function in neurite outgrowth.		B7Z3S0|B7Z404|B7Z626|G8JLC3|G8JLF0|J3KP98|Q5T4F1|Q5T4F2|Q5T4F3|Q8N1K0|Q8N6D6|Q8NCA0|Q8NDE4|Q96M08	Missense_Mutation	SNP	ENST00000393677.4	37	c.170C>T	CCDS31263.1	.	.	.	.	.	.	.	.	.	.	C	19.07	3.755404	0.69648	.	.	ENSG00000155256	ENST00000337540;ENST00000357540;ENST00000370613;ENST00000393677;ENST00000453958;ENST00000359980;ENST00000356257;ENST00000423811	T;T;T;T;T;T	0.48836	0.8;1.5;1.46;1.49;1.5;1.52	5.04	5.04	0.67666	.	0.115208	0.64402	D	0.000018	T	0.38852	0.1056	L	0.29908	0.895	0.80722	D	1	B;B;B;B;B;B	0.31859	0.232;0.176;0.154;0.154;0.343;0.096	B;B;B;B;B;B	0.34931	0.094;0.016;0.054;0.054;0.192;0.024	T	0.40001	-0.9586	10	0.72032	D	0.01	-11.3773	12.4805	0.55839	0.0:0.9179:0.0:0.0821	.	57;57;57;57;57;57	B7Z404;B7Z626;Q5T4F4-5;Q5T4F4-3;Q5T4F4-2;Q5T4F4	.;.;.;.;.;ZFY27_HUMAN	V	57;57;57;57;57;57;57;35	ENSP00000337993:A57V;ENSP00000377282:A57V;ENSP00000401580:A57V;ENSP00000353069:A57V;ENSP00000348593:A57V;ENSP00000409594:A35V	ENSP00000337993:A57V	A	+	2	0	ZFYVE27	99488394	0.986000	0.35501	1.000000	0.80357	0.996000	0.88848	3.424000	0.52764	2.331000	0.79229	0.561000	0.74099	GCA		0.507	ZFYVE27-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049745.2	NM_144588		6	372	0	0	0	1	0	6	372				
VWA2	340706	broad.mit.edu	37	10	116042303	116042303	+	Missense_Mutation	SNP	G	G	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr10:116042303G>T	ENST00000392982.3	+	9	1112	c.862G>T	c.(862-864)Gcc>Tcc	p.A288S	VWA2_ENST00000603594.1_Missense_Mutation_p.A288S			Q5GFL6	VWA2_HUMAN	von Willebrand factor A domain containing 2	288					calcium-independent cell-matrix adhesion (GO:0007161)|protein homooligomerization (GO:0051260)|regulation of insulin receptor signaling pathway (GO:0046626)	basement membrane (GO:0005604)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	identical protein binding (GO:0042802)			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Epithelial(162;0.036)|all cancers(201;0.0793)		AACCCACCCTGCCACCTGCTA	0.493																																						ENST00000603594.1																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26						c.(862-864)Gcc>Tcc		von Willebrand factor A domain containing 2							121.0	116.0	118.0					10																	116042303		2203	4300	6503	SO:0001583	missense	340706					extracellular region		g.chr10:116042303G>T	AK127756	CCDS7589.1, CCDS7589.2	10q25.3	2009-11-06			ENSG00000165816	ENSG00000165816			24709	protein-coding gene	gene with protein product						15580307, 14506275	Standard	NM_001272046		Approved	FLJ45857, FLJ16213, CCSP-2, AMACO, NET42	uc001lbl.2	Q5GFL6	OTTHUMG00000019082	ENST00000392982.3:c.862G>T	10.37:g.116042303G>T	ENSP00000376708:p.Ala288Ser		Somatic				VWA2_ENST00000392982.3_Missense_Mutation_p.A288S	p.A288S	NM_001272046.1	NP_001258975.1	WXS	Illumina GAIIx	Phase_I	Q5GFL6	VWA2_HUMAN		Epithelial(162;0.036)|all cancers(201;0.0793)	9	1183	+			288					A1A5D4|B5MDJ8|Q6ZS39|Q6ZWJ7|Q708C5|Q70UZ8	Missense_Mutation	SNP	ENST00000392982.3	37	c.862G>T		.	.	.	.	.	.	.	.	.	.	G	1.743	-0.491319	0.04322	.	.	ENSG00000165816	ENST00000392982;ENST00000298715	T	0.67698	-0.28	5.66	-1.79	0.07932	.	0.376539	0.29185	N	0.012896	T	0.48768	0.1518	L	0.52364	1.645	0.18873	N	0.999989	B;B	0.18863	0.018;0.031	B;B	0.17098	0.007;0.017	T	0.27123	-1.0083	10	0.16420	T	0.52	.	4.2937	0.10890	0.4511:0.0:0.2903:0.2586	.	288;288	Q5GFL6;Q5GFL6-2	VWA2_HUMAN;.	S	288	ENSP00000376708:A288S	ENSP00000298715:A288S	A	+	1	0	VWA2	116032293	0.059000	0.20769	0.027000	0.17364	0.023000	0.10783	0.228000	0.17814	-0.397000	0.07691	-1.028000	0.02416	GCC		0.493	VWA2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050456.3	NM_198496		5	107	1	0	0.00307968	1	0.00322711	5	107				
MACF1	23499	broad.mit.edu	37	1	39916725	39916725	+	Splice_Site	SNP	C	C	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr1:39916725C>T	ENST00000372915.3	+	84	20044	c.19957C>T	c.(19957-19959)Cag>Tag	p.Q6653*	MACF1_ENST00000289893.4_Splice_Site_p.Q5197*|MACF1_ENST00000545844.1_Splice_Site_p.Q4695*|MACF1_ENST00000317713.7_Splice_Site_p.Q4695*|MACF1_ENST00000564288.1_Splice_Site_p.Q6754*|MACF1_ENST00000567887.1_Splice_Site_p.Q6791*|MACF1_ENST00000539005.1_Splice_Site_p.Q4565*|MACF1_ENST00000361689.2_Splice_Site_p.Q4695*			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	6653					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			ATTTCTCAGGCAGCACAAGTT	0.473																																						ENST00000564288.1																			0				breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203						c.e85-1		microtubule-actin crosslinking factor 1							162.0	156.0	158.0					1																	39916725		2203	4300	6503	SO:0001630	splice_region_variant	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39916725C>T	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.19956-1C>T	1.37:g.39916725C>T			Somatic				MACF1_ENST00000545844.1_Splice_Site_p.Q4695_splice|MACF1_ENST00000372915.3_Splice_Site_p.Q6653_splice|MACF1_ENST00000317713.7_Splice_Site_p.Q4695_splice|MACF1_ENST00000567887.1_Splice_Site_p.Q6791_splice|MACF1_ENST00000361689.2_Splice_Site_p.Q4695_splice|MACF1_ENST00000539005.1_Splice_Site_p.Q4565_splice|MACF1_ENST00000289893.4_Splice_Site_p.Q5197_splice	p.Q6754_splice			WXS	Illumina GAIIx	Phase_I	Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		85	21037	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	6761					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Splice_Site	SNP	ENST00000372915.3	37	c.20258_splice		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	53|53	20.177866|20.177866	0.99928|0.99928	.|.	.|.	ENSG00000127603|ENSG00000127603	ENST00000372925|ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000289893	.|.	.|.	.|.	6.16|6.16	6.16|6.16	0.99307|0.99307	.|.	.|0.000000	.|0.64402	.|D	.|0.000014	D|.	0.82421|.	0.5033|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.82744|.	-0.0306|.	4|.	.|0.87932	.|D	.|0	.|.	20.8598|20.8598	0.99761|0.99761	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	V|X	3698|4695;6653;4695;4695;4565;5197	.|.	.|ENSP00000289893:Q5197X	A|Q	+|+	2|1	0|0	MACF1|MACF1	39689312|39689312	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	7.782000|7.782000	0.85680|0.85680	2.937000|2.937000	0.99478|0.99478	0.650000|0.650000	0.86243|0.86243	GCA|CAG		0.473	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044	Nonsense_Mutation	4	207	0	0	0	1	0	4	207				
BCORL1	63035	broad.mit.edu	37	X	129189922	129189922	+	Silent	SNP	C	C	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chrX:129189922C>T	ENST00000218147.7	+	13	5144	c.4947C>T	c.(4945-4947)acC>acT	p.T1649T	BCORL1_ENST00000540052.1_Silent_p.T1649T|BCORL1_ENST00000359304.2_Silent_p.T1519T|BCORL1_ENST00000303743.5_Silent_p.T1723T			Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	1649					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						TTGAAATCACCACCATGCCCA	0.592																																						ENST00000540052.1																			0				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						c.(4945-4947)acC>acT		BCL6 corepressor-like 1							115.0	113.0	114.0					X																	129189922		2203	4300	6503	SO:0001819	synonymous_variant	63035				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chrX:129189922C>T	AL136450	CCDS14616.1	Xq25-q26.1	2014-09-17	2010-06-10		ENSG00000085185	ENSG00000085185		"""Ankyrin repeat domain containing"""	25657	protein-coding gene	gene with protein product		300688	"""chromosome X open reading frame 10"", ""BCL6 co-repressor-like 1"""	CXorf10			Standard	NM_021946		Approved	FLJ11362	uc022cdu.1	Q5H9F3	OTTHUMG00000022379	ENST00000218147.7:c.4947C>T	X.37:g.129189922C>T			Somatic				BCORL1_ENST00000218147.7_Silent_p.T1649T|BCORL1_ENST00000303743.5_Silent_p.T1723T|BCORL1_ENST00000359304.2_Silent_p.T1519T	p.T1649T	NM_021946.4	NP_068765.3	WXS	Illumina GAIIx	Phase_I	Q5H9F3	BCORL_HUMAN			12	4991	+			1649					B5MDQ8|Q5H9F2|Q5H9F4|Q6ZVE0|Q8TEN3|Q9Y528	Silent	SNP	ENST00000218147.7	37	c.4947C>T	CCDS14616.1																																																																																				0.592	BCORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058223.1	NM_021946		4	295	0	0	0	1	0	4	295				
MACF1	23499	broad.mit.edu	37	1	39889745	39889745	+	Missense_Mutation	SNP	C	C	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr1:39889745C>T	ENST00000372915.3	+	60	16297	c.16210C>T	c.(16210-16212)Ctt>Ttt	p.L5404F	MACF1_ENST00000289893.4_Missense_Mutation_p.L3839F|MACF1_ENST00000545844.1_Missense_Mutation_p.L3337F|MACF1_ENST00000317713.7_Missense_Mutation_p.L3337F|MACF1_ENST00000564288.1_Missense_Mutation_p.L5399F|MACF1_ENST00000567887.1_Missense_Mutation_p.L5436F|MACF1_ENST00000539005.1_Missense_Mutation_p.L3316F|MACF1_ENST00000361689.2_Missense_Mutation_p.L3337F			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	5404					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AGTAGACATGCTTCAAGCAGA	0.443																																						ENST00000564288.1																			0				breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203						c.(16195-16197)Ctt>Ttt		microtubule-actin crosslinking factor 1							76.0	76.0	76.0					1																	39889745		2203	4300	6503	SO:0001583	missense	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39889745C>T	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.16210C>T	1.37:g.39889745C>T	ENSP00000362006:p.Leu5404Phe		Somatic				MACF1_ENST00000545844.1_Missense_Mutation_p.L3337F|MACF1_ENST00000372915.3_Missense_Mutation_p.L5404F|MACF1_ENST00000317713.7_Missense_Mutation_p.L3337F|MACF1_ENST00000567887.1_Missense_Mutation_p.L5436F|MACF1_ENST00000361689.2_Missense_Mutation_p.L3337F|MACF1_ENST00000539005.1_Missense_Mutation_p.L3316F|MACF1_ENST00000289893.4_Missense_Mutation_p.L3839F	p.L5399F			WXS	Illumina GAIIx	Phase_I	Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		61	16972	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	5404					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37	c.16195C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.2|26.2	4.710728|4.710728	0.89112|0.89112	.|.	.|.	ENSG00000127603|ENSG00000127603	ENST00000372925|ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000289893;ENST00000482035	.|T;T;T;T;T;T;T	.|0.59364	.|0.27;0.27;0.27;0.27;0.27;0.27;0.27	5.48|5.48	4.51|4.51	0.55191|0.55191	.|.	.|0.130292	.|0.34986	.|N	.|0.003528	T|T	0.61148|0.61148	0.2324|0.2324	N|N	0.25485|0.25485	0.75|0.75	0.80722|0.80722	D|D	1|1	.|D;P;P	.|0.71674	.|0.998;0.935;0.887	.|D;P;P	.|0.67900	.|0.954;0.738;0.66	T|T	0.63985|0.63985	-0.6513|-0.6513	5|10	.|0.72032	.|D	.|0.01	.|.	11.6427|11.6427	0.51242|0.51242	0.3506:0.6494:0.0:0.0|0.3506:0.6494:0.0:0.0	.|.	.|5404;3337;3281	.|Q9UPN3;F8W8Q1;Q9UPN3-3	.|MACF1_HUMAN;.;.	V|F	2449|3337;5404;3337;3337;3316;3839;153	.|ENSP00000439537:L3337F;ENSP00000362006:L5404F;ENSP00000354573:L3337F;ENSP00000313438:L3337F;ENSP00000444364:L3316F;ENSP00000289893:L3839F;ENSP00000433104:L153F	.|ENSP00000289893:L3839F	A|L	+|+	2|1	0|0	MACF1|MACF1	39662332|39662332	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	5.347000|5.347000	0.65998|0.65998	2.569000|2.569000	0.86673|0.86673	0.655000|0.655000	0.94253|0.94253	GCT|CTT		0.443	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		6	227	0	0	0	1	0	6	227				
ZNF155	7711	broad.mit.edu	37	19	44501183	44501183	+	Nonsense_Mutation	SNP	C	C	T	rs374103288		TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr19:44501183C>T	ENST00000270014.2	+	5	1302	c.1174C>T	c.(1174-1176)Cga>Tga	p.R392*	ZNF155_ENST00000407951.2_Nonsense_Mutation_p.R403*|RP11-15A1.7_ENST00000589021.1_RNA|ZNF155_ENST00000590615.1_Nonsense_Mutation_p.R392*|RP11-15A1.7_ENST00000586860.1_RNA	NM_001260487.1|NM_198089.2	NP_001247416|NP_932355	Q12901	ZN155_HUMAN	zinc finger protein 155	392					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	15		Prostate(69;0.0352)				GAACCATCAGCGAGTCCACAG	0.408													C|||	1	0.000199681	0.0	0.0	5008	,	,		21805	0.001		0.0	False		,,,				2504	0.0				NSCLC(61;554 1277 20909 42067 42312)	ENST00000270014.2																			0				endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	15						c.(1174-1176)Cga>Tga		zinc finger protein 155		C	stop/ARG,stop/ARG	0,4406		0,0,2203	96.0	99.0	98.0		1174,1174	-4.8	0.0	19		98	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained,stop-gained	ZNF155	NM_003445.2,NM_198089.1	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	392/539,392/539	44501183	1,13005	2203	4300	6503	SO:0001587	stop_gained	7711					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:44501183C>T	U09852	CCDS12634.1, CCDS58668.1	19q13.2-q13.32	2013-01-08	2006-08-22			ENSG00000204920		"""Zinc fingers, C2H2-type"", ""-"""	12940	protein-coding gene	gene with protein product		604086	"""zinc finger protein 155 (pHZ-96)"""			7557990	Standard	NM_001260486		Approved	pHZ-96	uc010xwt.2	Q12901		ENST00000270014.2:c.1174C>T	19.37:g.44501183C>T	ENSP00000270014:p.Arg392*		Somatic				ZNF155_ENST00000590615.1_Nonsense_Mutation_p.R392*|RP11-15A1.7_ENST00000589021.1_RNA|ZNF155_ENST00000407951.2_Nonsense_Mutation_p.R403*|RP11-15A1.7_ENST00000586860.1_RNA	p.R392*	NM_001260487.1|NM_198089.2	NP_001247416.1|NP_932355.2	WXS	Illumina GAIIx	Phase_I	Q12901	ZN155_HUMAN			5	1302	+		Prostate(69;0.0352)	392					A2BDE6|B2RB63|B4DM95|J3KQ08|Q6AZZ8|Q9UIE1|Q9UK14	Nonsense_Mutation	SNP	ENST00000270014.2	37	c.1174C>T	CCDS12634.1	.	.	.	.	.	.	.	.	.	.	C	19.10	3.761018	0.69763	0.0	1.16E-4	ENSG00000204920	ENST00000407951;ENST00000270014	.	.	.	2.37	-4.75	0.03239	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.3855	0.21558	0.4661:0.4322:0.1018:0.0	.	.	.	.	X	403;392	.	ENSP00000270014:R392X	R	+	1	2	ZNF155	49193023	0.000000	0.05858	0.000000	0.03702	0.207000	0.24258	-2.690000	0.00831	-1.801000	0.01245	-0.475000	0.04921	CGA		0.408	ZNF155-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000460074.1	NM_003445		4	315	0	0	0	1	0	4	315				
PPEF2	5470	broad.mit.edu	37	4	76817422	76817422	+	Splice_Site	SNP	A	A	G			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr4:76817422A>G	ENST00000286719.7	-	2	412		c.e2+1		PPEF2_ENST00000510607.1_Splice_Site	NM_006239.2	NP_006230.2	O14830	PPE2_HUMAN	protein phosphatase, EF-hand calcium binding domain 2						detection of stimulus involved in sensory perception (GO:0050906)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|protein dephosphorylation (GO:0006470)|regulation of JUN kinase activity (GO:0043506)|regulation of MAP kinase activity (GO:0043405)|visual perception (GO:0007601)	cilium (GO:0005929)|cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|Hsp70 protein binding (GO:0030544)|Hsp90 protein binding (GO:0051879)|iron ion binding (GO:0005506)|manganese ion binding (GO:0030145)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein serine/threonine phosphatase activity (GO:0004722)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			GGAAACACGTACCTCTCTCTG	0.507											OREG0016229	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									NSCLC(105;1359 1603 15961 44567 47947)	ENST00000286719.7																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						c.e2+1		protein phosphatase, EF-hand calcium binding domain 2							209.0	179.0	189.0					4																	76817422		2203	4300	6503	SO:0001630	splice_region_variant	5470				detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception	cytoplasm|photoreceptor inner segment|photoreceptor outer segment	calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity	g.chr4:76817422A>G	AF023456	CCDS34013.1	4q21.1	2013-01-10			ENSG00000156194	ENSG00000156194		"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"", ""EF-hand domain containing"""	9244	protein-coding gene	gene with protein product	"""protein phosphatase 7, catalytic subunit, beta isozyme"""	602256				9326663, 12051765	Standard	NM_006239		Approved	PPP7CB	uc003hix.3	O14830	OTTHUMG00000160915	ENST00000286719.7:c.55+1T>C	4.37:g.76817422A>G			Somatic	OREG0016229	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1171	PPEF2_ENST00000510607.1_Splice_Site		NM_006239.2	NP_006230.2	WXS	Illumina GAIIx	Phase_I	O14830	PPE2_HUMAN	Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)		2	412	-								O14831	Splice_Site	SNP	ENST00000286719.7	37		CCDS34013.1	.	.	.	.	.	.	.	.	.	.	A	10.42	1.344440	0.24339	.	.	ENSG00000156194	ENST00000286719;ENST00000337500	.	.	.	5.37	5.37	0.77165	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.0565	0.53538	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PPEF2	77036446	0.996000	0.38824	0.983000	0.44433	0.034000	0.12701	4.302000	0.59092	2.155000	0.67459	0.460000	0.39030	.		0.507	PPEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362929.1	NM_006239	Intron	3	356	0	0	0	1	0	3	356				
FAM160A2	84067	broad.mit.edu	37	11	6245420	6245420	+	Missense_Mutation	SNP	A	A	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr11:6245420A>T	ENST00000449352.2	-	3	460	c.197T>A	c.(196-198)cTc>cAc	p.L66H	FAM160A2_ENST00000524416.1_Missense_Mutation_p.L66H|FAM160A2_ENST00000265978.4_Missense_Mutation_p.L66H			Q8N612	F16A2_HUMAN	family with sequence similarity 160, member A2	66					early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|protein transport (GO:0015031)	FHF complex (GO:0070695)				NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CACAGCACTGAGATCGTCTGC	0.587																																						ENST00000265978.4																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(196-198)cTc>cAc		family with sequence similarity 160, member A2							45.0	45.0	45.0					11																	6245420		2201	4296	6497	SO:0001583	missense	84067				early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|protein transport	FHF complex	protein binding	g.chr11:6245420A>T		CCDS7760.1, CCDS44530.1	11p15.4	2008-06-05	2008-06-05	2008-06-05	ENSG00000051009	ENSG00000051009			25378	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 56"""	C11orf56		11230166, 11214970	Standard	NM_001098794		Approved	FLJ22665, KIAA1759, DKFZP566M1046	uc001mck.4	Q8N612	OTTHUMG00000133379	ENST00000449352.2:c.197T>A	11.37:g.6245420A>T	ENSP00000416918:p.Leu66His		Somatic				FAM160A2_ENST00000449352.2_Missense_Mutation_p.L66H|FAM160A2_ENST00000524416.1_Missense_Mutation_p.L66H	p.L66H	NM_001098794.1|NM_032127.3	NP_001092264.1|NP_115503.2	WXS	Illumina GAIIx	Phase_I	Q8N612	F16A2_HUMAN			3	555	-			66					Q9C0A4|Q9H0N3|Q9H624	Missense_Mutation	SNP	ENST00000449352.2	37	c.197T>A	CCDS44530.1	.	.	.	.	.	.	.	.	.	.	A	17.94	3.512484	0.64522	.	.	ENSG00000051009	ENST00000449352;ENST00000265978;ENST00000524416	T;T;T	0.17528	2.91;2.9;2.27	4.85	4.85	0.62838	.	0.164028	0.41194	D	0.000927	T	0.35537	0.0935	L	0.54323	1.7	0.43114	D	0.994823	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.91635	0.959;0.959;0.999	T	0.04255	-1.0965	10	0.40728	T	0.16	-8.2028	13.4034	0.60896	1.0:0.0:0.0:0.0	.	66;66;66	E9PJK5;Q8N612;Q8N612-2	.;F16A2_HUMAN;.	H	66	ENSP00000416918:L66H;ENSP00000265978:L66H;ENSP00000431773:L66H	ENSP00000265978:L66H	L	-	2	0	FAM160A2	6201996	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.528000	0.35985	2.051000	0.60960	0.533000	0.62120	CTC		0.587	FAM160A2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383759.1	NM_032127		4	302	0	0	0	1	0	4	302				
PLA2R1	22925	broad.mit.edu	37	2	160885464	160885464	+	Silent	SNP	G	G	A			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr2:160885464G>A	ENST00000283243.7	-	5	1058	c.852C>T	c.(850-852)agC>agT	p.S284S	PLA2R1_ENST00000392771.1_Silent_p.S284S	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	284	C-type lectin 1. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cytokine production (GO:0001816)|negative regulation of arachidonic acid secretion (GO:1900139)|negative regulation of phospholipase A2 activity (GO:1900138)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of arachidonic acid secretion (GO:0090238)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|reactive oxygen species metabolic process (GO:0072593)|receptor-mediated endocytosis (GO:0006898)|replicative senescence (GO:0090399)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	carbohydrate binding (GO:0030246)|phospholipase binding (GO:0043274)|receptor activity (GO:0004872)		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						CTGTTTTACTGCTCATGTGCT	0.453																																						ENST00000283243.7																		PLA2R1/RBMS1(2)	0				central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						c.(850-852)agC>agT		phospholipase A2 receptor 1, 180kDa							88.0	73.0	78.0					2																	160885464		2203	4300	6503	SO:0001819	synonymous_variant	22925				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding	g.chr2:160885464G>A	U17033	CCDS33309.1, CCDS42767.1	2q23-q24	2011-08-30	2002-08-29		ENSG00000153246	ENSG00000153246		"""C-type lectin domain containing"""	9042	protein-coding gene	gene with protein product		604939	"""phospholipase A2 receptor 1, 180kD"""			7721806, 7925459	Standard	NM_007366		Approved	PLA2G1R, PLA2IR, PLA2-R, CLEC13C	uc002ube.2	Q13018	OTTHUMG00000154087	ENST00000283243.7:c.852C>T	2.37:g.160885464G>A			Somatic				PLA2R1_ENST00000392771.1_Silent_p.S284S	p.S284S	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	WXS	Illumina GAIIx	Phase_I	Q13018	PLA2R_HUMAN			5	1058	-			284			C-type lectin 1.		B2RTU9|D3DPB1|Q13019|Q15095|Q53R45|Q53RR7	Silent	SNP	ENST00000283243.7	37	c.852C>T	CCDS33309.1																																																																																				0.453	PLA2R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333820.1			3	33	0	0	0	1	0	3	33				
RAB43	339122	broad.mit.edu	37	3	128840237	128840237	+	Silent	SNP	C	C	A			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr3:128840237C>A	ENST00000315150.5	-	1	396	c.96G>T	c.(94-96)acG>acT	p.T32T	RP11-434H6.6_ENST00000608909.1_RNA|RAB43_ENST00000393307.1_Silent_p.T32T|RAB43_ENST00000393308.1_Silent_p.T32T|ISY1-RAB43_ENST00000418265.1_Intron|RAB43_ENST00000393304.1_Silent_p.T32T|RAB43_ENST00000393305.1_Silent_p.T32T|RAB43_ENST00000476465.1_Silent_p.T32T	NM_001204888.1|NM_198490.2	NP_001191817.1|NP_940892.1	Q86YS6	RAB43_HUMAN	RAB43, member RAS oncogene family	32					Golgi organization (GO:0007030)|GTP catabolic process (GO:0006184)|phagosome maturation (GO:0090382)|protein transport (GO:0015031)|retrograde transport, plasma membrane to Golgi (GO:0035526)|small GTPase mediated signal transduction (GO:0007264)|virion assembly (GO:0019068)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|phagocytic vesicle (GO:0045335)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			kidney(2)|liver(1)|lung(2)|skin(1)	6						GCACCACGCACGTCTTGCCCA	0.667																																						ENST00000315150.5																			0				kidney(2)|liver(1)|lung(2)|skin(1)	6						c.(94-96)acG>acT		RAB43, member RAS oncogene family							26.0	25.0	25.0					3																	128840237		2203	4300	6503	SO:0001819	synonymous_variant	339122				protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding	g.chr3:128840237C>A	AY166852	CCDS33850.1, CCDS56275.1	3q21.3	2010-03-30			ENSG00000172780	ENSG00000172780		"""RAB, member RAS oncogene"""	19983	protein-coding gene	gene with protein product						15018353	Standard	NM_198490		Approved	RAB41, RAB11B, ISY1	uc021xdp.1	Q86YS6	OTTHUMG00000137364	ENST00000315150.5:c.96G>T	3.37:g.128840237C>A			Somatic				ISY1-RAB43_ENST00000418265.1_Intron|RAB43_ENST00000393307.1_Silent_p.T32T|RAB43_ENST00000393305.1_Silent_p.T32T|RAB43_ENST00000393304.1_Silent_p.T32T|RAB43_ENST00000476465.1_Silent_p.T32T|RAB43_ENST00000393308.1_Silent_p.T32T	p.T32T	NM_001204888.1|NM_198490.2	NP_001191817.1|NP_940892.1	WXS	Illumina GAIIx	Phase_I	Q86YS6	RAB43_HUMAN			1	396	-			32					A8K4P9|E9PBQ0	Silent	SNP	ENST00000315150.5	37	c.96G>T	CCDS33850.1																																																																																				0.667	RAB43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000267849.1	XM_290714		3	10	1	0	0.014758	1	0.0153017	3	10				
ACSL3	2181	broad.mit.edu	37	2	223782769	223782769	+	Missense_Mutation	SNP	A	A	T	rs375127172		TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr2:223782769A>T	ENST00000357430.3	+	6	1093	c.562A>T	c.(562-564)Aca>Tca	p.T188S	ACSL3_ENST00000392066.3_Missense_Mutation_p.T188S|AC097461.4_ENST00000446709.1_RNA	NM_004457.3	NP_004448.2	O95573	ACSL3_HUMAN	acyl-CoA synthetase long-chain family member 3	188					brain development (GO:0007420)|fatty acid biosynthetic process (GO:0006633)|long-chain fatty acid import (GO:0044539)|positive regulation of Golgi to plasma membrane protein transport (GO:0042998)|positive regulation of phosphatidylcholine biosynthetic process (GO:2001247)|positive regulation of secretion (GO:0051047)|response to nutrient (GO:0007584)|response to organic cyclic compound (GO:0014070)|very-low-density lipoprotein particle assembly (GO:0034379)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)|skin(2)	22		Renal(207;0.0183)		Epithelial(121;1.28e-10)|all cancers(144;8.06e-08)|Lung(261;0.00834)|LUSC - Lung squamous cell carcinoma(224;0.00864)	Icosapent(DB00159)	TTTAGTTGTTACATTATATGC	0.348			T	ETV1	prostate																																	ENST00000357430.3				Dom	yes		2	2q36	2181	T	acyl-CoA synthetase long-chain family member 3			E	ETV1		prostate		0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)|skin(2)	22						c.(562-564)Aca>Tca		acyl-CoA synthetase long-chain family member 3	Icosapent(DB00159)						120.0	116.0	118.0					2																	223782769		2203	4300	6503	SO:0001583	missense	2181				long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|fatty-acyl-CoA synthase activity|long-chain fatty acid-CoA ligase activity|protein binding	g.chr2:223782769A>T	D89053	CCDS2455.1	2q34-q35	2008-02-05	2004-02-19	2004-02-20	ENSG00000123983	ENSG00000123983		"""Acyl-CoA synthetase family"""	3570	protein-coding gene	gene with protein product		602371	"""fatty-acid-Coenzyme A ligase, long-chain 3"""	FACL3			Standard	NM_004457		Approved	ACS3, PRO2194	uc002vnj.3	O95573	OTTHUMG00000133160	ENST00000357430.3:c.562A>T	2.37:g.223782769A>T	ENSP00000350012:p.Thr188Ser		Somatic				AC097461.4_ENST00000446709.1_RNA|ACSL3_ENST00000392066.3_Missense_Mutation_p.T188S	p.T188S	NM_004457.3	NP_004448.2	WXS	Illumina GAIIx	Phase_I	O95573	ACSL3_HUMAN		Epithelial(121;1.28e-10)|all cancers(144;8.06e-08)|Lung(261;0.00834)|LUSC - Lung squamous cell carcinoma(224;0.00864)	6	1093	+		Renal(207;0.0183)	188					Q60I92|Q8IUM9	Missense_Mutation	SNP	ENST00000357430.3	37	c.562A>T	CCDS2455.1	.	.	.	.	.	.	.	.	.	.	A	27.6	4.846478	0.91277	.	.	ENSG00000123983	ENST00000357430;ENST00000392066;ENST00000540115	T;T;T	0.43294	0.95;0.95;0.95	5.22	5.22	0.72569	AMP-dependent synthetase/ligase (1);	0.097447	0.64402	D	0.000001	T	0.58963	0.2159	L	0.61036	1.89	0.80722	D	1	D	0.59357	0.985	D	0.66847	0.947	T	0.54642	-0.8263	10	0.25106	T	0.35	-17.5461	15.2561	0.73585	1.0:0.0:0.0:0.0	.	188	O95573	ACSL3_HUMAN	S	188;188;36	ENSP00000350012:T188S;ENSP00000375918:T188S;ENSP00000441643:T36S	ENSP00000350012:T188S	T	+	1	0	ACSL3	223491013	1.000000	0.71417	0.996000	0.52242	0.980000	0.70556	8.757000	0.91657	2.185000	0.69588	0.533000	0.62120	ACA		0.348	ACSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256862.2	NM_004457		5	135	0	0	0	1	0	5	135				
ARHGAP9	64333	broad.mit.edu	37	12	57866395	57866395	+	Missense_Mutation	SNP	G	G	A			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr12:57866395G>A	ENST00000356411.2	-	18	2296	c.2158C>T	c.(2158-2160)Cca>Tca	p.P720S	ARHGAP9_ENST00000393797.2_Missense_Mutation_p.P791S|ARHGAP9_ENST00000393791.3_Missense_Mutation_p.P701S|ARHGAP9_ENST00000424809.2_3'UTR|ARHGAP9_ENST00000430041.2_Missense_Mutation_p.P517S|ARHGAP9_ENST00000550288.1_3'UTR			Q9BRR9	RHG09_HUMAN	Rho GTPase activating protein 9	720	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)			endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)	30			GBM - Glioblastoma multiforme(3;3.37e-34)			TCCTGCTCTGGCCGAAACAGG	0.557																																						ENST00000393797.2																			0				endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)	30						c.(2371-2373)Cca>Tca		Rho GTPase activating protein 9							93.0	75.0	81.0					12																	57866395		2203	4300	6503	SO:0001583	missense	64333				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	g.chr12:57866395G>A	AB051853	CCDS8941.2, CCDS44928.1, CCDS44929.1	12q13.3	2013-01-10			ENSG00000123329	ENSG00000123329		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	14130	protein-coding gene	gene with protein product		610576				11396949	Standard	NM_032496		Approved	MGC1295, 10C	uc001soc.3	Q9BRR9	OTTHUMG00000150147	ENST00000356411.2:c.2158C>T	12.37:g.57866395G>A	ENSP00000348782:p.Pro720Ser		Somatic				ARHGAP9_ENST00000430041.2_Missense_Mutation_p.P517S|ARHGAP9_ENST00000393791.3_Missense_Mutation_p.P701S|ARHGAP9_ENST00000424809.2_3'UTR|ARHGAP9_ENST00000550288.1_3'UTR|ARHGAP9_ENST00000356411.2_Missense_Mutation_p.P720S	p.P791S			WXS	Illumina GAIIx	Phase_I	Q9BRR9	RHG09_HUMAN	GBM - Glioblastoma multiforme(3;3.37e-34)		21	2563	-			720					B4DVI3|E9PDX9|Q8NAF3|Q8TCJ3|Q8WYR0|Q96EZ2|Q96S74	Missense_Mutation	SNP	ENST00000356411.2	37	c.2371C>T		.	.	.	.	.	.	.	.	.	.	G	26.4	4.732529	0.89482	.	.	ENSG00000123329	ENST00000393791;ENST00000356411;ENST00000393797;ENST00000340423;ENST00000430041	T;T;T;T	0.18338	2.22;2.22;2.22;2.22	4.74	4.74	0.60224	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.31327	0.0793	L	0.32530	0.975	0.54753	D	0.999985	D;D;D	0.89917	1.0;1.0;0.975	D;D;D	0.91635	0.999;0.988;0.951	T	0.04216	-1.0968	10	0.72032	D	0.01	.	15.0536	0.71894	0.0:0.0:1.0:0.0	.	720;701;517	Q9BRR9;Q9BRR9-2;B4DVI3	RHG09_HUMAN;.;.	S	701;720;791;743;517	ENSP00000377380:P701S;ENSP00000348782:P720S;ENSP00000377386:P791S;ENSP00000397950:P517S	ENSP00000344852:P743S	P	-	1	0	ARHGAP9	56152662	1.000000	0.71417	0.922000	0.36590	0.978000	0.69477	6.607000	0.74163	2.363000	0.80096	0.650000	0.86243	CCA		0.557	ARHGAP9-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_032496		4	120	0	0	0	1	0	4	120				
KIF5A	3798	broad.mit.edu	37	12	57970616	57970616	+	Silent	SNP	C	C	T	rs374554951		TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr12:57970616C>T	ENST00000455537.2	+	20	2545	c.2271C>T	c.(2269-2271)caC>caT	p.H757H	KIF5A_ENST00000286452.5_Silent_p.H668H	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	757					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|protein localization (GO:0008104)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						GCGAAGAACACGAGAAGAGCA	0.488																																						ENST00000455537.2																			0				breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						c.(2269-2271)caC>caT		kinesin family member 5A							100.0	87.0	91.0					12																	57970616		2203	4300	6503	SO:0001819	synonymous_variant	3798				blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity	g.chr12:57970616C>T	U06698	CCDS8945.1	12q13.13	2011-07-15	2004-02-13			ENSG00000155980		"""Kinesins"""	6323	protein-coding gene	gene with protein product		602821	"""spastic paraplegia 10 (autosomal dominant)"""	SPG10		9858832, 10441583, 16489470	Standard	NM_004984		Approved	D12S1889, NKHC, MY050	uc001sor.1	Q12840	OTTHUMG00000170143	ENST00000455537.2:c.2271C>T	12.37:g.57970616C>T			Somatic				KIF5A_ENST00000286452.5_Silent_p.H668H	p.H757H	NM_004984.2	NP_004975.2	WXS	Illumina GAIIx	Phase_I	Q12840	KIF5A_HUMAN			20	2545	+			757					A6H8M5|Q4LE26	Silent	SNP	ENST00000455537.2	37	c.2271C>T	CCDS8945.1																																																																																				0.488	KIF5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407634.1	NM_004984		13	264	0	0	0	1	0	13	264				
MNDA	4332	broad.mit.edu	37	1	158815659	158815659	+	Missense_Mutation	SNP	T	T	C	rs374060185		TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr1:158815659T>C	ENST00000368141.4	+	5	1114	c.853T>C	c.(853-855)Tct>Cct	p.S285P		NM_002432.1	NP_002423.1	P41218	MNDA_HUMAN	myeloid cell nuclear differentiation antigen	285	HIN-200. {ECO:0000255|PROSITE- ProRule:PRU00106}.				B cell receptor signaling pathway (GO:0050853)|cellular defense response (GO:0006968)|cellular response to DNA damage stimulus (GO:0006974)|negative regulation of B cell proliferation (GO:0030889)|positive regulation of apoptotic process (GO:0043065)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	all_hematologic(112;0.0378)					GGAAGCATCATCTGTGTCTGA	0.348																																						ENST00000368141.4																			0				NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65						c.(853-855)Tct>Cct		myeloid cell nuclear differentiation antigen		T	PRO/SER	0,4406		0,0,2203	73.0	76.0	75.0		853	-1.5	0.0	1		75	1,8599	1.2+/-3.3	0,1,4299	no	missense	MNDA	NM_002432.1	74	0,1,6502	CC,CT,TT		0.0116,0.0,0.0077	probably-damaging	285/408	158815659	1,13005	2203	4300	6503	SO:0001583	missense	4332				B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	g.chr1:158815659T>C	BC032319	CCDS1177.1	1q22	2008-02-05			ENSG00000163563	ENSG00000163563			7183	protein-coding gene	gene with protein product		159553				1644857, 7512843	Standard	NM_002432		Approved	PYHIN3	uc001fsz.1	P41218	OTTHUMG00000022776	ENST00000368141.4:c.853T>C	1.37:g.158815659T>C	ENSP00000357123:p.Ser285Pro		Somatic					p.S285P	NM_002432.1	NP_002423.1	WXS	Illumina GAIIx	Phase_I	P41218	MNDA_HUMAN			5	1114	+	all_hematologic(112;0.0378)		285			HIN-200.			Missense_Mutation	SNP	ENST00000368141.4	37	c.853T>C	CCDS1177.1	.	.	.	.	.	.	.	.	.	.	T	16.06	3.016095	0.54468	0.0	1.16E-4	ENSG00000163563	ENST00000368141	T	0.15952	2.38	4.28	-1.55	0.08558	HIN-200/IF120x (2);Nucleic acid-binding, OB-fold (1);	1.640470	0.03858	N	0.273478	T	0.18759	0.0450	M	0.73217	2.22	0.09310	N	1	D	0.76494	0.999	D	0.75020	0.985	T	0.06427	-1.0827	10	0.59425	D	0.04	-0.9067	1.6694	0.02808	0.1633:0.0984:0.3364:0.4018	.	285	P41218	MNDA_HUMAN	P	285	ENSP00000357123:S285P	ENSP00000357123:S285P	S	+	1	0	MNDA	157082283	0.000000	0.05858	0.000000	0.03702	0.353000	0.29299	-0.834000	0.04391	-0.056000	0.13221	0.533000	0.62120	TCT		0.348	MNDA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059069.1	NM_002432		3	100	0	0	0	1	0	3	100				
TMX4	56255	broad.mit.edu	37	20	7982163	7982163	+	Silent	SNP	G	G	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr20:7982163G>T	ENST00000246024.2	-	3	533	c.318C>A	c.(316-318)acC>acA	p.T106T	TMX4_ENST00000530935.1_5'UTR	NM_021156.2	NP_066979.2	Q9H1E5	TMX4_HUMAN	thioredoxin-related transmembrane protein 4	106	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell redox homeostasis (GO:0045454)|oxidation-reduction process (GO:0055114)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein disulfide isomerase activity (GO:0003756)			endometrium(3)|large_intestine(2)|lung(11)|skin(1)	17						CTGGGAGAGTGGTGACAAAGA	0.343																																						ENST00000246024.2																			0				endometrium(3)|large_intestine(2)|lung(11)|skin(1)	17						c.(316-318)acC>acA		thioredoxin-related transmembrane protein 4							63.0	60.0	61.0					20																	7982163		2203	4300	6503	SO:0001819	synonymous_variant	56255				cell redox homeostasis|electron transport chain|transport	integral to membrane		g.chr20:7982163G>T		CCDS13101.1	20p12	2011-10-19	2009-02-23	2009-02-23	ENSG00000125827	ENSG00000125827		"""Protein disulfide isomerases"""	25237	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 14"""		"""thioredoxin domain containing 13"""	TXNDC13			Standard	NM_021156		Approved	DJ971N18.2, KIAA1162, PDIA14	uc002wmx.1	Q9H1E5	OTTHUMG00000031843	ENST00000246024.2:c.318C>A	20.37:g.7982163G>T			Somatic				TMX4_ENST00000530935.1_5'UTR	p.T106T	NM_021156.2	NP_066979.2	WXS	Illumina GAIIx	Phase_I	Q9H1E5	TMX4_HUMAN			3	533	-			106			Thioredoxin.		Q8N4P7|Q8NCC1|Q9UJA1|Q9ULQ8	Silent	SNP	ENST00000246024.2	37	c.318C>A	CCDS13101.1																																																																																				0.343	TMX4-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000077928.2	NM_021156		4	12	1	0	0.00116845	1	0.00123755	4	12				
PUS7L	83448	broad.mit.edu	37	12	44148483	44148483	+	Missense_Mutation	SNP	A	A	G			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr12:44148483A>G	ENST00000416848.2	-	2	1054	c.566T>C	c.(565-567)gTa>gCa	p.V189A	PUS7L_ENST00000553166.1_Missense_Mutation_p.V189A|PUS7L_ENST00000344862.5_Missense_Mutation_p.V189A|PUS7L_ENST00000431332.3_Intron|PUS7L_ENST00000551923.1_Missense_Mutation_p.V189A	NM_001098615.1|NM_001271826.1	NP_001092085.1|NP_001258755.1	Q9H0K6	PUS7L_HUMAN	pseudouridylate synthase 7 homolog (S. cerevisiae)-like	189					pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033)		pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)			NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(15)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	all_cancers(12;0.00027)	Lung NSC(34;0.114)|all_lung(34;0.24)		GBM - Glioblastoma multiforme(48;0.0402)		GTTTTTTCCTACAGTTACTAA	0.338																																						ENST00000416848.2																			0				NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(15)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(565-567)gTa>gCa		pseudouridylate synthase 7 homolog (S. cerevisiae)-like							71.0	71.0	71.0					12																	44148483		2203	4299	6502	SO:0001583	missense	83448				pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding	g.chr12:44148483A>G	BX647494	CCDS8743.1, CCDS61104.1	12q12	2006-02-07				ENSG00000129317			25276	protein-coding gene	gene with protein product						11230166	Standard	NM_001098615		Approved	DKFZP434G1415	uc001rnr.5	Q9H0K6	OTTHUMG00000169423	ENST00000416848.2:c.566T>C	12.37:g.44148483A>G	ENSP00000415899:p.Val189Ala		Somatic				PUS7L_ENST00000553166.1_Missense_Mutation_p.V189A|PUS7L_ENST00000551923.1_Missense_Mutation_p.V189A|PUS7L_ENST00000344862.5_Missense_Mutation_p.V189A|PUS7L_ENST00000431332.3_Intron	p.V189A	NM_001098615.1|NM_001271826.1	NP_001092085.1|NP_001258755.1	WXS	Illumina GAIIx	Phase_I	Q9H0K6	PUS7L_HUMAN		GBM - Glioblastoma multiforme(48;0.0402)	2	1054	-	all_cancers(12;0.00027)	Lung NSC(34;0.114)|all_lung(34;0.24)	189					B3KUJ1|Q05CU0|Q6AHZ3|Q6NUP2	Missense_Mutation	SNP	ENST00000416848.2	37	c.566T>C	CCDS8743.1	.	.	.	.	.	.	.	.	.	.	A	16.31	3.088491	0.55968	.	.	ENSG00000129317	ENST00000416848;ENST00000344862;ENST00000551923;ENST00000553166	T;T;T;T	0.25912	1.85;1.85;1.85;1.77	5.26	2.85	0.33270	Pseudouridine synthase, catalytic domain (1);	0.570195	0.19252	N	0.118891	T	0.24586	0.0596	M	0.65975	2.015	0.80722	D	1	B	0.12630	0.006	B	0.15052	0.012	T	0.04946	-1.0916	10	0.15066	T	0.55	-7.0839	10.0987	0.42491	0.8601:0.0:0.1399:0.0	.	189	Q9H0K6	PUS7L_HUMAN	A	189	ENSP00000415899:V189A;ENSP00000343081:V189A;ENSP00000447706:V189A;ENSP00000446865:V189A	ENSP00000343081:V189A	V	-	2	0	PUS7L	42434750	1.000000	0.71417	0.990000	0.47175	0.980000	0.70556	6.800000	0.75165	0.500000	0.27991	0.482000	0.46254	GTA		0.338	PUS7L-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403931.1	NM_031292		3	253	0	0	0	1	0	3	253				
NUP205	23165	broad.mit.edu	37	7	135286243	135286243	+	Missense_Mutation	SNP	G	G	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr7:135286243G>T	ENST00000285968.6	+	17	2526	c.2500G>T	c.(2500-2502)Gcc>Tcc	p.A834S		NM_015135.2	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	834					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						TGACACCTATGCCCCCTTTCC	0.398																																						ENST00000285968.6																			0				breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						c.(2500-2502)Gcc>Tcc		nucleoporin 205kDa							176.0	169.0	172.0					7																	135286243		2203	4300	6503	SO:0001583	missense	23165				carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	g.chr7:135286243G>T	D86978	CCDS34759.1	7q31.32	2007-03-26	2004-01-06	2004-01-07	ENSG00000155561	ENSG00000155561			18658	protein-coding gene	gene with protein product		614352	"""chromosome 7 open reading frame 14"""	C7orf14		9039502, 9348540	Standard	NM_015135		Approved	KIAA0225	uc003vsw.3	Q92621	OTTHUMG00000155497	ENST00000285968.6:c.2500G>T	7.37:g.135286243G>T	ENSP00000285968:p.Ala834Ser		Somatic					p.A834S	NM_015135.2	NP_055950.1	WXS	Illumina GAIIx	Phase_I	Q92621	NU205_HUMAN			17	2526	+			834					A6H8X3|Q86YC1	Missense_Mutation	SNP	ENST00000285968.6	37	c.2500G>T	CCDS34759.1	.	.	.	.	.	.	.	.	.	.	G	12.05	1.821344	0.32237	.	.	ENSG00000155561	ENST00000285968	T	0.28666	1.6	5.76	5.76	0.90799	.	0.046469	0.85682	D	0.000000	T	0.22322	0.0538	N	0.16743	0.435	0.80722	D	1	B	0.17667	0.023	B	0.17433	0.018	T	0.08764	-1.0706	10	0.13108	T	0.6	-32.9722	19.9616	0.97254	0.0:0.0:1.0:0.0	.	834	Q92621	NU205_HUMAN	S	834	ENSP00000285968:A834S	ENSP00000285968:A834S	A	+	1	0	NUP205	134936783	1.000000	0.71417	0.996000	0.52242	0.928000	0.56348	6.502000	0.73695	2.724000	0.93272	0.561000	0.74099	GCC		0.398	NUP205-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340358.1			17	323	1	0	5.03518e-11	1	5.76704e-11	17	323				
CYP46A1	10858	broad.mit.edu	37	14	100165849	100165849	+	Missense_Mutation	SNP	G	G	A			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr14:100165849G>A	ENST00000261835.3	+	4	433	c.329G>A	c.(328-330)cGt>cAt	p.R110H	CYP46A1_ENST00000423126.2_Missense_Mutation_p.R13H	NM_006668.1	NP_006659.1	Q9Y6A2	CP46A_HUMAN	cytochrome P450, family 46, subfamily A, polypeptide 1	110					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cholesterol catabolic process (GO:0006707)|nervous system development (GO:0007399)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	cholesterol 24-hydroxylase activity (GO:0033781)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid hydroxylase activity (GO:0008395)			breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)	25		Melanoma(154;0.0866)|all_epithelial(191;0.179)				AAGATGTACCGTGCGCTCCAG	0.537																																						ENST00000261835.3																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)	25						c.(328-330)cGt>cAt		cytochrome P450, family 46, subfamily A, polypeptide 1							271.0	258.0	262.0					14																	100165849		2203	4300	6503	SO:0001583	missense	10858				bile acid biosynthetic process|cholesterol catabolic process|nervous system development|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol 24-hydroxylase activity|electron carrier activity|heme binding|steroid hydroxylase activity	g.chr14:100165849G>A	AF094480	CCDS9954.1	14q32.2	2013-05-03	2003-02-14	2003-02-28	ENSG00000036530	ENSG00000036530		"""Cytochrome P450s"""	2641	protein-coding gene	gene with protein product		604087	"""cytochrome P450, subfamily 46 (cholesterol 24-hydroxylase)"""	CYP46		10377398	Standard	NM_006668		Approved		uc001ygo.3	Q9Y6A2	OTTHUMG00000171510	ENST00000261835.3:c.329G>A	14.37:g.100165849G>A	ENSP00000261835:p.Arg110His		Somatic				CYP46A1_ENST00000423126.2_Missense_Mutation_p.R13H	p.R110H	NM_006668.1	NP_006659.1	WXS	Illumina GAIIx	Phase_I	Q9Y6A2	CP46A_HUMAN			4	433	+		Melanoma(154;0.0866)|all_epithelial(191;0.179)	110					B4DHP8|E7EQG9|Q8N2B0	Missense_Mutation	SNP	ENST00000261835.3	37	c.329G>A	CCDS9954.1	.	.	.	.	.	.	.	.	.	.	G	11.66	1.706003	0.30232	.	.	ENSG00000036530	ENST00000261835;ENST00000423126	T;D	0.82893	-0.4;-1.66	5.5	3.42	0.39159	.	0.633707	0.15897	N	0.239263	T	0.68952	0.3057	N	0.25485	0.75	0.20975	N	0.999817	B;B	0.09022	0.002;0.0	B;B	0.06405	0.002;0.0	T	0.55068	-0.8198	10	0.34782	T	0.22	.	4.7062	0.12851	0.1551:0.2271:0.6177:0.0	.	110;81	Q9Y6A2;Q59ER2	CP46A_HUMAN;.	H	110;13	ENSP00000261835:R110H;ENSP00000405779:R13H	ENSP00000261835:R110H	R	+	2	0	CYP46A1	99235602	0.959000	0.32827	0.963000	0.40424	0.933000	0.57130	2.455000	0.44988	1.302000	0.44855	0.643000	0.83706	CGT		0.537	CYP46A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413814.1			8	687	0	0	0	1	0	8	687				
LRP1	4035	broad.mit.edu	37	12	57542762	57542762	+	Intron	SNP	A	A	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr12:57542762A>T	ENST00000243077.3	+	6	1307				LRP1_ENST00000553277.1_Intron|LRP1_ENST00000554174.1_Intron|LRP1_ENST00000338962.4_Splice_Site|RP11-545N8.3_ENST00000554476.1_RNA|RP11-545N8.3_ENST00000555461.1_RNA	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1						aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	ttatttttttaGTGTGTGTGT	0.468																																						ENST00000338962.4																			0				NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184						c.e7-1		low density lipoprotein receptor-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)						8.0	9.0	9.0					12																	57542762		872	1985	2857	SO:0001627	intron_variant	4035				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	g.chr12:57542762A>T	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.841+3489A>T	12.37:g.57542762A>T			Somatic				LRP1_ENST00000554174.1_Intron|LRP1_ENST00000553277.1_Intron|LRP1_ENST00000243077.3_Intron				WXS	Illumina GAIIx	Phase_I	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	7	1090	+								Q2PP12|Q86SW0|Q8IVG8	Splice_Site	SNP	ENST00000243077.3	37		CCDS8932.1																																																																																				0.468	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		3	51	0	0	0	1	0	3	51				
SRRM2	23524	broad.mit.edu	37	16	2817632	2817632	+	Missense_Mutation	SNP	G	G	A	rs374840151		TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr16:2817632G>A	ENST00000301740.8	+	11	7652	c.7103G>A	c.(7102-7104)aGt>aAt	p.S2368N	AC092117.2_ENST00000581119.1_RNA|SRRM2_ENST00000574593.1_3'UTR	NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	2368	Ala-rich.|Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						AGCCTCACCAGTGCTAGGATG	0.627																																						ENST00000301740.8																			0				breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						c.(7102-7104)aGt>aAt		serine/arginine repetitive matrix 2		G	ASN/SER	2,4394	4.2+/-10.8	0,2,2196	75.0	79.0	78.0		7103	4.6	1.0	16		78	0,8600		0,0,4300	no	missense	SRRM2	NM_016333.3	46	0,2,6496	AA,AG,GG		0.0,0.0455,0.0154	possibly-damaging	2368/2753	2817632	2,12994	2198	4300	6498	SO:0001583	missense	23524					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding	g.chr16:2817632G>A	AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.7103G>A	16.37:g.2817632G>A	ENSP00000301740:p.Ser2368Asn		Somatic				SRRM2_ENST00000574593.1_3'UTR	p.S2368N	NM_016333.3	NP_057417.3	WXS	Illumina GAIIx	Phase_I	Q9UQ35	SRRM2_HUMAN			11	7652	+			2368			Ala-rich.|Ser-rich.		A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Missense_Mutation	SNP	ENST00000301740.8	37	c.7103G>A	CCDS32373.1	.	.	.	.	.	.	.	.	.	.	G	13.16	2.153191	0.38021	4.55E-4	0.0	ENSG00000167978	ENST00000301740;ENST00000544933	T	0.78481	-1.18	5.5	4.55	0.56014	.	0.257962	0.35179	N	0.003382	T	0.72630	0.3484	N	0.24115	0.695	0.25532	N	0.987268	D	0.53885	0.963	P	0.52598	0.703	T	0.65594	-0.6130	10	0.52906	T	0.07	-4.8965	10.3847	0.44132	0.0903:0.0:0.9097:0.0	.	2368	Q9UQ35	SRRM2_HUMAN	N	2368;1620	ENSP00000301740:S2368N	ENSP00000301740:S2368N	S	+	2	0	SRRM2	2757633	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.474000	0.53129	1.321000	0.45227	0.655000	0.94253	AGT		0.627	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436411.1			4	94	0	0	0	1	0	4	94				
FLG	2312	broad.mit.edu	37	1	152278999	152278999	+	Missense_Mutation	SNP	C	C	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr1:152278999C>T	ENST00000368799.1	-	3	8398	c.8363G>A	c.(8362-8364)gGa>gAa	p.G2788E	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2788	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCCCGGGTGTCCACGAATGGT	0.602									Ichthyosis																													ENST00000368799.1																			0				autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(8362-8364)gGa>gAa		filaggrin							349.0	467.0	427.0					1																	152278999		2198	4296	6494	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152278999C>T	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.8363G>A	1.37:g.152278999C>T	ENSP00000357789:p.Gly2788Glu		Somatic				FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	p.G2788E	NM_002016.1	NP_002007.1	WXS	Illumina GAIIx	Phase_I	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	8398	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2788			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.8363G>A	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	C	10.68	1.418437	0.25552	.	.	ENSG00000143631	ENST00000368799;ENST00000368796	T	0.07567	3.18	4.05	-0.318	0.12728	.	.	.	.	.	T	0.03263	0.0095	M	0.78637	2.42	0.09310	N	1	B	0.26081	0.141	B	0.23419	0.046	T	0.37731	-0.9693	9	0.37606	T	0.19	.	4.3104	0.10967	0.0:0.5225:0.1703:0.3072	.	2788	P20930	FILA_HUMAN	E	2788;50	ENSP00000357789:G2788E	ENSP00000357786:G50E	G	-	2	0	FLG	150545623	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.115000	0.10741	-0.149000	0.11215	0.306000	0.20318	GGA		0.602	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		7	221	0	0	0	1	0	7	221				
PTTG1	9232	broad.mit.edu	37	5	159851297	159851297	+	Silent	SNP	C	C	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr5:159851297C>T	ENST00000393964.1	+	3	733	c.330C>T	c.(328-330)gcC>gcT	p.A110A	PTTG1_ENST00000352433.5_Silent_p.A110A|PTTG1_ENST00000519287.1_3'UTR|PTTG1_ENST00000520452.1_Silent_p.A110A	NM_001282382.1	NP_001269311.1	O95997	PTTG1_HUMAN	pituitary tumor-transforming 1	110					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|chromosome organization (GO:0051276)|chromosome segregation (GO:0007059)|DNA repair (GO:0006281)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of endopeptidase activity (GO:0010951)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|large_intestine(1)|lung(4)	6	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	OV - Ovarian serous cystadenocarcinoma(192;0.00219)|Epithelial(171;0.00348)|all cancers(165;0.0104)		CAGATGATGCCTATCCAGAAA	0.383																																						ENST00000393964.1																			0				breast(1)|large_intestine(1)|lung(4)	6						c.(328-330)gcC>gcT		pituitary tumor-transforming 1							121.0	126.0	125.0					5																	159851297		2203	4300	6503	SO:0001819	synonymous_variant	9232				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|chromosome organization|chromosome segregation|DNA repair|mitosis|spermatogenesis|transcription from RNA polymerase II promoter	cytosol|nucleus	cysteine-type endopeptidase inhibitor activity|sequence-specific DNA binding transcription factor activity|SH3 domain binding	g.chr5:159851297C>T	AF062649	CCDS4353.1	5q35.1	2014-08-04			ENSG00000164611	ENSG00000164611			9690	protein-coding gene	gene with protein product	"""ESP1-associated protein 1"", ""tumor-transforming protein 1"""	604147		TUTR1		9811450, 9892021	Standard	NM_004219		Approved	PTTG, HPTTG, EAP1, securin	uc003lyj.3	O95997	OTTHUMG00000130328	ENST00000393964.1:c.330C>T	5.37:g.159851297C>T			Somatic				PTTG1_ENST00000519287.1_3'UTR|PTTG1_ENST00000520452.1_Silent_p.A110A|PTTG1_ENST00000352433.5_Silent_p.A110A	p.A110A			WXS	Illumina GAIIx	Phase_I	O95997	PTTG1_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	OV - Ovarian serous cystadenocarcinoma(192;0.00219)|Epithelial(171;0.00348)|all cancers(165;0.0104)	3	733	+	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	110						Silent	SNP	ENST00000393964.1	37	c.330C>T	CCDS4353.1																																																																																				0.383	PTTG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252677.1	NM_004219		12	596	0	0	0	1	0	12	596				
RUSC2	9853	broad.mit.edu	37	9	35547638	35547638	+	Missense_Mutation	SNP	C	C	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr9:35547638C>T	ENST00000455600.1	+	2	1689	c.1120C>T	c.(1120-1122)Cca>Tca	p.P374S		NM_001135999.1	NP_001129471	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	374						cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)	Rab GTPase binding (GO:0017137)			NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			TGAGCCGTGCCCAGCAGTGGC	0.547																																						ENST00000455600.1																			0				NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(1120-1122)Cca>Tca		RUN and SH3 domain containing 2							86.0	78.0	81.0					9																	35547638		2203	4300	6503	SO:0001583	missense	9853					cytosol		g.chr9:35547638C>T	AB002373	CCDS35008.1	9p13.2	2003-12-02			ENSG00000198853	ENSG00000198853			23625	protein-coding gene	gene with protein product		611053				9205841	Standard	NM_001135999		Approved	KIAA0375	uc003zww.3	Q8N2Y8	OTTHUMG00000019861	ENST00000455600.1:c.1120C>T	9.37:g.35547638C>T	ENSP00000393922:p.Pro374Ser		Somatic					p.P374S	NM_001135999.1	NP_001129471.1	WXS	Illumina GAIIx	Phase_I	Q8N2Y8	RUSC2_HUMAN	Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)		2	1689	+			374					A2RU62|A7E2A9|O15080|Q5W134|Q641Q6|Q6P1W7	Missense_Mutation	SNP	ENST00000455600.1	37	c.1120C>T	CCDS35008.1	.	.	.	.	.	.	.	.	.	.	C	8.394	0.840338	0.16891	.	.	ENSG00000198853	ENST00000361226;ENST00000455600;ENST00000543478	T;T	0.23754	1.89;1.89	5.48	5.48	0.80851	.	0.236264	0.38720	N	0.001594	T	0.18635	0.0447	N	0.24115	0.695	0.28466	N	0.915667	P	0.45126	0.851	B	0.39339	0.297	T	0.09530	-1.0670	10	0.46703	T	0.11	-8.0557	13.8919	0.63744	0.1621:0.8379:0.0:0.0	.	374	Q8N2Y8	RUSC2_HUMAN	S	374	ENSP00000355177:P374S;ENSP00000393922:P374S	ENSP00000355177:P374S	P	+	1	0	RUSC2	35537638	1.000000	0.71417	1.000000	0.80357	0.414000	0.31173	2.622000	0.46427	2.569000	0.86673	0.655000	0.94253	CCA		0.547	RUSC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052309.1	XM_048462		4	108	0	0	0	1	0	4	108				
SEMG1	6406	broad.mit.edu	37	20	43837052	43837052	+	Missense_Mutation	SNP	C	C	A	rs199672858	byFrequency	TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr20:43837052C>A	ENST00000372781.3	+	2	1171	c.1114C>A	c.(1114-1116)Cgc>Agc	p.R372S	SEMG1_ENST00000244069.6_Missense_Mutation_p.R312S	NM_003007.3	NP_002998.1	P04279	SEMG1_HUMAN	semenogelin I	372	2 X 60 AA tandem repeats, type 1.|Repeat-rich region. {ECO:0000250}.		R -> L (in dbSNP:rs2233887). {ECO:0000269|PubMed:14629036}.		insemination (GO:0007320)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|secretory granule (GO:0030141)	structural molecule activity (GO:0005198)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.0122)				TGTATCCCAACGCAGTATTTA	0.418																																						ENST00000372781.3																			0				cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	32						c.(1114-1116)Cgc>Agc		semenogelin I							77.0	71.0	73.0					20																	43837052		2203	4300	6503	SO:0001583	missense	6406							g.chr20:43837052C>A		CCDS13345.1	20q12-q13.2	2009-08-06			ENSG00000124233	ENSG00000124233			10742	protein-coding gene	gene with protein product	"""semen coagulating protein"", ""cancer/testis antigen 103"""	182140		SEMG		2912989, 15563730	Standard	NM_003007		Approved	CT103		P04279	OTTHUMG00000032565	ENST00000372781.3:c.1114C>A	20.37:g.43837052C>A	ENSP00000361867:p.Arg372Ser		Somatic				SEMG1_ENST00000244069.6_Missense_Mutation_p.R312S	p.R372S	NM_003007.3	NP_002998.1	WXS	Illumina GAIIx	Phase_I					2	1171	+		Myeloproliferative disorder(115;0.0122)						Q53ZV0|Q53ZV1|Q53ZV2|Q6X4I9|Q6Y809|Q6Y822|Q6Y823|Q86U64|Q96QM3	Missense_Mutation	SNP	ENST00000372781.3	37	c.1114C>A	CCDS13345.1	.	.	.	.	.	.	.	.	.	.	A	0.011	-1.712711	0.00712	.	.	ENSG00000124233	ENST00000244069;ENST00000372781	T;T	0.03951	3.75;3.75	0.951	-1.9	0.07665	.	.	.	.	.	T	0.00754	0.0025	N	0.00082	-2.215	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.34079	-0.9843	9	0.09590	T	0.72	.	0.297	0.00267	0.2228:0.2395:0.2981:0.2396	.	312;372	P04279-2;P04279	.;SEMG1_HUMAN	S	312;372	ENSP00000244069:R312S;ENSP00000361867:R372S	ENSP00000244069:R312S	R	+	1	0	SEMG1	43270466	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-0.965000	0.03829	-2.064000	0.00888	-1.625000	0.00788	CGC		0.418	SEMG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079416.3	NM_003007		5	194	1	0	0.00116845	1	0.00123755	5	194				
SNX25	83891	broad.mit.edu	37	4	186263224	186263224	+	Missense_Mutation	SNP	C	C	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr4:186263224C>T	ENST00000504273.1	+	12	1943	c.1649C>T	c.(1648-1650)cCc>cTc	p.P550L	SNX25_ENST00000264694.8_Missense_Mutation_p.P550L|SNX25_ENST00000512853.1_3'UTR			Q9H3E2	SNX25_HUMAN	sorting nexin 25	550	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|protein transport (GO:0015031)|receptor catabolic process (GO:0032801)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	endosome (GO:0005768)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(8)|lung(13)|ovary(2)|pancreas(2)|prostate(2)|urinary_tract(2)	40		all_lung(41;1.03e-13)|Lung NSC(41;2.5e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;2.13e-24)|Epithelial(43;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.6e-11)|BRCA - Breast invasive adenocarcinoma(30;0.00013)|Colorectal(24;0.000165)|GBM - Glioblastoma multiforme(59;0.000357)|COAD - Colon adenocarcinoma(29;0.000887)|STAD - Stomach adenocarcinoma(60;0.00118)|LUSC - Lung squamous cell carcinoma(40;0.0129)|READ - Rectum adenocarcinoma(43;0.228)		TGGACGGTCCCCAGAAGGCTC	0.438																																						ENST00000504273.1																			0				NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(8)|lung(13)|ovary(2)|pancreas(2)|prostate(2)|urinary_tract(2)	40						c.(1648-1650)cCc>cTc		sorting nexin 25							153.0	153.0	153.0					4																	186263224		2203	4300	6503	SO:0001583	missense	83891				cell communication|protein transport	endosome membrane	phosphatidylinositol binding|signal transducer activity	g.chr4:186263224C>T	AF113223	CCDS34116.1	4q35.1	2011-05-03			ENSG00000109762	ENSG00000109762		"""Sorting nexins"""	21883	protein-coding gene	gene with protein product						12461558	Standard	NM_031953		Approved	SBBI31	uc003ixh.3	Q9H3E2	OTTHUMG00000160475	ENST00000504273.1:c.1649C>T	4.37:g.186263224C>T	ENSP00000426255:p.Pro550Leu		Somatic				SNX25_ENST00000512853.1_3'UTR|SNX25_ENST00000264694.8_Missense_Mutation_p.P550L	p.P550L			WXS	Illumina GAIIx	Phase_I	Q9H3E2	SNX25_HUMAN		all cancers(43;2.13e-24)|Epithelial(43;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.6e-11)|BRCA - Breast invasive adenocarcinoma(30;0.00013)|Colorectal(24;0.000165)|GBM - Glioblastoma multiforme(59;0.000357)|COAD - Colon adenocarcinoma(29;0.000887)|STAD - Stomach adenocarcinoma(60;0.00118)|LUSC - Lung squamous cell carcinoma(40;0.0129)|READ - Rectum adenocarcinoma(43;0.228)	12	1943	+		all_lung(41;1.03e-13)|Lung NSC(41;2.5e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)	550			PX.		Q3ZT30|Q8N6K3	Missense_Mutation	SNP	ENST00000504273.1	37	c.1649C>T	CCDS34116.1	.	.	.	.	.	.	.	.	.	.	C	8.024	0.760316	0.15914	.	.	ENSG00000109762	ENST00000504273;ENST00000264694;ENST00000264693	T;T	0.37915	1.17;1.17	5.36	5.36	0.76844	Phox homologous domain (5);	0.276195	0.37348	N	0.002135	T	0.19685	0.0473	N	0.16903	0.455	0.51012	D	0.999905	B;B;B	0.15930	0.015;0.002;0.004	B;B;B	0.16289	0.015;0.003;0.011	T	0.12091	-1.0561	10	0.11794	T	0.64	-12.1885	8.7556	0.34643	0.1507:0.7736:0.0:0.0756	.	321;83;550	Q8N6K3;Q9H5Q8;Q9H3E2	.;.;SNX25_HUMAN	L	550;550;83	ENSP00000426255:P550L;ENSP00000264694:P550L	ENSP00000264693:P83L	P	+	2	0	SNX25	186500218	0.967000	0.33354	1.000000	0.80357	0.975000	0.68041	1.805000	0.38883	2.671000	0.90904	0.643000	0.83706	CCC		0.438	SNX25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360756.1	NM_031953		35	247	0	0	0	1	0	35	247				
CLASP1	23332	broad.mit.edu	37	2	122161947	122161947	+	Splice_Site	SNP	C	C	A			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr2:122161947C>A	ENST00000263710.4	-	26	3122	c.2733G>T	c.(2731-2733)aaG>aaT	p.K911N	CLASP1_ENST00000455322.2_Splice_Site_p.K883N|CLASP1_ENST00000397587.3_Splice_Site_p.K891N|CLASP1_ENST00000545861.1_Splice_Site_p.K658N|CLASP1_ENST00000541377.1_Splice_Site_p.K889N|CLASP1_ENST00000409078.3_Splice_Site_p.K883N|CLASP1_ENST00000541859.1_Splice_Site_p.K644N	NM_015282.2	NP_056097.1	Q7Z460	CLAP1_HUMAN	cytoplasmic linker associated protein 1	911					axon guidance (GO:0007411)|cell division (GO:0051301)|establishment of spindle orientation (GO:0051294)|establishment or maintenance of cell polarity (GO:0007163)|exit from mitosis (GO:0010458)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule anchoring (GO:0034453)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|microtubule nucleation (GO:0007020)|microtubule organizing center organization (GO:0031023)|mitotic cell cycle (GO:0000278)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of microtubule polymerization or depolymerization (GO:0031111)	cell cortex (GO:0005938)|centrosomal corona (GO:0031592)|centrosome (GO:0005813)|cortical microtubule cytoskeleton (GO:0030981)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|spindle microtubule (GO:0005876)	kinetochore binding (GO:0043515)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47	Renal(3;0.0496)					TCAGACTTACCTTGCTATGAG	0.428																																						ENST00000263710.4																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47						c.e26+1		cytoplasmic linker associated protein 1							102.0	102.0	102.0					2																	122161947		2012	4178	6190	SO:0001630	splice_region_variant	23332				axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|G2/M transition of mitotic cell cycle|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization	centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|Golgi apparatus|kinetochore microtubule	kinetochore binding|microtubule plus-end binding	g.chr2:122161947C>A	AB014522		2q14.2-q14.3	2013-01-18			ENSG00000074054	ENSG00000074054			17088	protein-coding gene	gene with protein product	"""multiple asters 1"""	605852				9734811, 10899121, 16914514	Standard	NM_015282		Approved	KIAA0622, MAST1	uc002tnc.3	Q7Z460	OTTHUMG00000153331	ENST00000263710.4:c.2733+1G>T	2.37:g.122161947C>A			Somatic				CLASP1_ENST00000541859.1_Splice_Site_p.K644_splice|CLASP1_ENST00000397587.3_Splice_Site_p.K891_splice|CLASP1_ENST00000541377.1_Splice_Site_p.K889_splice|CLASP1_ENST00000455322.2_Splice_Site_p.K883_splice|CLASP1_ENST00000409078.3_Splice_Site_p.K883_splice|CLASP1_ENST00000545861.1_Splice_Site_p.K658_splice	p.K911_splice	NM_015282.2	NP_056097.1	WXS	Illumina GAIIx	Phase_I	Q7Z460	CLAP1_HUMAN			26	3122	-	Renal(3;0.0496)		911					B7ZLX3|O75118|Q2KHQ9|Q5H9P0|Q8N5B8|Q9BQT5	Splice_Site	SNP	ENST00000263710.4	37	c.2733_splice		.	.	.	.	.	.	.	.	.	.	C	18.31	3.594792	0.66219	.	.	ENSG00000074054	ENST00000263710;ENST00000455322;ENST00000397587;ENST00000541377;ENST00000541859;ENST00000409078;ENST00000545861	T;T;T;T;T;T;T	0.66995	-0.24;-0.24;-0.24;-0.24;-0.24;-0.24;-0.24	5.52	5.52	0.82312	Armadillo-like helical (1);Armadillo-type fold (1);	0.160510	0.53938	D	0.000044	T	0.80701	0.4673	M	0.63843	1.955	0.80722	D	1	D;P;P;D	0.89917	1.0;0.952;0.695;0.972	D;P;B;P	0.87578	0.998;0.502;0.429;0.885	T	0.78964	-0.1996	9	.	.	.	-5.9206	19.4352	0.94788	0.0:1.0:0.0:0.0	.	883;891;889;911	E7EUA5;F5GWS0;B7ZLX3;Q7Z460	.;.;.;CLAP1_HUMAN	N	911;883;891;889;644;883;658	ENSP00000263710:K911N;ENSP00000389372:K883N;ENSP00000380717:K891N;ENSP00000441625:K889N;ENSP00000441770:K644N;ENSP00000386442:K883N;ENSP00000438620:K658N	.	K	-	3	2	CLASP1	121878417	1.000000	0.71417	1.000000	0.80357	0.401000	0.30781	7.506000	0.81665	2.599000	0.87857	0.563000	0.77884	AAG		0.428	CLASP1-201	KNOWN	basic	protein_coding	protein_coding		NM_015282	Missense_Mutation	3	44	1	0	1	1	1	3	44				
EDC4	23644	broad.mit.edu	37	16	67914536	67914536	+	Missense_Mutation	SNP	G	G	A			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr16:67914536G>A	ENST00000358933.5	+	18	2413	c.2174G>A	c.(2173-2175)aGc>aAc	p.S725N	CTC-479C5.10_ENST00000572067.1_lincRNA|AC040162.1_ENST00000408599.1_RNA	NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN	enhancer of mRNA decapping 4	725					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		GCCTCCCCTAGCCGCACTCGT	0.632																																						ENST00000358933.5																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41						c.(2173-2175)aGc>aAc		enhancer of mRNA decapping 4							160.0	160.0	160.0					16																	67914536		2198	4300	6498	SO:0001583	missense	23644				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding	g.chr16:67914536G>A	U17474	CCDS10849.1	16q22.1	2008-02-05			ENSG00000038358	ENSG00000038358			17157	protein-coding gene	gene with protein product		606030				9067524	Standard	NM_014329		Approved	RCD-8, Ge-1, HEDLS	uc002eur.3	Q6P2E9	OTTHUMG00000137543	ENST00000358933.5:c.2174G>A	16.37:g.67914536G>A	ENSP00000351811:p.Ser725Asn		Somatic					p.S725N	NM_014329.4	NP_055144.3	WXS	Illumina GAIIx	Phase_I	Q6P2E9	EDC4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	18	2413	+		Ovarian(137;0.0563)	725					A6NGM1|A8K4T4|Q13025|Q13826|Q6ZR12|Q7Z6H7	Missense_Mutation	SNP	ENST00000358933.5	37	c.2174G>A	CCDS10849.1	.	.	.	.	.	.	.	.	.	.	G	18.69	3.678696	0.68042	.	.	ENSG00000038358	ENST00000358933	.	.	.	5.47	4.49	0.54785	.	0.041369	0.85682	D	0.000000	T	0.30603	0.0770	N	0.08118	0	0.39250	D	0.964022	B	0.26672	0.156	B	0.24541	0.054	T	0.18650	-1.0330	9	0.25751	T	0.34	-11.2381	12.4541	0.55693	0.0:0.398:0.602:0.0	.	725	Q6P2E9	EDC4_HUMAN	N	725	.	ENSP00000351811:S725N	S	+	2	0	EDC4	66472037	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.307000	0.59123	2.560000	0.86352	0.591000	0.81541	AGC		0.632	EDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268874.2	NM_014329		4	171	0	0	0	1	0	4	171				
ATP13A3	79572	broad.mit.edu	37	3	194157925	194157925	+	Missense_Mutation	SNP	G	G	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr3:194157925G>T	ENST00000439040.1	-	20	2810	c.2019C>A	c.(2017-2019)aaC>aaA	p.N673K	ATP13A3_ENST00000256031.4_Missense_Mutation_p.N673K			Q9H7F0	AT133_HUMAN	ATPase type 13A3	673						integral component of membrane (GO:0016021)|membrane (GO:0016020)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		CTTCCAAAACGTTTTGAAAAT	0.348																																						ENST00000439040.1																			0				NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24						c.(2017-2019)aaC>aaA		ATPase type 13A3							112.0	105.0	107.0					3																	194157925		1810	4086	5896	SO:0001583	missense	79572				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr3:194157925G>T	AJ306929	CCDS43187.1	3q29	2010-04-20			ENSG00000133657	ENSG00000133657		"""ATPases / P-type"""	24113	protein-coding gene	gene with protein product	"""ATPase family homolog up regulated in senescence cells"""	610232				11867234	Standard	NM_024524		Approved	AFURS1	uc003fty.4	Q9H7F0	OTTHUMG00000156034	ENST00000439040.1:c.2019C>A	3.37:g.194157925G>T	ENSP00000416508:p.Asn673Lys		Somatic				ATP13A3_ENST00000256031.4_Missense_Mutation_p.N673K	p.N673K			WXS	Illumina GAIIx	Phase_I	Q9H7F0	AT133_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)	20	2810	-	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	673					Q8NC11|Q96KS1	Missense_Mutation	SNP	ENST00000439040.1	37	c.2019C>A	CCDS43187.1	.	.	.	.	.	.	.	.	.	.	G	0.583	-0.836091	0.02713	.	.	ENSG00000133657	ENST00000439040;ENST00000256031;ENST00000310773	T;T	0.63913	-0.07;-0.07	6.04	-3.97	0.04094	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.536185	0.24226	N	0.040399	T	0.24661	0.0598	N	0.04162	-0.26	0.19575	N	0.999967	B	0.02656	0.0	B	0.08055	0.003	T	0.14337	-1.0476	10	0.15952	T	0.53	-9.9315	0.7268	0.00950	0.3646:0.1847:0.275:0.1757	.	673	Q9H7F0	AT133_HUMAN	K	673;673;411	ENSP00000416508:N673K;ENSP00000256031:N673K	ENSP00000256031:N673K	N	-	3	2	ATP13A3	195639214	0.444000	0.25649	0.793000	0.32043	0.920000	0.55202	-0.253000	0.08794	-0.634000	0.05538	-1.088000	0.02184	AAC		0.348	ATP13A3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342799.2	NM_024524		10	213	1	0	1.76689e-08	1	1.96654e-08	10	213				
SLC44A4	80736	broad.mit.edu	37	6	31842504	31842504	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr6:31842504C>T	ENST00000229729.6	-	6	482	c.462G>A	c.(460-462)tgG>tgA	p.W154*	SLC44A4_ENST00000375562.4_Intron|SLC44A4_ENST00000465707.1_5'UTR|SLC44A4_ENST00000544672.1_Nonsense_Mutation_p.W78*	NM_025257.2	NP_079533.2	Q53GD3	CTL4_HUMAN	solute carrier family 44, member 4	154					acetylcholine biosynthetic process (GO:0008292)|acetylcholine secretion (GO:0061526)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|positive regulation of cell growth (GO:0030307)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(1)|urinary_tract(2)	35					Choline(DB00122)	TCACCATATTCCAGGGTACCC	0.532																																						ENST00000544672.1																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(1)|urinary_tract(2)	35						c.(232-234)tgG>tgA		solute carrier family 44, member 4	Choline(DB00122)						72.0	66.0	68.0					6																	31842504		2203	4300	6503	SO:0001587	stop_gained	80736					integral to membrane|plasma membrane	choline transmembrane transporter activity	g.chr6:31842504C>T	AF134726	CCDS4724.2, CCDS54989.1, CCDS54990.1	6p21.3	2014-02-17	2005-09-06	2005-09-06	ENSG00000204385	ENSG00000204385		"""Solute carriers"""	13941	protein-coding gene	gene with protein product		606107	"""chromosome 6 open reading frame 29"""	C6orf29		10677542, 15715662, 24379411	Standard	NM_025257		Approved	NG22, CTL4, FLJ14491, TPPT	uc010jti.3	Q53GD3	OTTHUMG00000031133	ENST00000229729.6:c.462G>A	6.37:g.31842504C>T	ENSP00000229729:p.Trp154*		Somatic				SLC44A4_ENST00000375562.4_Intron|SLC44A4_ENST00000229729.6_Nonsense_Mutation_p.W154*|SLC44A4_ENST00000465707.1_5'UTR	p.W78*	NM_001178045.1	NP_001171516.1	WXS	Illumina GAIIx	Phase_I	Q53GD3	CTL4_HUMAN			6	530	-			154					A2BED3|B0UXX8|B0UZY8|B4DU94|B4DWM2|E9PEK7|Q5JP84|Q5JQ93|Q658S8|Q6UX89|Q8TEW4|Q96C58|Q96K59|Q9Y332	Nonsense_Mutation	SNP	ENST00000229729.6	37	c.234G>A	CCDS4724.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.8|20.8	4.055246|4.055246	0.75960|0.75960	.|.	.|.	ENSG00000204385|ENSG00000204385	ENST00000414427|ENST00000229729;ENST00000544672	.|.	.|.	.|.	4.9|4.9	-2.07|-2.07	0.07276|0.07276	.|.	.|2.450880	.|0.01241	.|N	.|0.008608	T|.	0.05502|.	0.0145|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.17531|.	-1.0366|.	3|.	.|0.33940	.|T	.|0.23	-25.71|-25.71	0.9859|0.9859	0.01446|0.01446	0.2817:0.2782:0.2772:0.1629|0.2817:0.2782:0.2772:0.1629	.|.	.|.	.|.	.|.	E|X	150|154;78	.|.	.|ENSP00000229729:W154X	G|W	-|-	2|3	0|0	SLC44A4|SLC44A4	31950483|31950483	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.860000|0.860000	0.49131|0.49131	-0.431000|-0.431000	0.06965|0.06965	-0.185000|-0.185000	0.10550|0.10550	0.655000|0.655000	0.94253|0.94253	GGA|TGG		0.532	SLC44A4-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076234.3			29	69	0	0	0	1	0	29	69				
OR2AK2	391191	broad.mit.edu	37	1	248128995	248128995	+	Missense_Mutation	SNP	C	C	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr1:248128995C>T	ENST00000366480.3	+	1	461	c.362C>T	c.(361-363)gCc>gTc	p.A121V	OR2L13_ENST00000366478.2_Intron	NM_001004491.1	NP_001004491.1	Q8NG84	O2AK2_HUMAN	olfactory receptor, family 2, subfamily AK, member 2	121						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			GTGTTCTTGGCCCTTGGTGGA	0.443																																					Melanoma(45;390 1181 23848 28461 41504)	ENST00000366480.3																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36						c.(361-363)gCc>gTc		olfactory receptor, family 2, subfamily AK, member 2							383.0	338.0	353.0					1																	248128995		2203	4300	6503	SO:0001583	missense	391191				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248128995C>T	BK004457	CCDS31102.1	1q44	2012-08-09			ENSG00000187080	ENSG00000187080		"""GPCR / Class A : Olfactory receptors"""	19569	protein-coding gene	gene with protein product				OR2AK1P			Standard	NM_001004491		Approved		uc010pzd.2	Q8NG84	OTTHUMG00000040201	ENST00000366480.3:c.362C>T	1.37:g.248128995C>T	ENSP00000355436:p.Ala121Val		Somatic				OR2L13_ENST00000366478.2_Intron	p.A121V	NM_001004491.1	NP_001004491.1	WXS	Illumina GAIIx	Phase_I	Q8NG84	O2AK2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0152)		1	461	+	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		121					B2RND1|Q6IF05	Missense_Mutation	SNP	ENST00000366480.3	37	c.362C>T	CCDS31102.1	.	.	.	.	.	.	.	.	.	.	.	10.52	1.373613	0.24857	.	.	ENSG00000187080	ENST00000366480	T	0.02177	4.41	3.03	-1.39	0.08997	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.01320	0.0043	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.14023	0.01	T	0.46582	-0.9181	9	0.72032	D	0.01	.	4.2082	0.10498	0.0:0.2336:0.3455:0.421	.	121	Q8NG84	O2AK2_HUMAN	V	121	ENSP00000355436:A121V	ENSP00000355436:A121V	A	+	2	0	OR2AK2	246195618	0.000000	0.05858	0.000000	0.03702	0.075000	0.17131	-1.662000	0.01970	-0.161000	0.10983	-0.391000	0.06502	GCC		0.443	OR2AK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096858.2	NM_001004491		5	451	0	0	0	1	0	5	451				
TLN2	83660	broad.mit.edu	37	15	63030431	63030431	+	Missense_Mutation	SNP	C	C	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr15:63030431C>T	ENST00000561311.1	+	29	3816	c.3586C>T	c.(3586-3588)Cac>Tac	p.H1196Y	TLN2_ENST00000306829.6_Missense_Mutation_p.H1196Y|TLN2_ENST00000559908.1_3'UTR			Q9Y4G6	TLN2_HUMAN	talin 2	1196					cell adhesion (GO:0007155)|cell-cell junction assembly (GO:0007043)|cytoskeletal anchoring at plasma membrane (GO:0007016)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	actin binding (GO:0003779)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						AGCCGTCTCACACTCCTTGAA	0.493																																						ENST00000561311.1																			0				NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						c.(3586-3588)Cac>Tac		talin 2							143.0	125.0	131.0					15																	63030431		2203	4300	6503	SO:0001583	missense	83660				cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton	g.chr15:63030431C>T	AB002318	CCDS32261.1	15q15-q21	2008-07-03			ENSG00000171914	ENSG00000171914			15447	protein-coding gene	gene with protein product		607349				9205841, 11527381	Standard	NM_015059		Approved	KIAA0320, ILWEQ	uc002alb.4	Q9Y4G6	OTTHUMG00000133679	ENST00000561311.1:c.3586C>T	15.37:g.63030431C>T	ENSP00000453508:p.His1196Tyr		Somatic				TLN2_ENST00000306829.6_Missense_Mutation_p.H1196Y|TLN2_ENST00000559908.1_3'UTR	p.H1196Y			WXS	Illumina GAIIx	Phase_I	Q9Y4G6	TLN2_HUMAN			29	3816	+			1196					A6NLB8	Missense_Mutation	SNP	ENST00000561311.1	37	c.3586C>T	CCDS32261.1	.	.	.	.	.	.	.	.	.	.	C	9.962	1.222949	0.22457	.	.	ENSG00000171914	ENST00000306829	T	0.13901	2.55	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.18882	0.0453	L	0.40543	1.245	0.80722	D	1	P	0.47191	0.891	P	0.46208	0.507	T	0.00571	-1.1665	10	0.35671	T	0.21	-19.9438	19.4352	0.94788	0.0:1.0:0.0:0.0	.	1196	Q9Y4G6	TLN2_HUMAN	Y	1196	ENSP00000303476:H1196Y	ENSP00000303476:H1196Y	H	+	1	0	TLN2	60817723	1.000000	0.71417	0.961000	0.40146	0.982000	0.71751	5.959000	0.70339	2.668000	0.90789	0.655000	0.94253	CAC		0.493	TLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257878.2			6	542	0	0	0	1	0	6	542				
CXorf22	170063	broad.mit.edu	37	X	35969399	35969399	+	Missense_Mutation	SNP	G	G	A			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chrX:35969399G>A	ENST00000297866.5	+	5	874	c.808G>A	c.(808-810)Gca>Aca	p.A270T		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	270										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						AATTAAACATGCACGTGTATA	0.418																																						ENST00000297866.5																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						c.(808-810)Gca>Aca		chromosome X open reading frame 22							79.0	69.0	72.0					X																	35969399		2202	4300	6502	SO:0001583	missense	170063							g.chrX:35969399G>A	BC027936	CCDS14237.2	Xp21.1	2014-08-07			ENSG00000165164	ENSG00000165164			28546	protein-coding gene	gene with protein product						12477932	Standard	NM_152632		Approved	MGC34831	uc004ddj.3	Q6ZTR5	OTTHUMG00000021350	ENST00000297866.5:c.808G>A	X.37:g.35969399G>A	ENSP00000297866:p.Ala270Thr		Somatic					p.A270T	NM_152632.3	NP_689845.2	WXS	Illumina GAIIx	Phase_I	Q6ZTR5	CX022_HUMAN			5	874	+			270					Q5JRM8|Q8N6X8	Missense_Mutation	SNP	ENST00000297866.5	37	c.808G>A	CCDS14237.2	.	.	.	.	.	.	.	.	.	.	G	14.04	2.415844	0.42817	.	.	ENSG00000165164	ENST00000297866	T	0.16073	2.37	5.76	5.76	0.90799	.	0.221824	0.46145	D	0.000303	T	0.36026	0.0952	M	0.74881	2.28	0.21915	N	0.999474	D	0.69078	0.997	D	0.64506	0.926	T	0.30880	-0.9963	10	0.22109	T	0.4	-19.1526	11.0655	0.47972	0.0951:0.0:0.9049:0.0	.	270	Q6ZTR5	CX022_HUMAN	T	270	ENSP00000297866:A270T	ENSP00000297866:A270T	A	+	1	0	CXorf22	35879320	0.815000	0.29118	0.120000	0.21714	0.036000	0.12997	4.148000	0.58085	2.416000	0.81992	0.513000	0.50165	GCA		0.418	CXorf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056216.2	NM_152632		39	67	0	0	0	1	0	39	67				
CARD11	84433	broad.mit.edu	37	7	2963985	2963985	+	Missense_Mutation	SNP	G	G	A	rs200736339		TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr7:2963985G>A	ENST00000396946.4	-	15	2225	c.1822C>T	c.(1822-1824)Cgc>Tgc	p.R608C		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	608					Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|nucleotide phosphorylation (GO:0046939)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cytokine production (GO:0001819)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell proliferation (GO:0042102)|regulation of apoptotic process (GO:0042981)|regulation of B cell differentiation (GO:0045577)|regulation of T cell differentiation (GO:0045580)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|thymic T cell selection (GO:0045061)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	CARD domain binding (GO:0050700)|guanylate kinase activity (GO:0004385)			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		AAGGAGTAGCGTTCGTGACTG	0.642			Mis		DLBCL																																	ENST00000396946.4				Dom	yes		7	7p22	84433	Mis	"""caspase recruitment domain family, member 11"""			L			DLBCL		0				NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150						c.(1822-1824)Cgc>Tgc		caspase recruitment domain family, member 11		G	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	93.0	77.0	83.0		1822	5.2	0.0	7		83	0,8600		0,0,4300	no	missense	CARD11	NM_032415.4	180	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	608/1155	2963985	1,13005	2203	4300	6503	SO:0001583	missense	84433				positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity	g.chr7:2963985G>A	AF322641	CCDS5336.2	7p22	2014-09-17			ENSG00000198286	ENSG00000198286			16393	protein-coding gene	gene with protein product	"""card-maguk protein 1"", ""bcl10-interacting maguk protein 3"""	607210				11278692, 11356195	Standard	NM_032415		Approved	CARMA1, BIMP3	uc003smv.3	Q9BXL7	OTTHUMG00000023023	ENST00000396946.4:c.1822C>T	7.37:g.2963985G>A	ENSP00000380150:p.Arg608Cys		Somatic					p.R608C	NM_032415.4	NP_115791.3	WXS	Illumina GAIIx	Phase_I	Q9BXL7	CAR11_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)	15	2225	-		Ovarian(82;0.0115)	608					A4D1Z7|Q2NKN7|Q548H3	Missense_Mutation	SNP	ENST00000396946.4	37	c.1822C>T	CCDS5336.2	.	.	.	.	.	.	.	.	.	.	G	7.194	0.592101	0.13812	2.27E-4	0.0	ENSG00000198286	ENST00000396946;ENST00000355508	T;T	0.34275	1.37;2.32	5.15	5.15	0.70609	.	0.374846	0.25009	N	0.033857	T	0.32675	0.0837	N	0.08118	0	0.24527	N	0.994137	D	0.76494	0.999	P	0.57846	0.828	T	0.16541	-1.0399	10	0.48119	T	0.1	-19.9497	11.628	0.51158	0.0:0.0:0.7737:0.2263	.	608	Q9BXL7	CAR11_HUMAN	C	608;79	ENSP00000380150:R608C;ENSP00000347695:R79C	ENSP00000347695:R79C	R	-	1	0	CARD11	2930511	0.864000	0.29904	0.043000	0.18650	0.525000	0.34531	3.497000	0.53295	2.416000	0.81992	0.555000	0.69702	CGC		0.642	CARD11-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059344.4	NM_032415		3	122	0	0	0	1	0	3	122				
KDM3B	51780	broad.mit.edu	37	5	137756470	137756470	+	Missense_Mutation	SNP	C	C	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr5:137756470C>T	ENST00000314358.5	+	15	3991	c.3791C>T	c.(3790-3792)gCa>gTa	p.A1264V	KDM3B_ENST00000508386.1_3'UTR|KDM3B_ENST00000394866.1_Missense_Mutation_p.A920V|KDM3B_ENST00000542866.1_Missense_Mutation_p.A296V	NM_016604.3	NP_057688	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	1264					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						AACTCCACTGCAAAGGTCTCT	0.512																																						ENST00000314358.5																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						c.(3790-3792)gCa>gTa		lysine (K)-specific demethylase 3B							96.0	95.0	95.0					5																	137756470		2203	4300	6503	SO:0001583	missense	51780				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr5:137756470C>T	AF251039	CCDS34242.1	5q31	2011-07-01	2009-04-06	2009-04-06	ENSG00000120733	ENSG00000120733		"""Chromatin-modifying enzymes / K-demethylases"""	1337	protein-coding gene	gene with protein product		609373	"""chromosome 5 open reading frame 7"", ""jumonji domain containing 1B"""	C5orf7, JMJD1B		15138608	Standard	NM_016604		Approved	KIAA1082, NET22	uc003lcy.1	Q7LBC6	OTTHUMG00000163469	ENST00000314358.5:c.3791C>T	5.37:g.137756470C>T	ENSP00000326563:p.Ala1264Val		Somatic				KDM3B_ENST00000394866.1_Missense_Mutation_p.A920V|KDM3B_ENST00000542866.1_Missense_Mutation_p.A296V|KDM3B_ENST00000508386.1_3'UTR	p.A1264V	NM_016604.3	NP_057688.2	WXS	Illumina GAIIx	Phase_I	Q7LBC6	KDM3B_HUMAN			15	3991	+			1264					A6H8X7|Q9BVH6|Q9BW93|Q9BZ52|Q9NYF4|Q9UPS0	Missense_Mutation	SNP	ENST00000314358.5	37	c.3791C>T	CCDS34242.1	.	.	.	.	.	.	.	.	.	.	C	18.97	3.736312	0.69189	.	.	ENSG00000120733	ENST00000314358;ENST00000545151;ENST00000394866;ENST00000542866	T;T;T	0.70631	0.09;-0.5;-0.48	5.76	5.76	0.90799	.	0.161451	0.56097	D	0.000029	T	0.50718	0.1632	N	0.04959	-0.14	0.38265	D	0.941993	B;B	0.12630	0.002;0.006	B;B	0.10450	0.005;0.004	T	0.52540	-0.8562	10	0.46703	T	0.11	-23.2761	13.2004	0.59765	0.0:0.9272:0.0:0.0728	.	920;1264	Q7LBC6-2;Q7LBC6	.;KDM3B_HUMAN	V	1264;1054;920;296	ENSP00000326563:A1264V;ENSP00000378335:A920V;ENSP00000439462:A296V	ENSP00000326563:A1264V	A	+	2	0	KDM3B	137784369	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.592000	0.67543	2.717000	0.92951	0.655000	0.94253	GCA		0.512	KDM3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373597.1	NM_016604		5	431	0	0	0	1	0	5	431				
PPARG	5468	broad.mit.edu	37	3	12421288	12421288	+	Missense_Mutation	SNP	C	C	G			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr3:12421288C>G	ENST00000287820.6	+	2	289	c.168C>G	c.(166-168)caC>caG	p.H56Q	PPARG_ENST00000397000.1_Missense_Mutation_p.H28Q|PPARG_ENST00000397012.2_Missense_Mutation_p.H28Q|PPARG_ENST00000397015.2_Missense_Mutation_p.H28Q|PPARG_ENST00000397010.2_Missense_Mutation_p.H28Q|PPARG_ENST00000539812.1_Missense_Mutation_p.H26Q|PPARG_ENST00000397026.2_Missense_Mutation_p.H34Q|PPARG_ENST00000309576.6_Missense_Mutation_p.H28Q	NM_015869.4	NP_056953.2	P37231	PPARG_HUMAN	peroxisome proliferator-activated receptor gamma	56					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|brown fat cell differentiation (GO:0050873)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|cellular response to insulin stimulus (GO:0032869)|cellular response to lithium ion (GO:0071285)|epithelial cell differentiation (GO:0030855)|fatty acid oxidation (GO:0019395)|G-protein coupled receptor signaling pathway (GO:0007186)|gene expression (GO:0010467)|glucose homeostasis (GO:0042593)|heart development (GO:0007507)|innate immune response (GO:0045087)|lipid homeostasis (GO:0055088)|lipid metabolic process (GO:0006629)|lipoprotein transport (GO:0042953)|long-chain fatty acid transport (GO:0015909)|low-density lipoprotein particle receptor biosynthetic process (GO:0045713)|monocyte differentiation (GO:0030224)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of cell growth (GO:0030308)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of interferon-gamma-mediated signaling pathway (GO:0060336)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of receptor biosynthetic process (GO:0010871)|negative regulation of sequestering of triglyceride (GO:0010891)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of telomerase activity (GO:0051974)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|organ regeneration (GO:0031100)|peroxisome proliferator activated receptor signaling pathway (GO:0035357)|placenta development (GO:0001890)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of fatty acid oxidation (GO:0046321)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of blood pressure (GO:0008217)|regulation of cholesterol transporter activity (GO:0060694)|regulation of transcription involved in cell fate commitment (GO:0060850)|response to caffeine (GO:0031000)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to lipid (GO:0033993)|response to low-density lipoprotein particle (GO:0055098)|response to nutrient (GO:0007584)|response to retinoic acid (GO:0032526)|response to vitamin A (GO:0033189)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|white fat cell differentiation (GO:0050872)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	activating transcription factor binding (GO:0033613)|arachidonic acid binding (GO:0050544)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|prostaglandin receptor activity (GO:0004955)|retinoid X receptor binding (GO:0046965)|RNA polymerase II regulatory region DNA binding (GO:0001012)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)		PAX8/PPARG(117)	breast(2)|endometrium(4)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20					Balsalazide(DB01014)|Bezafibrate(DB01393)|Glipizide(DB01067)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Mesalazine(DB00244)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rosiglitazone(DB00412)|Sulfasalazine(DB00795)|Telmisartan(DB00966)	TGGAAGACCACTCCCACTCCT	0.458			T	PAX8	follicular thyroid		"""Insulin resistance ; lipodystrophy, familial partial L;diabetes mellitus, insulin-resistantI, with acanthosis nigricans and hypertension"""																															ENST00000397026.2				Dom	yes		3	3p25	5468	T	"""peroxisome proliferative activated receptor, gamma"""	yes	"""Insulin resistance ; lipodystrophy, familial partial L;diabetes mellitus, insulin-resistantI, with acanthosis nigricans and hypertension"""	E	PAX8		follicular thyroid	PAX8/PPARG(117)	0				breast(2)|endometrium(4)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20						c.(100-102)caC>caG		peroxisome proliferator-activated receptor gamma	Atorvastatin(DB01076)|Icosapent(DB00159)|Pioglitazone(DB01132)|Rosiglitazone(DB00412)|Troglitazone(DB00197)						187.0	161.0	170.0					3																	12421288		2203	4300	6503	SO:0001583	missense	5468				activation of caspase activity|cell fate commitment|cell maturation|cellular response to insulin stimulus|epithelial cell differentiation|glucose homeostasis|induction of apoptosis|innate immune response|lipid homeostasis|lipoprotein transport|long-chain fatty acid transport|low-density lipoprotein particle receptor biosynthetic process|monocyte differentiation|negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|placenta development|positive regulation of fat cell differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to lipid|response to low-density lipoprotein particle stimulus|white fat cell differentiation	cytosol|nucleoplasm	activating transcription factor binding|arachidonic acid binding|drug binding|enzyme binding|prostaglandin receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr3:12421288C>G	X90563	CCDS2609.1, CCDS2610.2	3p25	2013-01-16	2006-10-17		ENSG00000132170	ENSG00000132170		"""Nuclear hormone receptors"""	9236	protein-coding gene	gene with protein product		601487	"""peroxisome proliferative activated receptor, gamma"""			7862171, 9750197	Standard	NM_005037		Approved	PPARG1, PPARG2, NR1C3, PPARgamma	uc003bwx.3	P37231	OTTHUMG00000129764	ENST00000287820.6:c.168C>G	3.37:g.12421288C>G	ENSP00000287820:p.His56Gln		Somatic				PPARG_ENST00000397012.2_Missense_Mutation_p.H28Q|PPARG_ENST00000539812.1_Missense_Mutation_p.H26Q|PPARG_ENST00000309576.6_Missense_Mutation_p.H28Q|PPARG_ENST00000397000.1_Missense_Mutation_p.H28Q|PPARG_ENST00000397010.2_Missense_Mutation_p.H28Q|PPARG_ENST00000287820.6_Missense_Mutation_p.H56Q|PPARG_ENST00000397015.2_Missense_Mutation_p.H28Q	p.H34Q			WXS	Illumina GAIIx	Phase_I	P37231	PPARG_HUMAN			4	485	+			56					A8K3G6|B5BUA1|O00684|O00710|O14515|Q0QJH8|Q15178|Q15179|Q15180|Q15832|Q86U60|Q96J12	Missense_Mutation	SNP	ENST00000287820.6	37	c.102C>G	CCDS2609.1	.	.	.	.	.	.	.	.	.	.	C	16.08	3.021070	0.54576	.	.	ENSG00000132170	ENST00000397010;ENST00000397029;ENST00000309576;ENST00000397015;ENST00000455517;ENST00000397012;ENST00000397026;ENST00000438682;ENST00000397000;ENST00000539812;ENST00000287820	T;T;T;T;T;T;T;T;T;T;T	0.44482	0.92;0.92;0.92;0.92;0.92;0.92;0.92;0.92;0.92;0.92;0.92	5.8	3.03	0.35002	.	0.350663	0.31760	N	0.007110	T	0.33904	0.0879	L	0.47716	1.5	0.35792	D	0.822481	P;B;P	0.44521	0.837;0.001;0.75	P;B;B	0.44394	0.448;0.005;0.248	T	0.34004	-0.9846	10	0.12103	T	0.63	.	8.0288	0.30453	0.0:0.6585:0.1137:0.2277	.	56;42;28	P37231;Q4W4C7;E9PFX5	PPARG_HUMAN;.;.	Q	28;28;28;28;28;28;34;28;28;26;56	ENSP00000380205:H28Q;ENSP00000380224:H28Q;ENSP00000312472:H28Q;ENSP00000380210:H28Q;ENSP00000411931:H28Q;ENSP00000380207:H28Q;ENSP00000380221:H34Q;ENSP00000392285:H28Q;ENSP00000380196:H28Q;ENSP00000438940:H26Q;ENSP00000287820:H56Q	ENSP00000287820:H56Q	H	+	3	2	PPARG	12396288	1.000000	0.71417	0.980000	0.43619	0.798000	0.45092	1.219000	0.32479	0.800000	0.34041	-0.237000	0.12165	CAC		0.458	PPARG-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251979.2	NM_005037		4	276	0	0	0	1	0	4	276				
NAV3	89795	broad.mit.edu	37	12	78225248	78225248	+	Missense_Mutation	SNP	G	G	A			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr12:78225248G>A	ENST00000397909.2	+	1	180	c.7G>A	c.(7-9)Gtt>Att	p.V3I	NAV3_ENST00000228327.6_Missense_Mutation_p.V3I|NAV3_ENST00000536525.2_Missense_Mutation_p.V3I|NAV3_ENST00000266692.7_Missense_Mutation_p.V3I			Q8IVL0	NAV3_HUMAN	neuron navigator 3	3						membrane (GO:0016020)|nuclear envelope (GO:0005635)				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						AGCCATGCCTGTTCTTGGGGT	0.443										HNSCC(70;0.22)																												ENST00000397909.2																			0				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						c.(7-9)Gtt>Att		neuron navigator 3							193.0	193.0	193.0					12																	78225248		1859	4104	5963	SO:0001583	missense	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78225248G>A	AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.7G>A	12.37:g.78225248G>A	ENSP00000381007:p.Val3Ile	HNSCC(70;0.22)	Somatic				NAV3_ENST00000266692.7_Missense_Mutation_p.V3I|NAV3_ENST00000228327.6_Missense_Mutation_p.V3I|NAV3_ENST00000536525.2_Missense_Mutation_p.V3I	p.V3I			WXS	Illumina GAIIx	Phase_I	Q8IVL0	NAV3_HUMAN			1	180	+			3					Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	ENST00000397909.2	37	c.7G>A		.	.	.	.	.	.	.	.	.	.	G	18.25	3.582532	0.65992	.	.	ENSG00000067798	ENST00000549464;ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692	T;T;T;T;T	0.60797	0.16;1.68;1.67;1.68;1.57	5.69	5.69	0.88448	Calponin homology domain (1);	.	.	.	.	T	0.65575	0.2704	N	0.19112	0.55	0.80722	D	1	D;D	0.61697	0.984;0.99	D;D	0.73380	0.956;0.98	T	0.68644	-0.5354	9	0.59425	D	0.04	-11.4444	19.8101	0.96543	0.0:0.0:1.0:0.0	.	3;3	Q8IVL0;Q8IVL0-2	NAV3_HUMAN;.	I	3	ENSP00000446628:V3I;ENSP00000446132:V3I;ENSP00000381007:V3I;ENSP00000228327:V3I;ENSP00000266692:V3I	ENSP00000228327:V3I	V	+	1	0	NAV3	76749379	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	7.932000	0.87634	2.696000	0.92011	0.655000	0.94253	GTT		0.443	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		7	675	0	0	0	1	0	7	675				
TRIM37	4591	broad.mit.edu	37	17	57125063	57125063	+	Missense_Mutation	SNP	C	C	A			TCGA-AS-3777-01A-01D-0966-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b771fd10-af27-4da6-aa24-7ecc2d1474e0	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr17:57125063C>A	ENST00000262294.7	-	16	1907	c.1648G>T	c.(1648-1650)Gat>Tat	p.D550Y	TRIM37_ENST00000376149.3_Missense_Mutation_p.D428Y|TRIM37_ENST00000393066.3_Missense_Mutation_p.D550Y|TRIM37_ENST00000393065.2_Missense_Mutation_p.D516Y	NM_015294.3	NP_056109.1	O94972	TRI37_HUMAN	tripartite motif containing 37	550					aggresome assembly (GO:0070842)|negative regulation of centriole replication (GO:0046600)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein autoubiquitination (GO:0051865)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|peroxisome (GO:0005777)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(13)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					TCATCAATATCATTTTCTTCT	0.353									Mulibrey Nanism																													ENST00000376149.3																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(13)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.(1282-1284)Gat>Tat		tripartite motif containing 37							106.0	94.0	98.0					17																	57125063		2203	4300	6503	SO:0001583	missense	4591	Mulibrey Nanism	Familial Cancer Database	Perheentupa syndrome		perinuclear region of cytoplasm|peroxisome	ligase activity|protein binding|zinc ion binding	g.chr17:57125063C>A	AB020705	CCDS32694.1, CCDS45746.1	17q	2014-02-17	2011-01-25	2001-11-30		ENSG00000108395		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	7523	protein-coding gene	gene with protein product	"""RING-B-box-coiled-coil protein"""	605073	"""tripartite motif-containing 37"""	MUL		9106536, 10888877	Standard	NM_015294		Approved	KIAA0898, POB1, TEF3	uc002iwy.4	O94972		ENST00000262294.7:c.1648G>T	17.37:g.57125063C>A	ENSP00000262294:p.Asp550Tyr		Somatic				TRIM37_ENST00000262294.7_Missense_Mutation_p.D550Y|TRIM37_ENST00000393066.3_Missense_Mutation_p.D550Y|TRIM37_ENST00000393065.2_Missense_Mutation_p.D516Y	p.D428Y			WXS	Illumina GAIIx	Phase_I	O94972	TRI37_HUMAN			16	2091	-	Medulloblastoma(34;0.0922)|all_neural(34;0.101)		550					Q7Z3E6|Q8IYF7|Q8WYF7	Missense_Mutation	SNP	ENST00000262294.7	37	c.1282G>T	CCDS32694.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.439494	0.83885	.	.	ENSG00000108395	ENST00000393066;ENST00000262294;ENST00000376149;ENST00000393065	T;T;D;T	0.81659	0.25;0.25;-1.52;-0.17	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	D	0.85911	0.5807	L	0.32530	0.975	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.997	D	0.87223	0.2255	10	0.87932	D	0	-6.472	19.5128	0.95151	0.0:1.0:0.0:0.0	.	516;428;550	F8WEE6;O94972-2;O94972	.;.;TRI37_HUMAN	Y	550;550;428;516	ENSP00000376785:D550Y;ENSP00000262294:D550Y;ENSP00000365319:D428Y;ENSP00000376784:D516Y	ENSP00000262294:D550Y	D	-	1	0	TRIM37	54479845	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.487000	0.81328	2.605000	0.88082	0.557000	0.71058	GAT		0.353	TRIM37-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445930.1	NM_015294		5	60	1	0	0.00116845	0.001168	0.00134625	5	60				
ARAP2	116984	broad.mit.edu	37	4	36069579	36069579	+	Missense_Mutation	SNP	G	G	A	rs377015356		TCGA-AS-3777-01A-01D-0966-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b771fd10-af27-4da6-aa24-7ecc2d1474e0	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr4:36069579G>A	ENST00000303965.4	-	33	5554	c.5065C>T	c.(5065-5067)Cgg>Tgg	p.R1689W		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	1689					regulation of ARF GTPase activity (GO:0032312)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						GTTCTTGACCGTTGTAGAACC	0.358																																						ENST00000303965.4																			0				breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						c.(5065-5067)Cgg>Tgg		ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2							97.0	98.0	98.0					4																	36069579		2203	4300	6503	SO:0001583	missense	116984				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding	g.chr4:36069579G>A	AF411982	CCDS3441.1	4p15.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000047365	ENSG00000047365		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16924	protein-coding gene	gene with protein product		606645	"""centaurin, delta 1"""	CENTD1			Standard	NM_015230		Approved	PARX	uc003gsq.2	Q8WZ64	OTTHUMG00000097811	ENST00000303965.4:c.5065C>T	4.37:g.36069579G>A	ENSP00000302895:p.Arg1689Trp		Somatic					p.R1689W	NM_015230.3	NP_056045.2	WXS	Illumina GAIIx	Phase_I	Q8WZ64	ARAP2_HUMAN			33	5554	-			1689					Q4W5D2|Q7Z2L5|Q96L70|Q96P49|Q9Y4E4	Missense_Mutation	SNP	ENST00000303965.4	37	c.5065C>T	CCDS3441.1	.	.	.	.	.	.	.	.	.	.	G	16.25	3.069954	0.55539	.	.	ENSG00000047365	ENST00000303965	T	0.10573	2.86	5.79	2.62	0.31277	.	0.081885	0.48286	D	0.000197	T	0.19327	0.0464	L	0.32530	0.975	0.26832	N	0.968552	D	0.89917	1.0	D	0.65573	0.936	T	0.02391	-1.1166	10	0.87932	D	0	.	12.1751	0.54180	0.0:0.0:0.5359:0.4641	.	1689	Q8WZ64	ARAP2_HUMAN	W	1689	ENSP00000302895:R1689W	ENSP00000302895:R1689W	R	-	1	2	ARAP2	35745974	0.543000	0.26434	0.703000	0.30354	0.768000	0.43524	1.288000	0.33296	0.691000	0.31592	0.650000	0.86243	CGG		0.358	ARAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215074.2	NM_015230		15	285	0	0	0	0.004990	0	15	285				
DEPDC7	91614	broad.mit.edu	37	11	33050304	33050304	+	Missense_Mutation	SNP	G	G	T			TCGA-AS-3777-01A-01D-0966-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b771fd10-af27-4da6-aa24-7ecc2d1474e0	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr11:33050304G>T	ENST00000241051.3	+	4	840	c.748G>T	c.(748-750)Gat>Tat	p.D250Y	DEPDC7_ENST00000311388.3_Missense_Mutation_p.D241Y	NM_001077242.1	NP_001070710.1	Q96QD5	DEPD7_HUMAN	DEP domain containing 7	250					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)				endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	17						TAACTATCTGGATCGAGGGAT	0.403																																						ENST00000311388.3																			0				endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	17						c.(721-723)Gat>Tat		DEP domain containing 7							119.0	113.0	115.0					11																	33050304		1908	4132	6040	SO:0001583	missense	91614				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr11:33050304G>T		CCDS41632.1, CCDS41633.1	11p13	2006-03-24			ENSG00000121690	ENSG00000121690			29899	protein-coding gene	gene with protein product		612294				10568747	Standard	NM_001077242		Approved		uc001mub.3	Q96QD5	OTTHUMG00000166242	ENST00000241051.3:c.748G>T	11.37:g.33050304G>T	ENSP00000241051:p.Asp250Tyr		Somatic				DEPDC7_ENST00000241051.3_Missense_Mutation_p.D250Y	p.D241Y	NM_139160.2	NP_631899.2	WXS	Illumina GAIIx	Phase_I	Q96QD5	DEPD7_HUMAN			4	1097	+			250					G5E941|Q8N602|Q8NCU9|Q9UGK5	Missense_Mutation	SNP	ENST00000241051.3	37	c.721G>T	CCDS41632.1	.	.	.	.	.	.	.	.	.	.	G	19.83	3.899934	0.72754	.	.	ENSG00000121690	ENST00000241051;ENST00000311388	T;T	0.16743	2.32;2.34	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.47746	0.1462	M	0.81341	2.54	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	T	0.20306	-1.0279	10	0.38643	T	0.18	-22.4418	20.6593	0.99626	0.0:0.0:1.0:0.0	.	241;250	G5E941;Q96QD5	.;DEPD7_HUMAN	Y	250;241	ENSP00000241051:D250Y;ENSP00000308971:D241Y	ENSP00000241051:D250Y	D	+	1	0	DEPDC7	33006880	1.000000	0.71417	1.000000	0.80357	0.526000	0.34562	8.983000	0.93477	2.885000	0.99019	0.655000	0.94253	GAT		0.403	DEPDC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388655.1	NM_139160		26	174	1	0	1.17739e-12	0.005443	1.45121e-12	26	174				
PELI1	57162	broad.mit.edu	37	2	64323337	64323337	+	Silent	SNP	T	T	C	rs374621766	byFrequency	TCGA-AS-3777-01A-01D-0966-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b771fd10-af27-4da6-aa24-7ecc2d1474e0	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr2:64323337T>C	ENST00000358912.4	-	6	1054	c.612A>G	c.(610-612)ggA>ggG	p.G204G		NM_020651.3	NP_065702.2	Q96FA3	PELI1_HUMAN	pellino E3 ubiquitin protein ligase 1	204					innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cytokine production (GO:0001819)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of toll-like receptor 3 signaling pathway (GO:0034141)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|protein K48-linked ubiquitination (GO:0070936)|response to dsRNA (GO:0043331)|response to lipopolysaccharide (GO:0032496)|Toll signaling pathway (GO:0008063)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)	cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|urinary_tract(1)	19						CTCTCCATATTCCAGGCTTGG	0.438																																						ENST00000358912.4																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|urinary_tract(1)	19						c.(610-612)ggA>ggG		pellino E3 ubiquitin protein ligase 1							171.0	156.0	161.0					2																	64323337		2203	4300	6503	SO:0001819	synonymous_variant	57162				innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol		g.chr2:64323337T>C		CCDS1876.1	2p13.3	2012-02-23	2012-02-23		ENSG00000197329	ENSG00000197329		"""Pellino homologs"""	8827	protein-coding gene	gene with protein product		614797	"""pellino (Drosophila) homolog 1"", ""pellino homolog 1 (Drosophila)"""			11306823, 16951688	Standard	NM_020651		Approved		uc002sct.4	Q96FA3	OTTHUMG00000129511	ENST00000358912.4:c.612A>G	2.37:g.64323337T>C			Somatic					p.G204G	NM_020651.3	NP_065702.2	WXS	Illumina GAIIx	Phase_I	Q96FA3	PELI1_HUMAN			6	1054	-			204					Q96SM0|Q9GZY5|Q9HCX0	Silent	SNP	ENST00000358912.4	37	c.612A>G	CCDS1876.1																																																																																				0.438	PELI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251686.1	NM_020651		117	80	0	0	0	0.003610	0	117	80				
NUP210L	91181	broad.mit.edu	37	1	154067513	154067513	+	Silent	SNP	C	C	T			TCGA-AS-3777-01A-01D-0966-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b771fd10-af27-4da6-aa24-7ecc2d1474e0	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr1:154067513C>T	ENST00000368559.3	-	15	2156	c.2085G>A	c.(2083-2085)gcG>gcA	p.A695A	NUP210L_ENST00000271854.3_Silent_p.A695A	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	695					Sertoli cell development (GO:0060009)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			CTGTCTTCTCCGCATTCAATT	0.473																																						ENST00000368559.3																			0				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80						c.(2083-2085)gcG>gcA		nucleoporin 210kDa-like							86.0	80.0	82.0					1																	154067513		1845	4097	5942	SO:0001819	synonymous_variant	91181					integral to membrane		g.chr1:154067513C>T	AK125924	CCDS41399.1, CCDS53370.1	1q21.3	2008-02-05			ENSG00000143552	ENSG00000143552			29915	protein-coding gene	gene with protein product							Standard	NM_207308		Approved		uc001fdw.3	Q5VU65	OTTHUMG00000035852	ENST00000368559.3:c.2085G>A	1.37:g.154067513C>T			Somatic				NUP210L_ENST00000271854.3_Silent_p.A695A	p.A695A	NM_207308.2	NP_997191.2	WXS	Illumina GAIIx	Phase_I	Q5VU65	P210L_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)		15	2156	-	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		695					E7EP56|Q5T4L7|Q6ZRN1|Q6ZRT4|Q6ZU81|Q8NDI6|Q9UF31	Silent	SNP	ENST00000368559.3	37	c.2085G>A	CCDS41399.1																																																																																				0.473	NUP210L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087270.3	NM_207308		8	65	0	0	0	0.003080	0	8	65				
TECTA	7007	broad.mit.edu	37	11	120984322	120984322	+	Missense_Mutation	SNP	G	G	A	rs150098939	byFrequency	TCGA-AS-3777-01A-01D-0966-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b771fd10-af27-4da6-aa24-7ecc2d1474e0	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr11:120984322G>A	ENST00000392793.1	+	6	956	c.685G>A	c.(685-687)Gag>Aag	p.E229K	TECTA_ENST00000264037.2_Missense_Mutation_p.E229K			O75443	TECTA_HUMAN	tectorin alpha	229	NIDO. {ECO:0000255|PROSITE- ProRule:PRU00570}.				cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		AAGAACCCCCGAGATCGTGAA	0.478													G|||	2	0.000399361	0.0015	0.0	5008	,	,		17512	0.0		0.0	False		,,,				2504	0.0					ENST00000392793.1																		TECTA/TBCEL(2)	0				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						c.(685-687)Gag>Aag		tectorin alpha		G	LYS/GLU	4,4402	8.1+/-20.4	0,4,2199	61.0	63.0	63.0		685	5.2	1.0	11	dbSNP_134	63	0,8598		0,0,4299	yes	missense	TECTA	NM_005422.2	56	0,4,6498	AA,AG,GG		0.0,0.0908,0.0308	benign	229/2156	120984322	4,13000	2203	4299	6502	SO:0001583	missense	7007				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr11:120984322G>A	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.685G>A	11.37:g.120984322G>A	ENSP00000376543:p.Glu229Lys		Somatic				TECTA_ENST00000264037.2_Missense_Mutation_p.E229K	p.E229K			WXS	Illumina GAIIx	Phase_I	O75443	TECTA_HUMAN		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)	6	956	+	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)	229			NIDO.			Missense_Mutation	SNP	ENST00000392793.1	37	c.685G>A	CCDS8434.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	G	20.5	4.005473	0.74932	9.08E-4	0.0	ENSG00000109927	ENST00000392793;ENST00000264037	T;T	0.72167	-0.63;-0.63	5.2	5.2	0.72013	Nidogen, extracellular domain (3);	0.169550	0.50627	D	0.000108	T	0.68513	0.3009	L	0.59436	1.845	0.50813	D	0.999894	B	0.28820	0.224	B	0.25405	0.06	T	0.66064	-0.6016	10	0.37606	T	0.19	.	18.9316	0.92568	0.0:0.0:1.0:0.0	.	229	O75443	TECTA_HUMAN	K	229	ENSP00000376543:E229K;ENSP00000264037:E229K	ENSP00000264037:E229K	E	+	1	0	TECTA	120489532	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.629000	0.83207	2.691000	0.91804	0.655000	0.94253	GAG		0.478	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313850.1	NM_005422		5	149	0	0	0	0.000602	0	5	149				
ARNT	405	broad.mit.edu	37	1	150804293	150804293	+	Splice_Site	SNP	C	C	T			TCGA-AS-3777-01A-01D-0966-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b771fd10-af27-4da6-aa24-7ecc2d1474e0	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr1:150804293C>T	ENST00000358595.5	-	10	1156		c.e10+1		ARNT_ENST00000505755.1_Splice_Site|ARNT_ENST00000354396.2_Splice_Site|ARNT_ENST00000468970.1_5'UTR|ARNT_ENST00000515192.1_Splice_Site	NM_001197325.1|NM_001668.3|NM_178427.2	NP_001184254.1|NP_001659.1|NP_848514.1	P27540	ARNT_HUMAN	aryl hydrocarbon receptor nuclear translocator						cell differentiation (GO:0030154)|cellular response to hypoxia (GO:0071456)|embryonic placenta development (GO:0001892)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of glycolytic process (GO:0045821)|positive regulation of hormone biosynthetic process (GO:0046886)|positive regulation of protein sumoylation (GO:0033235)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	aryl hydrocarbon receptor activity (GO:0004874)|aryl hydrocarbon receptor binding (GO:0017162)|enhancer binding (GO:0035326)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|prostate(2)|skin(4)|stomach(1)	34	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.02)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211)			CACTTTCTTACCTGCTGGGGG	0.438			T	ETV6	AML																																	ENST00000358595.5				Dom	yes		1	1q21	405	T	aryl hydrocarbon receptor nuclear translocator			L	ETV6		AML		0				central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|prostate(2)|skin(4)|stomach(1)	34						c.e10+1		aryl hydrocarbon receptor nuclear translocator							58.0	60.0	59.0					1																	150804293		2203	4300	6503	SO:0001630	splice_region_variant	405				positive regulation of hormone biosynthetic process|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|response to hypoxia		aryl hydrocarbon receptor binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity	g.chr1:150804293C>T	AF001307	CCDS970.1, CCDS971.1, CCDS65641.1, CCDS65642.1	1q21	2013-05-21			ENSG00000143437	ENSG00000143437		"""Basic helix-loop-helix proteins"""	700	protein-coding gene	gene with protein product		126110					Standard	NM_001668		Approved	HIF-1beta, bHLHe2	uc001evr.2	P27540	OTTHUMG00000035011	ENST00000358595.5:c.955+1G>A	1.37:g.150804293C>T			Somatic				ARNT_ENST00000354396.2_Splice_Site|ARNT_ENST00000515192.1_Splice_Site|ARNT_ENST00000505755.1_Splice_Site|ARNT_ENST00000468970.1_5'UTR		NM_001197325.1|NM_001668.3|NM_178427.2	NP_001184254.1|NP_001659.1|NP_848514.1	WXS	Illumina GAIIx	Phase_I	P27540	ARNT_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.02)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211)		10	1156	-	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)							B2R9H1|C4AMA1|F8WAP6|Q59ED4|Q5QP39|Q8NDC7	Splice_Site	SNP	ENST00000358595.5	37		CCDS970.1	.	.	.	.	.	.	.	.	.	.	C	18.03	3.533461	0.64972	.	.	ENSG00000143437	ENST00000358595;ENST00000368975;ENST00000354396;ENST00000515192;ENST00000394700;ENST00000505755	.	.	.	5.0	5.0	0.66597	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.2947	0.90141	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ARNT	149070917	1.000000	0.71417	1.000000	0.80357	0.756000	0.42949	5.627000	0.67784	2.289000	0.77006	0.557000	0.71058	.		0.438	ARNT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000084741.2		Intron	5	63	0	0	0	0.000602	0	5	63				
MAX	4149	broad.mit.edu	37	14	65544756	65544756	+	Splice_Site	SNP	T	T	C			TCGA-AS-3777-01A-01D-0966-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b771fd10-af27-4da6-aa24-7ecc2d1474e0	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr14:65544756T>C	ENST00000358664.4	-	4	302		c.e4-2		MAX_ENST00000341653.2_Intron|MAX_ENST00000557277.1_Splice_Site|MAX_ENST00000557746.1_Splice_Site|MAX_ENST00000555667.1_Splice_Site|MAX_ENST00000555932.1_Intron|MAX_ENST00000556443.1_Splice_Site|MAX_ENST00000284165.6_Splice_Site|MAX_ENST00000555419.1_Splice_Site|MAX_ENST00000358402.4_Splice_Site|MAX_ENST00000556979.1_Splice_Site	NM_002382.4	NP_002373.3	P61244	MAX_HUMAN	MYC associated factor X						cellular response to peptide hormone stimulus (GO:0071375)|cellular response to starvation (GO:0009267)|negative regulation of gene expression (GO:0010629)|neuron apoptotic process (GO:0051402)|protein complex assembly (GO:0006461)|response to axon injury (GO:0048678)|response to insulin (GO:0032868)|retina development in camera-type eye (GO:0060041)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)|PML body (GO:0016605)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	17				all cancers(60;0.000776)|OV - Ovarian serous cystadenocarcinoma(108;0.00359)|BRCA - Breast invasive adenocarcinoma(234;0.00999)		CCGGGATGCCTGTGGCAATAT	0.498																																						ENST00000284165.6																			0				breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	17						c.e4-2		MYC associated factor X							91.0	80.0	84.0					14																	65544756		2203	4300	6503	SO:0001630	splice_region_variant	4149				transcription from RNA polymerase II promoter	cytoplasm|MLL1 complex	sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr14:65544756T>C		CCDS9770.1, CCDS9771.1, CCDS9772.1, CCDS9774.1, CCDS41965.1	14q23	2014-09-17	2005-02-08		ENSG00000125952	ENSG00000125952		"""Basic helix-loop-helix proteins"""	6913	protein-coding gene	gene with protein product		154950	"""MAX protein"""			1557420	Standard	NM_002382		Approved	bHLHd4, bHLHd5, bHLHd6, bHLHd7, bHLHd8	uc001xif.2	P61244	OTTHUMG00000142809	ENST00000358664.4:c.172-2A>G	14.37:g.65544756T>C			Somatic				MAX_ENST00000557746.1_Splice_Site|MAX_ENST00000556443.1_Splice_Site|MAX_ENST00000555932.1_Intron|MAX_ENST00000556979.1_Splice_Site|MAX_ENST00000555667.1_Splice_Site|MAX_ENST00000555419.1_Splice_Site|MAX_ENST00000358664.4_Splice_Site|MAX_ENST00000358402.4_Splice_Site|MAX_ENST00000557277.1_Splice_Site|MAX_ENST00000341653.2_Intron		NM_145113.1	NP_660088.1	WXS	Illumina GAIIx	Phase_I	P61244	MAX_HUMAN		all cancers(60;0.000776)|OV - Ovarian serous cystadenocarcinoma(108;0.00359)|BRCA - Breast invasive adenocarcinoma(234;0.00999)	4	320	-								A6NH73|A8K265|A8K4G4|A8K824|P25912|P52163|Q14803|Q96CY8	Splice_Site	SNP	ENST00000358664.4	37		CCDS9771.1	.	.	.	.	.	.	.	.	.	.	T	16.76	3.212460	0.58452	.	.	ENSG00000125952	ENST00000358402;ENST00000284165;ENST00000358664;ENST00000555419;ENST00000441116;ENST00000556979;ENST00000555667;ENST00000557746;ENST00000556443	.	.	.	5.18	5.18	0.71444	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.0085	0.64481	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	MAX	64614509	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.947000	0.87758	1.932000	0.55993	0.460000	0.39030	.		0.498	MAX-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286386.1	NM_197957	Intron	22	96	0	0	0	0.001523	0	22	96				
CXorf22	170063	broad.mit.edu	37	X	35969399	35969399	+	Missense_Mutation	SNP	G	G	A			TCGA-AS-3777-01A-01D-0966-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b771fd10-af27-4da6-aa24-7ecc2d1474e0	05cc3865-125d-4c09-b63a-b177ff676e78	g.chrX:35969399G>A	ENST00000297866.5	+	5	874	c.808G>A	c.(808-810)Gca>Aca	p.A270T		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	270										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						AATTAAACATGCACGTGTATA	0.418																																						ENST00000297866.5																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						c.(808-810)Gca>Aca		chromosome X open reading frame 22							79.0	69.0	72.0					X																	35969399		2202	4300	6502	SO:0001583	missense	170063							g.chrX:35969399G>A	BC027936	CCDS14237.2	Xp21.1	2014-08-07			ENSG00000165164	ENSG00000165164			28546	protein-coding gene	gene with protein product						12477932	Standard	NM_152632		Approved	MGC34831	uc004ddj.3	Q6ZTR5	OTTHUMG00000021350	ENST00000297866.5:c.808G>A	X.37:g.35969399G>A	ENSP00000297866:p.Ala270Thr		Somatic					p.A270T	NM_152632.3	NP_689845.2	WXS	Illumina GAIIx	Phase_I	Q6ZTR5	CX022_HUMAN			5	874	+			270					Q5JRM8|Q8N6X8	Missense_Mutation	SNP	ENST00000297866.5	37	c.808G>A	CCDS14237.2	.	.	.	.	.	.	.	.	.	.	G	14.04	2.415844	0.42817	.	.	ENSG00000165164	ENST00000297866	T	0.16073	2.37	5.76	5.76	0.90799	.	0.221824	0.46145	D	0.000303	T	0.36026	0.0952	M	0.74881	2.28	0.21915	N	0.999474	D	0.69078	0.997	D	0.64506	0.926	T	0.30880	-0.9963	10	0.22109	T	0.4	-19.1526	11.0655	0.47972	0.0951:0.0:0.9049:0.0	.	270	Q6ZTR5	CX022_HUMAN	T	270	ENSP00000297866:A270T	ENSP00000297866:A270T	A	+	1	0	CXorf22	35879320	0.815000	0.29118	0.120000	0.21714	0.036000	0.12997	4.148000	0.58085	2.416000	0.81992	0.513000	0.50165	GCA		0.418	CXorf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056216.2	NM_152632		18	59	0	0	0	0.006122	0	18	59				
NID1	4811	broad.mit.edu	37	1	236212062	236212062	+	Silent	SNP	G	G	A	rs201727792		TCGA-AS-3777-01A-01D-0966-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b771fd10-af27-4da6-aa24-7ecc2d1474e0	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr1:236212062G>A	ENST00000264187.6	-	2	535	c.453C>T	c.(451-453)agC>agT	p.S151S	NID1_ENST00000366595.3_Silent_p.S151S	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	151	NIDO. {ECO:0000255|PROSITE- ProRule:PRU00570}.				basement membrane organization (GO:0071711)|cell-matrix adhesion (GO:0007160)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|positive regulation of cell-substrate adhesion (GO:0010811)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|cell periphery (GO:0071944)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|laminin binding (GO:0043236)|proteoglycan binding (GO:0043394)	p.S151S(1)		breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Urokinase(DB00013)	CAACCACCGCGCTACTAGGCT	0.577													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18425	0.0		0.0	False		,,,				2504	0.0					ENST00000264187.6																			1	Substitution - coding silent(1)	p.S151S(1)	large_intestine(1)	breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66						c.(451-453)agC>agT		nidogen 1	Becaplermin(DB00102)|Urokinase(DB00013)						64.0	62.0	63.0					1																	236212062		2203	4300	6503	SO:0001819	synonymous_variant	4811				cell-matrix adhesion	basement membrane	calcium ion binding	g.chr1:236212062G>A	BC045606	CCDS1608.1	1q43	2011-05-08	2005-06-02	2005-06-02	ENSG00000116962	ENSG00000116962			7821	protein-coding gene	gene with protein product		131390	"""nidogen (enactin)"""	NID		2471408, 7557988	Standard	NM_002508		Approved	entactin	uc001hxo.3	P14543	OTTHUMG00000040071	ENST00000264187.6:c.453C>T	1.37:g.236212062G>A			Somatic				NID1_ENST00000366595.3_Silent_p.S151S	p.S151S	NM_002508.2	NP_002499.2	WXS	Illumina GAIIx	Phase_I	P14543	NID1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		2	535	-	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	151			NIDO.		Q14942|Q59FL2|Q5TAF2|Q5TAF3|Q86XD7	Silent	SNP	ENST00000264187.6	37	c.453C>T	CCDS1608.1																																																																																				0.577	NID1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096647.2	NM_002508		9	66	0	0	0	0.004482	0	9	66				
RAB43	339122	broad.mit.edu	37	3	128840237	128840237	+	Silent	SNP	C	C	A			TCGA-AS-3777-01A-01D-0966-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b771fd10-af27-4da6-aa24-7ecc2d1474e0	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr3:128840237C>A	ENST00000315150.5	-	1	396	c.96G>T	c.(94-96)acG>acT	p.T32T	RP11-434H6.6_ENST00000608909.1_RNA|RAB43_ENST00000393307.1_Silent_p.T32T|RAB43_ENST00000393308.1_Silent_p.T32T|ISY1-RAB43_ENST00000418265.1_Intron|RAB43_ENST00000393304.1_Silent_p.T32T|RAB43_ENST00000393305.1_Silent_p.T32T|RAB43_ENST00000476465.1_Silent_p.T32T	NM_001204888.1|NM_198490.2	NP_001191817.1|NP_940892.1	Q86YS6	RAB43_HUMAN	RAB43, member RAS oncogene family	32					Golgi organization (GO:0007030)|GTP catabolic process (GO:0006184)|phagosome maturation (GO:0090382)|protein transport (GO:0015031)|retrograde transport, plasma membrane to Golgi (GO:0035526)|small GTPase mediated signal transduction (GO:0007264)|virion assembly (GO:0019068)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|phagocytic vesicle (GO:0045335)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			kidney(2)|liver(1)|lung(2)|skin(1)	6						GCACCACGCACGTCTTGCCCA	0.667																																						ENST00000315150.5																			0				kidney(2)|liver(1)|lung(2)|skin(1)	6						c.(94-96)acG>acT		RAB43, member RAS oncogene family							26.0	25.0	25.0					3																	128840237		2203	4300	6503	SO:0001819	synonymous_variant	339122				protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding	g.chr3:128840237C>A	AY166852	CCDS33850.1, CCDS56275.1	3q21.3	2010-03-30			ENSG00000172780	ENSG00000172780		"""RAB, member RAS oncogene"""	19983	protein-coding gene	gene with protein product						15018353	Standard	NM_198490		Approved	RAB41, RAB11B, ISY1	uc021xdp.1	Q86YS6	OTTHUMG00000137364	ENST00000315150.5:c.96G>T	3.37:g.128840237C>A			Somatic				ISY1-RAB43_ENST00000418265.1_Intron|RAB43_ENST00000393304.1_Silent_p.T32T|RAB43_ENST00000393305.1_Silent_p.T32T|RAB43_ENST00000393308.1_Silent_p.T32T|RAB43_ENST00000476465.1_Silent_p.T32T|RAB43_ENST00000393307.1_Silent_p.T32T	p.T32T	NM_001204888.1|NM_198490.2	NP_001191817.1|NP_940892.1	WXS	Illumina GAIIx	Phase_I	Q86YS6	RAB43_HUMAN			1	396	-			32					A8K4P9|E9PBQ0	Silent	SNP	ENST00000315150.5	37	c.96G>T	CCDS33850.1																																																																																				0.667	RAB43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000267849.1	XM_290714		9	19	1	0	0.00621372	0.006214	0.00700696	9	19				
MT-ND5	4540	broad.mit.edu	37	M	12602	12602	+	Missense_Mutation	SNP	T	T	C			TCGA-AS-3777-01A-01D-0966-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b771fd10-af27-4da6-aa24-7ecc2d1474e0	05cc3865-125d-4c09-b63a-b177ff676e78	g.chrM:12602T>C	ENST00000361567.2	+	1	266	c.266T>C	c.(265-267)tTc>tCc	p.F89S	MT-TE_ENST00000387459.1_RNA|MT-CYB_ENST00000361789.2_5'Flank|MT-TR_ENST00000387439.1_RNA|MT-TS2_ENST00000387449.1_RNA|MT-TL2_ENST00000387456.1_RNA|MT-TH_ENST00000387441.1_RNA|MT-TG_ENST00000387429.1_RNA			P03915	NU5M_HUMAN	mitochondrially encoded NADH dehydrogenase 5	89					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(4)|endometrium(29)|kidney(33)|pancreas(1)|prostate(7)	74						CTCCATAATATTCATCCCTGT	0.393																																						ENST00000361567.2																			0				breast(4)|endometrium(29)|kidney(33)|pancreas(1)|prostate(7)	74						c.(265-267)tTc>tCc		mitochondrially encoded NADH dehydrogenase 5	NADH(DB00157)																																			SO:0001583	missense	4540				mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity	g.chrM:12602T>C			mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198786	ENSG00000198786	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7461	protein-coding gene	gene with protein product	"""complex I ND5 subunit"", ""NADH-ubiquinone oxidoreductase chain 5"""	516005	"""NADH dehydrogenase 5"""	MTND5			Standard			Approved	ND5, NAD5		P03915		ENST00000361567.2:c.266T>C	M.37:g.12602T>C	ENSP00000354813:p.Phe89Ser		Somatic					p.F89S			WXS	Illumina GAIIx	Phase_I	P03915	NU5M_HUMAN			1	266	+			89					Q34773|Q8WCY3	Missense_Mutation	SNP	ENST00000361567.2	37	c.266T>C																																																																																					0.393	MT-ND5-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024036		8	138	0	0	0	0.004482	0	8	138				
ITGA5	3678	broad.mit.edu	37	12	54797447	54797447	+	Missense_Mutation	SNP	C	C	T			TCGA-AS-3777-01A-01D-0966-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b771fd10-af27-4da6-aa24-7ecc2d1474e0	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr12:54797447C>T	ENST00000293379.4	-	17	1999	c.1738G>A	c.(1738-1740)Gct>Act	p.A580T	RP11-753H16.5_ENST00000552785.1_RNA|RP11-753H16.3_ENST00000550474.1_RNA	NM_002205.2	NP_002196.2	P08648	ITA5_HUMAN	integrin, alpha 5 (fibronectin receptor, alpha polypeptide)	580					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-substrate adhesion (GO:0031589)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|memory (GO:0007613)|negative regulation of anoikis (GO:2000811)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|viral process (GO:0016032)|wound healing, spreading of epidermal cells (GO:0035313)	alphav-beta3 integrin-vitronectin complex (GO:0071062)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	metal ion binding (GO:0046872)|platelet-derived growth factor receptor binding (GO:0005161)|vascular endothelial growth factor receptor 2 binding (GO:0043184)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	34						TCCTCTCGAGCCCCATTCTGG	0.627																																						ENST00000293379.4																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	34						c.(1738-1740)Gct>Act		integrin, alpha 5 (fibronectin receptor, alpha polypeptide)							86.0	83.0	84.0					12																	54797447		2203	4300	6503	SO:0001583	missense	3678				angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells	alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle	platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding	g.chr12:54797447C>T		CCDS8880.1	12q11-q13	2010-03-23				ENSG00000161638		"""CD molecules"", ""Integrins"""	6141	protein-coding gene	gene with protein product		135620		FNRA		2454952	Standard	NM_002205		Approved	CD49e	uc001sga.3	P08648	OTTHUMG00000169841	ENST00000293379.4:c.1738G>A	12.37:g.54797447C>T	ENSP00000293379:p.Ala580Thr		Somatic				RP11-753H16.5_ENST00000552785.1_RNA|RP11-753H16.3_ENST00000550474.1_RNA	p.A580T	NM_002205.2	NP_002196.2	WXS	Illumina GAIIx	Phase_I	P08648	ITA5_HUMAN			17	1999	-			580					Q96HA5	Missense_Mutation	SNP	ENST00000293379.4	37	c.1738G>A	CCDS8880.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.687621	0.88639	.	.	ENSG00000161638	ENST00000293379	T	0.46063	0.88	5.22	4.32	0.51571	Integrin alpha-2 (1);	0.190561	0.45126	D	0.000384	T	0.43500	0.1250	L	0.29908	0.895	0.37377	D	0.911877	D	0.55172	0.97	P	0.53401	0.725	T	0.51116	-0.8746	10	0.49607	T	0.09	.	13.8101	0.63256	0.0:0.8451:0.1549:0.0	.	580	P08648	ITA5_HUMAN	T	580	ENSP00000293379:A580T	ENSP00000293379:A580T	A	-	1	0	ITGA5	53083714	1.000000	0.71417	0.991000	0.47740	0.936000	0.57629	5.192000	0.65115	1.323000	0.45263	0.561000	0.74099	GCT		0.627	ITGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406174.1			27	203	0	0	0	0.004656	0	27	203				
ATP9A	10079	broad.mit.edu	37	20	50226667	50226667	+	Missense_Mutation	SNP	G	G	C			TCGA-AS-3777-01A-01D-0966-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b771fd10-af27-4da6-aa24-7ecc2d1474e0	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr20:50226667G>C	ENST00000338821.5	-	24	2873	c.2609C>G	c.(2608-2610)cCt>cGt	p.P870R	ATP9A_ENST00000402822.1_Missense_Mutation_p.P749R|ATP9A_ENST00000311637.5_Missense_Mutation_p.P734R	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	870					phospholipid translocation (GO:0045332)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						TTGATAGAGAGGGACGGAGGC	0.423																																						ENST00000338821.5																			0				breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						c.(2608-2610)cCt>cGt		ATPase, class II, type 9A							127.0	113.0	117.0					20																	50226667		2203	4300	6503	SO:0001583	missense	10079				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr20:50226667G>C	AB014511	CCDS33489.1	20q13.2	2010-04-20	2007-09-19		ENSG00000054793	ENSG00000054793		"""ATPases / P-type"""	13540	protein-coding gene	gene with protein product		609126	"""ATPase, Class II, type 9A"""			9734811, 11015572	Standard	NM_006045		Approved	KIAA0611, ATPIIA	uc002xwg.1	O75110	OTTHUMG00000032751	ENST00000338821.5:c.2609C>G	20.37:g.50226667G>C	ENSP00000342481:p.Pro870Arg		Somatic				ATP9A_ENST00000402822.1_Missense_Mutation_p.P749R|ATP9A_ENST00000311637.5_Missense_Mutation_p.P734R	p.P870R	NM_006045.1	NP_006036.1	WXS	Illumina GAIIx	Phase_I	O75110	ATP9A_HUMAN			24	2873	-			870					E1P5Y3|E1P5Y4|Q5TFW5|Q5TFW6|Q5TFW9|Q6ZMF3|Q9NQK6|Q9NQK7	Missense_Mutation	SNP	ENST00000338821.5	37	c.2609C>G	CCDS33489.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.300594	0.81136	.	.	ENSG00000054793	ENST00000311637;ENST00000338821;ENST00000402822	T;T;T	0.70399	-0.48;-0.48;-0.48	4.88	4.88	0.63580	.	0.052502	0.85682	D	0.000000	T	0.72120	0.3421	L	0.53561	1.675	0.80722	D	1	P;P	0.36465	0.527;0.554	B;B	0.41088	0.25;0.347	T	0.75536	-0.3283	10	0.62326	D	0.03	-18.791	18.3951	0.90495	0.0:0.0:1.0:0.0	.	749;870	O75110-2;O75110	.;ATP9A_HUMAN	R	734;870;749	ENSP00000309086:P734R;ENSP00000342481:P870R;ENSP00000385875:P749R	ENSP00000309086:P734R	P	-	2	0	ATP9A	49660074	1.000000	0.71417	0.682000	0.30024	0.997000	0.91878	9.307000	0.96226	2.414000	0.81942	0.655000	0.94253	CCT		0.423	ATP9A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106494.1	NM_006045		9	88	0	0	0	0.004482	0	9	88				
ANKRD28	23243	broad.mit.edu	37	3	15726732	15726732	+	Splice_Site	SNP	C	C	A			TCGA-AS-3777-01A-01D-0966-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b771fd10-af27-4da6-aa24-7ecc2d1474e0	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr3:15726732C>A	ENST00000399451.2	-	21	2667		c.e21+1		ANKRD28_ENST00000383777.1_Splice_Site|ANKRD28_ENST00000497037.1_Splice_Site	NM_001195098.1|NM_001195099.1|NM_015199.3	NP_001182027.1|NP_001182028.1|NP_056014.2	O15084	ANR28_HUMAN	ankyrin repeat domain 28							nucleus (GO:0005634)				breast(2)|endometrium(1)|large_intestine(2)|prostate(1)	6						GTATACTTAACCATTGTAGCA	0.373																																						ENST00000399451.2																			0				breast(2)|endometrium(1)|large_intestine(2)|prostate(1)	6						c.e21+1		ankyrin repeat domain 28							149.0	137.0	141.0					3																	15726732		1960	4156	6116	SO:0001630	splice_region_variant	23243					nucleoplasm	protein binding	g.chr3:15726732C>A	AY367056	CCDS46769.1, CCDS74908.1	3p25.1	2013-01-10			ENSG00000206560	ENSG00000206560		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"", ""Ankyrin repeat domain containing"""	29024	protein-coding gene	gene with protein product	"""phosphatase interactor targeting K protein"", ""protein phosphatase 6 ankyrin repeat subunit A"", ""protein phosphatase 1, regulatory subunit 65"""	611122				9205841	Standard	NM_015199		Approved	KIAA0379, PITK, PP6-ARS-A, PPP1R65	uc003caj.1	O15084	OTTHUMG00000155379	ENST00000399451.2:c.2299+1G>T	3.37:g.15726732C>A			Somatic				ANKRD28_ENST00000497037.1_Splice_Site|ANKRD28_ENST00000383777.1_Splice_Site		NM_001195098.1|NM_001195099.1|NM_015199.3	NP_001182027.1|NP_001182028.1|NP_056014.2	WXS	Illumina GAIIx	Phase_I	O15084	ANR28_HUMAN			21	2667	-								B4DES5|Q1WWL4|Q29RW6|Q3B857|Q6ULS0|Q6ZT57	Splice_Site	SNP	ENST00000399451.2	37		CCDS46769.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.731918	0.89390	.	.	ENSG00000206560	ENST00000399451;ENST00000383777;ENST00000412318	.	.	.	5.77	5.77	0.91146	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.0007	0.97408	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ANKRD28	15701736	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.818000	0.86416	2.726000	0.93360	0.650000	0.86243	.		0.373	ANKRD28-003	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339758.1	NM_015199	Intron	40	273	1	0	2.40579e-17	0.006230	3.10993e-17	40	273				
FREM2	341640	broad.mit.edu	37	13	39265811	39265811	+	Silent	SNP	C	C	T			TCGA-AS-3777-01A-01D-0966-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b771fd10-af27-4da6-aa24-7ecc2d1474e0	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr13:39265811C>T	ENST00000280481.7	+	1	4546	c.4330C>T	c.(4330-4332)Cta>Tta	p.L1444L		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	1444					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		AACAGACCTACTAAGCACTAG	0.473																																						ENST00000280481.7																			0				NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148						c.(4330-4332)Cta>Tta		FRAS1 related extracellular matrix protein 2							146.0	118.0	128.0					13																	39265811		2203	4300	6503	SO:0001819	synonymous_variant	341640				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr13:39265811C>T	BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.4330C>T	13.37:g.39265811C>T			Somatic					p.L1444L	NM_207361.4	NP_997244.3	WXS	Illumina GAIIx	Phase_I	Q5SZK8	FREM2_HUMAN		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)	1	4546	+		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)	1444					Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Silent	SNP	ENST00000280481.7	37	c.4330C>T	CCDS31960.1																																																																																				0.473	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361		20	177	0	0	0	0.002299	0	20	177				
QPCT	25797	broad.mit.edu	37	2	37586796	37586796	+	Missense_Mutation	SNP	C	C	T			TCGA-AS-3777-01A-01D-0966-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b771fd10-af27-4da6-aa24-7ecc2d1474e0	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr2:37586796C>T	ENST00000338415.3	+	3	499	c.341C>T	c.(340-342)cCc>cTc	p.P114L	QPCT_ENST00000537448.1_Missense_Mutation_p.P65L	NM_012413.3	NP_036545.1	Q16769	QPCT_HUMAN	glutaminyl-peptide cyclotransferase	114					cellular protein modification process (GO:0006464)|peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase (GO:0017186)	extracellular vesicular exosome (GO:0070062)	glutaminyl-peptide cyclotransferase activity (GO:0016603)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|stomach(2)	17		Ovarian(717;0.051)|all_hematologic(82;0.21)				AGTCAGACACCCTATGGGTAC	0.443																																						ENST00000338415.3																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|stomach(2)	17						c.(340-342)cCc>cTc		glutaminyl-peptide cyclotransferase							95.0	79.0	84.0					2																	37586796		2203	4300	6503	SO:0001583	missense	25797				peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase|proteolysis	extracellular region	acyltransferase activity|glutaminyl-peptide cyclotransferase activity|peptidase activity|zinc ion binding	g.chr2:37586796C>T	X71125	CCDS1790.1	2p22	2008-07-31	2008-07-31		ENSG00000115828	ENSG00000115828	2.3.2.5		9753	protein-coding gene	gene with protein product	"""glutaminyl cyclase"""	607065				7999256	Standard	NM_012413		Approved	QC, GCT	uc002rqg.3	Q16769	OTTHUMG00000100963	ENST00000338415.3:c.341C>T	2.37:g.37586796C>T	ENSP00000344829:p.Pro114Leu		Somatic				QPCT_ENST00000537448.1_Missense_Mutation_p.P65L	p.P114L	NM_012413.3	NP_036545.1	WXS	Illumina GAIIx	Phase_I	Q16769	QPCT_HUMAN			3	499	+		Ovarian(717;0.051)|all_hematologic(82;0.21)	114					Q16770|Q3KRG6|Q53TR4	Missense_Mutation	SNP	ENST00000338415.3	37	c.341C>T	CCDS1790.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.640023	0.87760	.	.	ENSG00000115828	ENST00000338415;ENST00000404976;ENST00000537448	T;T;T	0.32753	1.44;1.44;1.44	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.66528	0.2798	M	0.91196	3.185	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.74509	-0.3642	10	0.87932	D	0	-3.9293	19.4608	0.94916	0.0:1.0:0.0:0.0	.	65;114	Q16769-2;Q16769	.;QPCT_HUMAN	L	114;65;65	ENSP00000344829:P114L;ENSP00000385391:P65L;ENSP00000441606:P65L	ENSP00000344829:P114L	P	+	2	0	QPCT	37440300	1.000000	0.71417	0.972000	0.41901	0.710000	0.40934	7.668000	0.83897	2.587000	0.87381	0.655000	0.94253	CCC		0.443	QPCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218572.2			48	29	0	0	0	0.003610	0	48	29				
MNDA	4332	broad.mit.edu	37	1	158815659	158815659	+	Missense_Mutation	SNP	T	T	C	rs374060185		TCGA-AS-3777-01A-01D-0966-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b771fd10-af27-4da6-aa24-7ecc2d1474e0	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr1:158815659T>C	ENST00000368141.4	+	5	1114	c.853T>C	c.(853-855)Tct>Cct	p.S285P		NM_002432.1	NP_002423.1	P41218	MNDA_HUMAN	myeloid cell nuclear differentiation antigen	285	HIN-200. {ECO:0000255|PROSITE- ProRule:PRU00106}.				B cell receptor signaling pathway (GO:0050853)|cellular defense response (GO:0006968)|cellular response to DNA damage stimulus (GO:0006974)|negative regulation of B cell proliferation (GO:0030889)|positive regulation of apoptotic process (GO:0043065)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	all_hematologic(112;0.0378)					GGAAGCATCATCTGTGTCTGA	0.348																																						ENST00000368141.4																			0				NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65						c.(853-855)Tct>Cct		myeloid cell nuclear differentiation antigen		T	PRO/SER	0,4406		0,0,2203	73.0	76.0	75.0		853	-1.5	0.0	1		75	1,8599	1.2+/-3.3	0,1,4299	no	missense	MNDA	NM_002432.1	74	0,1,6502	CC,CT,TT		0.0116,0.0,0.0077	probably-damaging	285/408	158815659	1,13005	2203	4300	6503	SO:0001583	missense	4332				B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	g.chr1:158815659T>C	BC032319	CCDS1177.1	1q22	2008-02-05			ENSG00000163563	ENSG00000163563			7183	protein-coding gene	gene with protein product		159553				1644857, 7512843	Standard	NM_002432		Approved	PYHIN3	uc001fsz.1	P41218	OTTHUMG00000022776	ENST00000368141.4:c.853T>C	1.37:g.158815659T>C	ENSP00000357123:p.Ser285Pro		Somatic					p.S285P	NM_002432.1	NP_002423.1	WXS	Illumina GAIIx	Phase_I	P41218	MNDA_HUMAN			5	1114	+	all_hematologic(112;0.0378)		285			HIN-200.			Missense_Mutation	SNP	ENST00000368141.4	37	c.853T>C	CCDS1177.1	.	.	.	.	.	.	.	.	.	.	T	16.06	3.016095	0.54468	0.0	1.16E-4	ENSG00000163563	ENST00000368141	T	0.15952	2.38	4.28	-1.55	0.08558	HIN-200/IF120x (2);Nucleic acid-binding, OB-fold (1);	1.640470	0.03858	N	0.273478	T	0.18759	0.0450	M	0.73217	2.22	0.09310	N	1	D	0.76494	0.999	D	0.75020	0.985	T	0.06427	-1.0827	10	0.59425	D	0.04	-0.9067	1.6694	0.02808	0.1633:0.0984:0.3364:0.4018	.	285	P41218	MNDA_HUMAN	P	285	ENSP00000357123:S285P	ENSP00000357123:S285P	S	+	1	0	MNDA	157082283	0.000000	0.05858	0.000000	0.03702	0.353000	0.29299	-0.834000	0.04391	-0.056000	0.13221	0.533000	0.62120	TCT		0.348	MNDA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059069.1	NM_002432		5	129	0	0	0	0.001168	0	5	129				
SLC12A2	6558	broad.mit.edu	37	5	127486938	127486938	+	Missense_Mutation	SNP	C	C	T			TCGA-AS-3777-01A-01D-0966-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b771fd10-af27-4da6-aa24-7ecc2d1474e0	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr5:127486938C>T	ENST00000262461.2	+	14	2302	c.2113C>T	c.(2113-2115)Cgt>Tgt	p.R705C	SLC12A2_ENST00000343225.4_Missense_Mutation_p.R705C	NM_001046.2	NP_001037.1	P55011	S12A2_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 2	705					ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|branching involved in mammary gland duct morphogenesis (GO:0060444)|chloride transmembrane transport (GO:1902476)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|gamma-aminobutyric acid signaling pathway (GO:0007214)|hyperosmotic response (GO:0006972)|ion transport (GO:0006811)|mammary duct terminal end bud growth (GO:0060763)|multicellular organism growth (GO:0035264)|positive regulation of cell volume (GO:0045795)|potassium ion transport (GO:0006813)|sodium ion transport (GO:0006814)|transepithelial ammonium transport (GO:0070634)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ammonium transmembrane transporter activity (GO:0008519)|sodium:potassium:chloride symporter activity (GO:0008511)			breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		all_cancers(142;0.0972)|Prostate(80;0.151)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	Bumetanide(DB00887)|Potassium Chloride(DB00761)|Quinethazone(DB01325)	GTTAGGATGGCGTCCTGCATT	0.348																																						ENST00000262461.2																			0				breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						c.(2113-2115)Cgt>Tgt		solute carrier family 12 (sodium/potassium/chloride transporter), member 2	Bumetanide(DB00887)|Potassium Chloride(DB00761)						209.0	201.0	204.0					5																	127486938		2203	4300	6503	SO:0001583	missense	6558				potassium ion transport|sodium ion transport|transepithelial ammonium transport|transepithelial chloride transport	integral to plasma membrane|membrane fraction	ammonia transmembrane transporter activity|sodium:potassium:chloride symporter activity	g.chr5:127486938C>T		CCDS4144.1, CCDS58965.1	5q23.3	2014-06-13	2013-07-18		ENSG00000064651	ENSG00000064651		"""Solute carriers"""	10911	protein-coding gene	gene with protein product	"""bumetanide-sensitive sodium-(potassium)-chloride cotransporter 1"", ""basolateral Na-K-Cl symporter"", ""protein phosphatase 1, regulatory subunit 141"""	600840				7629105	Standard	NM_001256461		Approved	NKCC1, BSC, BSC2, PPP1R141	uc003kus.3	P55011	OTTHUMG00000128983	ENST00000262461.2:c.2113C>T	5.37:g.127486938C>T	ENSP00000262461:p.Arg705Cys		Somatic				SLC12A2_ENST00000343225.4_Missense_Mutation_p.R705C	p.R705C	NM_001046.2	NP_001037.1	WXS	Illumina GAIIx	Phase_I	P55011	S12A2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	14	2302	+		all_cancers(142;0.0972)|Prostate(80;0.151)	705					Q8N713|Q8WWH7	Missense_Mutation	SNP	ENST00000262461.2	37	c.2113C>T	CCDS4144.1	.	.	.	.	.	.	.	.	.	.	C	19.53	3.845853	0.71603	.	.	ENSG00000064651	ENST00000262461;ENST00000343225	D;D	0.99532	-6.1;-6.1	4.86	4.86	0.63082	Amino acid permease domain (1);	0.000000	0.85682	D	0.000000	D	0.99819	0.9920	H	0.98295	4.195	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.74674	0.984;0.984	D	0.96735	0.9542	10	0.87932	D	0	.	18.5665	0.91119	0.0:1.0:0.0:0.0	.	705;705	P55011-3;P55011	.;S12A2_HUMAN	C	705	ENSP00000262461:R705C;ENSP00000340878:R705C	ENSP00000262461:R705C	R	+	1	0	SLC12A2	127514837	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.339000	0.43965	2.715000	0.92844	0.655000	0.94253	CGT		0.348	SLC12A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250972.1	NM_001046		33	259	0	0	0	0.004878	0	33	259				
DSCAML1	57453	broad.mit.edu	37	11	117392010	117392010	+	Missense_Mutation	SNP	G	G	A			TCGA-AS-3777-01A-01D-0966-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b771fd10-af27-4da6-aa24-7ecc2d1474e0	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr11:117392010G>A	ENST00000321322.6	-	6	1229	c.1228C>T	c.(1228-1230)Cgc>Tgc	p.R410C	DSCAML1_ENST00000527706.1_Missense_Mutation_p.R140C	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	350	Ig-like C2-type 5.				axonogenesis (GO:0007409)|brain development (GO:0007420)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|dendrite self-avoidance (GO:0070593)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|homophilic cell adhesion (GO:0007156)|negative regulation of cell adhesion (GO:0007162)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		TCCGTGTTGCGATACCAGCGG	0.627																																						ENST00000321322.6																			0				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110						c.(1228-1230)Cgc>Tgc		Down syndrome cell adhesion molecule like 1							90.0	76.0	81.0					11																	117392010		2201	4296	6497	SO:0001583	missense	57453				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity	g.chr11:117392010G>A		CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	14656	protein-coding gene	gene with protein product		611782				11453658	Standard	NM_020693		Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.1228C>T	11.37:g.117392010G>A	ENSP00000315465:p.Arg410Cys		Somatic				DSCAML1_ENST00000527706.1_Missense_Mutation_p.R140C	p.R410C	NM_020693.2	NP_065744.2	WXS	Illumina GAIIx	Phase_I	Q8TD84	DSCL1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)	6	1229	-	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)	350			Ig-like C2-type 5.		Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Missense_Mutation	SNP	ENST00000321322.6	37	c.1228C>T	CCDS8384.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.237731	0.79800	.	.	ENSG00000177103	ENST00000527706;ENST00000321322;ENST00000446508	T;T	0.34667	1.35;1.35	4.67	4.67	0.58626	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.71787	0.3381	H	0.95079	3.62	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.988;0.994	T	0.82180	-0.0585	9	0.87932	D	0	.	17.7518	0.88436	0.0:0.0:1.0:0.0	.	140;350	G3V1B5;Q8TD84	.;DSCL1_HUMAN	C	140;410;117	ENSP00000434335:R140C;ENSP00000315465:R410C	ENSP00000315465:R410C	R	-	1	0	DSCAML1	116897220	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.371000	0.66150	2.417000	0.82017	0.609000	0.83330	CGC		0.627	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392907.2	NM_020693		82	136	0	0	0	0.003610	0	82	136				
MYO16	23026	broad.mit.edu	37	13	109379873	109379873	+	Missense_Mutation	SNP	C	C	T	rs201650171		TCGA-AS-3777-01A-01D-0966-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b771fd10-af27-4da6-aa24-7ecc2d1474e0	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr13:109379873C>T	ENST00000357550.2	+	3	424	c.383C>T	c.(382-384)aCg>aTg	p.T128M	MYO16_ENST00000356711.2_Missense_Mutation_p.T128M|MYO16_ENST00000251041.5_Missense_Mutation_p.T128M	NM_001198950.1	NP_001185879.1			myosin XVI									p.T128M(1)		NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			GACTTCTGGACGCCCATGCAC	0.418													.|||	1	0.000199681	0.0	0.0	5008	,	,		19002	0.001		0.0	False		,,,				2504	0.0					ENST00000356711.2																			1	Substitution - Missense(1)	p.T128M(1)	endometrium(1)	NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121						c.(382-384)aCg>aTg		myosin XVI							210.0	185.0	193.0					13																	109379873		2203	4300	6503	SO:0001583	missense	23026				cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity	g.chr13:109379873C>T		CCDS32008.1, CCDS73598.1	13q33.3	2014-06-12			ENSG00000041515	ENSG00000041515		"""Myosins / Myosin superfamily : Class XVI"", ""Ankyrin repeat domain containing"""	29822	protein-coding gene	gene with protein product	"""neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 3"", ""protein phosphatase 1, regulatory subunit 107"""	615479				11588169, 17029291, 21946561	Standard	NM_001198950		Approved	MYR8, KIAA0865, Myo16b, NYAP3, PPP1R107	uc001vqt.1	Q9Y6X6	OTTHUMG00000017333	ENST00000357550.2:c.383C>T	13.37:g.109379873C>T	ENSP00000350160:p.Thr128Met		Somatic				MYO16_ENST00000251041.5_Missense_Mutation_p.T128M|MYO16_ENST00000357550.2_Missense_Mutation_p.T128M	p.T128M	NM_015011.1	NP_055826.1	WXS	Illumina GAIIx	Phase_I	Q9Y6X6	MYO16_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)		4	509	+	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		128						Missense_Mutation	SNP	ENST00000357550.2	37	c.383C>T	CCDS32008.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	19.24	3.788984	0.70337	.	.	ENSG00000041515	ENST00000356711;ENST00000397258;ENST00000357550;ENST00000251041	T;T;T	0.75154	-0.91;-0.91;-0.91	4.68	4.68	0.58851	Ankyrin repeat-containing domain (4);	0.200080	0.23353	U	0.049115	D	0.90752	0.7097	H	0.96691	3.865	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.74674	0.939;0.984	D	0.93997	0.7272	9	.	.	.	.	16.9776	0.86317	0.0:1.0:0.0:0.0	.	128;128	Q9Y6X6-2;Q9Y6X6	.;MYO16_HUMAN	M	128	ENSP00000349145:T128M;ENSP00000350160:T128M;ENSP00000251041:T128M	.	T	+	2	0	MYO16	108177874	1.000000	0.71417	0.966000	0.40874	0.704000	0.40688	6.738000	0.74822	2.310000	0.77875	0.462000	0.41574	ACG		0.418	MYO16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045746.1	NM_015011		25	125	0	0	0	0.002780	0	25	125				
ARHGAP25	9938	broad.mit.edu	37	2	69046326	69046326	+	Missense_Mutation	SNP	G	G	A			TCGA-AS-3777-01A-01D-0966-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b771fd10-af27-4da6-aa24-7ecc2d1474e0	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr2:69046326G>A	ENST00000295381.3	+	9	1491	c.1072G>A	c.(1072-1074)Gat>Aat	p.D358N	ARHGAP25_ENST00000409030.3_Missense_Mutation_p.D351N|ARHGAP25_ENST00000409202.3_Missense_Mutation_p.D359N|ARHGAP25_ENST00000479844.1_Missense_Mutation_p.D52N|ARHGAP25_ENST00000467265.1_Missense_Mutation_p.D319N|ARHGAP25_ENST00000409220.1_Missense_Mutation_p.D352N|ARHGAP25_ENST00000497079.1_Missense_Mutation_p.D352N	NM_001007231.2	NP_001007232.2	P42331	RHG25_HUMAN	Rho GTPase activating protein 25	358					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						CAAGTCCAAGGATATACCCCT	0.498																																						ENST00000295381.3																			0				breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						c.(1072-1074)Gat>Aat		Rho GTPase activating protein 25							145.0	155.0	151.0					2																	69046326		2203	4300	6503	SO:0001583	missense	9938				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr2:69046326G>A	D29642	CCDS33214.1, CCDS46312.1, CCDS33214.2, CCDS54363.1, CCDS54364.1	2p13.3	2013-01-10			ENSG00000163219	ENSG00000163219		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	28951	protein-coding gene	gene with protein product		610587				7584044	Standard	NM_001007231		Approved	KIAA0053	uc010fdg.3	P42331	OTTHUMG00000152621	ENST00000295381.3:c.1072G>A	2.37:g.69046326G>A	ENSP00000295381:p.Asp358Asn		Somatic				ARHGAP25_ENST00000467265.1_Missense_Mutation_p.D319N|ARHGAP25_ENST00000409220.1_Missense_Mutation_p.D352N|ARHGAP25_ENST00000479844.1_Missense_Mutation_p.D52N|ARHGAP25_ENST00000497079.1_Missense_Mutation_p.D352N|ARHGAP25_ENST00000409202.3_Missense_Mutation_p.D359N|ARHGAP25_ENST00000409030.3_Missense_Mutation_p.D351N	p.D358N	NM_001007231.2	NP_001007232.2	WXS	Illumina GAIIx	Phase_I	P42331	RHG25_HUMAN			9	1491	+			358					A8K2Y1|B7Z498|E9PFQ7|G5E9G2|Q8IXQ2	Missense_Mutation	SNP	ENST00000295381.3	37	c.1072G>A		.	.	.	.	.	.	.	.	.	.	G	25.5	4.640632	0.87859	.	.	ENSG00000163219	ENST00000295381;ENST00000409202;ENST00000467265;ENST00000409030;ENST00000409220;ENST00000482106;ENST00000497079;ENST00000543533;ENST00000479844	T;T;T;T;T;T;T	0.25912	2.6;2.6;2.3;2.6;2.6;2.54;1.77	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	T	0.37839	0.1018	N	0.19112	0.55	0.80722	D	1	D;D;D;D;D;P	0.89917	1.0;1.0;1.0;1.0;1.0;0.94	D;D;D;D;D;P	0.87578	0.972;0.995;0.995;0.995;0.998;0.76	T	0.19063	-1.0317	10	0.51188	T	0.08	.	18.0845	0.89453	0.0:0.0:1.0:0.0	.	319;359;352;351;352;358	E9PFQ7;P42331-4;G5E9G2;P42331-3;P42331-2;P42331	.;.;.;.;.;RHG25_HUMAN	N	358;359;319;351;352;352;352;343;52	ENSP00000295381:D358N;ENSP00000386911:D359N;ENSP00000420583:D319N;ENSP00000386863:D351N;ENSP00000386241:D352N;ENSP00000417139:D352N;ENSP00000417467:D52N	ENSP00000295381:D358N	D	+	1	0	ARHGAP25	68899830	1.000000	0.71417	1.000000	0.80357	0.689000	0.40095	6.673000	0.74482	2.817000	0.96982	0.563000	0.77884	GAT		0.498	ARHGAP25-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_014882		8	285	0	0	0	0.004482	0	8	285				
MT-CO3	4514	broad.mit.edu	37	M	9384	9384	+	Missense_Mutation	SNP	G	G	A			TCGA-AS-3777-01A-01D-0966-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b771fd10-af27-4da6-aa24-7ecc2d1474e0	05cc3865-125d-4c09-b63a-b177ff676e78	g.chrM:9384G>A	ENST00000362079.2	+	1	178	c.178G>A	c.(178-180)Gat>Aat	p.D60N	MT-TS1_ENST00000387416.2_RNA|MT-ND4_ENST00000361381.2_5'Flank|MT-TR_ENST00000387439.1_RNA|MT-TS2_ENST00000387449.1_RNA|MT-TL2_ENST00000387456.1_RNA|MT-TD_ENST00000387419.1_RNA|MT-TK_ENST00000387421.1_RNA|MT-TH_ENST00000387441.1_RNA|MT-ND5_ENST00000361567.2_5'Flank|MT-ND3_ENST00000361227.2_5'Flank|MT-TG_ENST00000387429.1_RNA|MT-ND4L_ENST00000361335.1_5'Flank			P00414	COX3_HUMAN	mitochondrially encoded cytochrome c oxidase III	60					aerobic electron transport chain (GO:0019646)|cellular metabolic process (GO:0044237)|respiratory chain complex IV assembly (GO:0008535)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|respiratory chain complex IV (GO:0045277)	cytochrome-c oxidase activity (GO:0004129)			breast(1)|endometrium(10)|kidney(14)|lung(1)|urinary_tract(1)	27						AATGGTGGCGCGATGTAACAC	0.458																																						ENST00000362079.2																			0				breast(1)|endometrium(10)|kidney(14)|lung(1)|urinary_tract(1)	27						c.(178-180)Gat>Aat		mitochondrially encoded cytochrome c oxidase III																																				SO:0001583	missense	4514							g.chrM:9384G>A			mitochondria	2012-11-16	2005-02-15	2005-02-16	ENSG00000198938	ENSG00000198938		"""Mitochondrial respiratory chain complex / Complex IV"""	7422	protein-coding gene	gene with protein product		516050	"""cytochrome c oxidase III"""	MTCO3			Standard			Approved	COX3, COIII, CO3		P00414		ENST00000362079.2:c.178G>A	M.37:g.9384G>A	ENSP00000354982:p.Asp60Asn		Somatic					p.60_60insN			WXS	Illumina GAIIx	Phase_I					1	178	+								Q14Y83	Missense_Mutation	SNP	ENST00000362079.2	37	c.178G>A																																																																																					0.458	MT-CO3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024032		5	148	0	0	0	0.001168	0	5	148				
MYH2	4620	broad.mit.edu	37	17	10435042	10435042	+	Missense_Mutation	SNP	G	G	A			TCGA-AS-3777-01A-01D-0966-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b771fd10-af27-4da6-aa24-7ecc2d1474e0	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr17:10435042G>A	ENST00000245503.5	-	22	2989	c.2605C>T	c.(2605-2607)Ctt>Ttt	p.L869F	RP11-799N11.1_ENST00000399342.2_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.L869F|MYH2_ENST00000532183.2_Intron|RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	869					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						GACTTGGCAAGTTCGTCTTTA	0.423																																						ENST00000245503.5																			0				NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						c.(2605-2607)Ctt>Ttt		myosin, heavy chain 2, skeletal muscle, adult							142.0	138.0	139.0					17																	10435042		2203	4300	6503	SO:0001583	missense	4620				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10435042G>A		CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"""Myosins / Myosin superfamily : Class II"""	7572	protein-coding gene	gene with protein product		160740	"""myosin, heavy polypeptide 2, skeletal muscle, adult"", ""inclusion body myopathy 3, autosomal dominant"""	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.2605C>T	17.37:g.10435042G>A	ENSP00000245503:p.Leu869Phe		Somatic				CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.L869F|MYH2_ENST00000532183.1_Intron	p.L869F	NM_017534.5	NP_060004.3	WXS	Illumina GAIIx	Phase_I	Q9UKX2	MYH2_HUMAN			22	2989	-			869					A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Missense_Mutation	SNP	ENST00000245503.5	37	c.2605C>T	CCDS11156.1	.	.	.	.	.	.	.	.	.	.	G	18.67	3.672800	0.67928	.	.	ENSG00000125414	ENST00000245503;ENST00000397183	D;D	0.85258	-1.96;-1.96	4.71	4.71	0.59529	.	0.000000	0.35378	U	0.003247	D	0.92309	0.7560	M	0.83118	2.625	0.39956	D	0.974606	D	0.57899	0.981	D	0.65773	0.938	D	0.93060	0.6473	10	0.48119	T	0.1	.	17.8355	0.88694	0.0:0.0:1.0:0.0	.	869	Q9UKX2	MYH2_HUMAN	F	869	ENSP00000245503:L869F;ENSP00000380367:L869F	ENSP00000245503:L869F	L	-	1	0	MYH2	10375767	0.992000	0.36948	0.125000	0.21846	0.957000	0.61999	3.097000	0.50251	2.447000	0.82792	0.561000	0.74099	CTT		0.423	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534		9	184	0	0	0	0.006214	0	9	184				
ALG13	79868	broad.mit.edu	37	X	111002972	111002972	+	Silent	SNP	G	G	A			TCGA-AS-3777-01A-01D-0966-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b771fd10-af27-4da6-aa24-7ecc2d1474e0	05cc3865-125d-4c09-b63a-b177ff676e78	g.chrX:111002972G>A	ENST00000394780.3	+	27	3171	c.3159G>A	c.(3157-3159)ccG>ccA	p.P1053P	ALG13_ENST00000251943.4_Silent_p.P870P|ALG13_ENST00000470971.1_3'UTR	NM_001099922.2|NM_001257231.1	NP_001093392.1|NP_001244160.1	Q9NP73	ALG13_HUMAN	ALG13, UDP-N-acetylglucosaminyltransferase subunit	1053					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|lipid glycosylation (GO:0030259)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)	carbohydrate binding (GO:0030246)|cysteine-type peptidase activity (GO:0008234)|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity (GO:0004577)|poly(A) RNA binding (GO:0044822)			endometrium(2)|lung(10)|skin(1)	13						ATACTTTTCCGAATGCTGATT	0.408																																						ENST00000394780.3																			0				endometrium(2)|lung(10)|skin(1)	13						c.(3157-3159)ccG>ccA		ALG13, UDP-N-acetylglucosaminyltransferase subunit							71.0	51.0	57.0					X																	111002972		1568	3581	5149	SO:0001819	synonymous_variant	79868				dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane	carbohydrate binding|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity	g.chrX:111002972G>A	AF220051	CCDS14559.1, CCDS55477.1, CCDS59173.1, CCDS76011.1, CCDS76012.1, CCDS76013.1	Xq23	2014-02-24	2013-02-21	2006-11-07	ENSG00000101901	ENSG00000101901	2.4.1.141	"""Tudor domain containing"", ""OTU domain containing"""	30881	protein-coding gene	gene with protein product	"""tudor domain containing 13"", ""N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase"""	300776	"""glycosyltransferase 28 domain containing 1"", ""chromosome X open reading frame 45"", ""asparagine-linked glycosylation 13 homolog (S. cerevisiae)"""	GLT28D1, CXorf45		12477932	Standard	NM_018466		Approved	MDS031, YGL047W, FLJ23018, TDRD13	uc011msy.2	Q9NP73	OTTHUMG00000022209	ENST00000394780.3:c.3159G>A	X.37:g.111002972G>A			Somatic				ALG13_ENST00000470971.1_3'UTR|ALG13_ENST00000251943.4_Silent_p.P870P	p.P1053P	NM_001099922.2|NM_001257231.1	NP_001093392.1|NP_001244160.1	WXS	Illumina GAIIx	Phase_I	Q9NP73	ALG13_HUMAN			27	3171	+			1053					B1AKD6|B1AKM1|B2R5L5|B7Z6J0|B7Z804|B7Z847|B7Z9A8|B7ZAJ1|B7ZB57|Q17RC3|Q5JXY9|Q9H5U8	Silent	SNP	ENST00000394780.3	37	c.3159G>A	CCDS55477.1																																																																																				0.408	ALG13-011	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272895.1	NM_018466		4	28	0	0	0	0.000248	0	4	28				
MT-CO1	4512	broad.mit.edu	37	M	3244	3244	+	5'Flank	SNP	G	G	A			TCGA-AS-3777-01A-01D-0966-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b771fd10-af27-4da6-aa24-7ecc2d1474e0	05cc3865-125d-4c09-b63a-b177ff676e78	g.chrM:3244G>A	ENST00000361624.2	+	0	0				MT-TV_ENST00000387342.1_RNA|MT-TN_ENST00000387400.1_RNA|MT-TY_ENST00000387409.1_RNA|MT-TQ_ENST00000387372.1_RNA|MT-TL1_ENST00000386347.1_RNA|MT-TM_ENST00000387377.1_RNA|MT-ND2_ENST00000361453.3_5'Flank|MT-RNR1_ENST00000389680.2_RNA|MT-TI_ENST00000387365.1_RNA|MT-ND1_ENST00000361390.2_5'Flank|MT-TA_ENST00000387392.1_RNA|MT-RNR2_ENST00000387347.2_RNA|MT-TW_ENST00000387382.1_RNA|MT-TC_ENST00000387405.1_RNA|MT-TF_ENST00000387314.1_RNA			P00395	COX1_HUMAN	mitochondrially encoded cytochrome c oxidase I						aerobic respiration (GO:0009060)|cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|oxidative phosphorylation (GO:0006119)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex IV (GO:0005751)|respiratory chain complex IV (GO:0045277)	cytochrome-c oxidase activity (GO:0004129)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(4)|endometrium(25)|kidney(19)|lung(3)|prostate(3)	54						aagatggcagagcccggtaat	0.438																																						ENST00000386347.1																			0																																																	SO:0001631	upstream_gene_variant	0							g.chrM:3244G>A			mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198804	ENSG00000198804		"""Mitochondrial respiratory chain complex / Complex IV"""	7419	protein-coding gene	gene with protein product		516030	"""cytochrome c oxidase I"""	MTCO1		7219534	Standard			Approved	COX1, COI		P00395			M.37:g.3244G>A	Exception_encountered		Somatic								WXS	Illumina GAIIx	Phase_I					0	15	+								Q34770	RNA	SNP	ENST00000361624.2	37																																																																																						0.438	MT-CO1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024028		85	41	0	0	0	0.003610	0	85	41				
AHNAK	79026	broad.mit.edu	37	11	62291443	62291443	+	Missense_Mutation	SNP	G	G	C			TCGA-AS-3777-01A-01D-0966-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b771fd10-af27-4da6-aa24-7ecc2d1474e0	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr11:62291443G>C	ENST00000378024.4	-	5	10720	c.10446C>G	c.(10444-10446)ttC>ttG	p.F3482L	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	3482					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CAGACACACTGAATTTGGGCA	0.453																																						ENST00000378024.4																			0				NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(10444-10446)ttC>ttG		AHNAK nucleoprotein							116.0	112.0	113.0					11																	62291443		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62291443G>C	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.10446C>G	11.37:g.62291443G>C	ENSP00000367263:p.Phe3482Leu		Somatic				AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	p.F3482L	NM_001620.1	NP_001611.1	WXS	Illumina GAIIx	Phase_I	Q09666	AHNK_HUMAN			5	10720	-		Melanoma(852;0.155)	3482					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.10446C>G	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	g	6.102	0.387035	0.11581	.	.	ENSG00000124942	ENST00000378024	T	0.01572	4.76	4.51	-5.87	0.02297	.	.	.	.	.	T	0.05273	0.0140	L	0.52573	1.65	0.25647	N	0.986134	D	0.63880	0.993	D	0.73708	0.981	T	0.00527	-1.1688	9	0.20519	T	0.43	.	14.5003	0.67716	0.7933:0.0:0.2067:0.0	.	3482	Q09666	AHNK_HUMAN	L	3482	ENSP00000367263:F3482L	ENSP00000367263:F3482L	F	-	3	2	AHNAK	62048019	0.000000	0.05858	0.004000	0.12327	0.008000	0.06430	-1.148000	0.03185	-1.335000	0.02241	-0.410000	0.06199	TTC		0.453	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		45	173	0	0	0	0.002522	0	45	173				
BCRP7	100133163	broad.mit.edu	37	22	18844763	18844763	+	3'UTR	SNP	T	T	C	rs1064849		TCGA-AS-3777-01A-01D-0966-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b771fd10-af27-4da6-aa24-7ecc2d1474e0	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr22:18844763T>C	ENST00000412938.1	+	0	3013																											TCACAGCCTCTGAGGGCAGCA	0.562																																						ENST00000412938.1																			0																																																	SO:0001624	3_prime_UTR_variant	100133163							g.chr22:18844763T>C																												ENST00000412938.1:c.*3010T>C	22.37:g.18844763T>C			Somatic								WXS	Illumina GAIIx	Phase_I					0	3013	+									RNA	SNP	ENST00000412938.1	37																																																																																						0.562	AC008132.13-002	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000471615.1			3	27	0	0	0	0.004672	0	3	27				
C6orf10	10665	broad.mit.edu	37	6	32260989	32260989	+	Silent	SNP	T	T	C			TCGA-AS-3777-01A-01D-0966-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b771fd10-af27-4da6-aa24-7ecc2d1474e0	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr6:32260989T>C	ENST00000447241.2	-	23	1633	c.1461A>G	c.(1459-1461)caA>caG	p.Q487Q	C6orf10_ENST00000442822.2_Intron|C6orf10_ENST00000527965.1_Silent_p.Q471Q|C6orf10_ENST00000533191.1_Silent_p.Q485Q|C6orf10_ENST00000375015.4_Silent_p.Q486Q|C6orf10_ENST00000375007.4_Silent_p.Q485Q	NM_006781.3	NP_006772.3	Q5SRN2	CF010_HUMAN	chromosome 6 open reading frame 10	487	Lys-rich.					integral component of membrane (GO:0016021)|nucleus (GO:0005634)				cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	25						CCTTCTTTTCTTGGGCTTCCT	0.378																																						ENST00000375015.4																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	25						c.(1456-1458)caA>caG		chromosome 6 open reading frame 10							206.0	230.0	222.0					6																	32260989		1511	2709	4220	SO:0001819	synonymous_variant	10665					integral to membrane		g.chr6:32260989T>C	U60665	CCDS34422.1, CCDS69082.1, CCDS75430.1	6p21.32	2012-11-20			ENSG00000204296	ENSG00000204296			13922	protein-coding gene	gene with protein product	"""testis specific basic protein"""					10803852	Standard	XM_005248810		Approved	TSBP	uc021yvs.1	Q5SRN2	OTTHUMG00000031107	ENST00000447241.2:c.1461A>G	6.37:g.32260989T>C			Somatic				C6orf10_ENST00000447241.2_Silent_p.Q487Q|C6orf10_ENST00000375007.4_Silent_p.Q485Q|C6orf10_ENST00000533191.1_Silent_p.Q485Q|C6orf10_ENST00000527965.1_Silent_p.Q471Q|C6orf10_ENST00000442822.2_Intron	p.Q486Q			WXS	Illumina GAIIx	Phase_I	Q5SRN2	CF010_HUMAN			26	1658	-			487			Lys-rich.		A2BET1|A2BET2|A6NME2|B0S7R2|B0S7R3|E9PMB1|Q5SPI9|Q5SPJ0|Q5SPK9|Q5SPL0|Q5SRN3|Q5TG25|Q5TG26|Q8N4B6	Silent	SNP	ENST00000447241.2	37	c.1458A>G	CCDS34422.1																																																																																				0.378	C6orf10-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076178.4	NM_006781		114	262	0	0	0	0.003610	0	114	262				
SALL3	27164	broad.mit.edu	37	18	76753036	76753036	+	Missense_Mutation	SNP	G	G	A			TCGA-AS-3777-01A-01D-0966-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b771fd10-af27-4da6-aa24-7ecc2d1474e0	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr18:76753036G>A	ENST00000537592.2	+	2	1045	c.1045G>A	c.(1045-1047)Ggg>Agg	p.G349R	SALL3_ENST00000536229.3_Missense_Mutation_p.G216R|SALL3_ENST00000575389.2_Missense_Mutation_p.G349R	NM_171999.3	NP_741996.2	Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	349					forelimb morphogenesis (GO:0035136)|hindlimb morphogenesis (GO:0035137)|negative regulation of smoothened signaling pathway (GO:0045879)|olfactory bulb interneuron development (GO:0021891)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		CCTGGCCCCGGGGTCCCTGCT	0.771																																						ENST00000536229.3																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74						c.(646-648)Ggg>Agg		spalt-like transcription factor 3							7.0	9.0	8.0					18																	76753036		2118	4149	6267	SO:0001583	missense	27164				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:76753036G>A	AJ007421	CCDS12013.1	18q23	2013-10-17	2013-10-17		ENSG00000256463	ENSG00000256463		"""Zinc fingers, C2H2-type"""	10527	protein-coding gene	gene with protein product		605079	"""sal (Drosophila)-like 3"", ""sal-like 3 (Drosophila)"""			10610715	Standard	NM_171999		Approved	ZNF796	uc002lmt.3	Q9BXA9	OTTHUMG00000132896	ENST00000537592.2:c.1045G>A	18.37:g.76753036G>A	ENSP00000441823:p.Gly349Arg		Somatic				SALL3_ENST00000537592.2_Missense_Mutation_p.G349R|SALL3_ENST00000575389.2_Missense_Mutation_p.G349R	p.G216R			WXS	Illumina GAIIx	Phase_I	Q9BXA9	SALL3_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)	1	1355	+		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)	349			Poly-Gln.		Q9UGH1	Missense_Mutation	SNP	ENST00000537592.2	37	c.646G>A	CCDS12013.1	.	.	.	.	.	.	.	.	.	.	G	10.28	1.307832	0.23821	.	.	ENSG00000256463	ENST00000537592;ENST00000536229	T	0.10099	2.91	4.37	1.54	0.23209	.	0.244999	0.28098	N	0.016620	T	0.06645	0.0170	L	0.31294	0.92	0.20703	N	0.999866	P	0.42409	0.779	B	0.36885	0.235	T	0.28004	-1.0057	10	0.49607	T	0.09	-8.8444	6.6314	0.22859	0.1562:0.0:0.6996:0.1442	.	349	Q9BXA9	SALL3_HUMAN	R	349	ENSP00000441823:G349R	ENSP00000299466:G349R	G	+	1	0	SALL3	74854024	0.997000	0.39634	0.000000	0.03702	0.002000	0.02628	3.516000	0.53436	0.118000	0.18165	-0.384000	0.06662	GGG		0.771	SALL3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256397.1	NM_171999		3	10	0	0	0	0.000248	0	3	10				
TFRC	7037	broad.mit.edu	37	3	195778819	195778819	+	Missense_Mutation	SNP	C	C	A			TCGA-AS-3777-01A-01D-0966-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b771fd10-af27-4da6-aa24-7ecc2d1474e0	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr3:195778819C>A	ENST00000360110.4	-	19	2446	c.2277G>T	c.(2275-2277)gaG>gaT	p.E759D	TFRC_ENST00000420415.1_Missense_Mutation_p.E678D|TFRC_ENST00000540528.1_3'UTR|TFRC_ENST00000535031.1_Missense_Mutation_p.E477D|TFRC_ENST00000392396.3_Missense_Mutation_p.E759D	NM_001128148.1	NP_001121620.1	P02786	TFR1_HUMAN	transferrin receptor	759	Ligand-binding.				cellular iron ion homeostasis (GO:0006879)|iron ion import (GO:0097286)|osteoclast differentiation (GO:0030316)|positive regulation of bone resorption (GO:0045780)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|coated pit (GO:0005905)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)|vesicle (GO:0031982)	double-stranded RNA binding (GO:0003725)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|transferrin receptor activity (GO:0004998)			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_cancers(143;1.94e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.36e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.17e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00233)	Gallium nitrate(DB05260)	ACATTTAAAACTCATTGTCAA	0.438			T	BCL6	NHL																																	ENST00000360110.4				Dom	yes		3	3q29	7037	T	"""transferrin receptor (p90, CD71)"""			L	BCL6		NHL		0				NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(2275-2277)gaG>gaT		transferrin receptor							90.0	83.0	85.0					3																	195778819		2203	4300	6503	SO:0001583	missense	7037				cellular iron ion homeostasis|endocytosis|interspecies interaction between organisms|proteolysis|transferrin transport|transmembrane transport	coated pit|endosome|integral to plasma membrane|melanosome	peptidase activity|transferrin receptor activity	g.chr3:195778819C>A	X01060	CCDS3312.1	3q29	2013-09-19	2013-09-19		ENSG00000072274	ENSG00000072274		"""CD molecules"""	11763	protein-coding gene	gene with protein product		190010	"""transferrin receptor (p90, CD71)"""				Standard	NM_003234		Approved	CD71, TFR1, p90	uc003fwa.4	P02786	OTTHUMG00000155714	ENST00000360110.4:c.2277G>T	3.37:g.195778819C>A	ENSP00000353224:p.Glu759Asp		Somatic				TFRC_ENST00000392396.3_Missense_Mutation_p.E759D|TFRC_ENST00000420415.1_Missense_Mutation_p.E678D|TFRC_ENST00000535031.1_Missense_Mutation_p.E477D|TFRC_ENST00000540528.1_3'UTR	p.E759D	NM_001128148.1	NP_001121620.1	WXS	Illumina GAIIx	Phase_I	P02786	TFR1_HUMAN	Epithelial(36;1.36e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.17e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00233)	19	2446	-	all_cancers(143;1.94e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		759			Ligand-binding.		D3DXB0|Q1HE24|Q59G55|Q9UCN0|Q9UCU5|Q9UDF9|Q9UK21	Missense_Mutation	SNP	ENST00000360110.4	37	c.2277G>T	CCDS3312.1	.	.	.	.	.	.	.	.	.	.	C	12.11	1.838828	0.32513	.	.	ENSG00000072274	ENST00000360110;ENST00000420415;ENST00000392396;ENST00000535031	T;T;T;T	0.58060	0.76;0.81;0.76;0.36	6.06	0.294	0.15747	.	0.348037	0.35320	N	0.003282	T	0.37265	0.0997	L	0.52364	1.645	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.14309	-1.0477	10	0.44086	T	0.13	-10.9423	1.8738	0.03214	0.1306:0.3389:0.1286:0.4019	.	759	P02786	TFR1_HUMAN	D	759;678;759;477	ENSP00000353224:E759D;ENSP00000390133:E678D;ENSP00000376197:E759D;ENSP00000437753:E477D	ENSP00000353224:E759D	E	-	3	2	TFRC	197263216	0.812000	0.29077	0.992000	0.48379	0.983000	0.72400	-0.091000	0.11146	0.095000	0.17434	0.655000	0.94253	GAG		0.438	TFRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341346.1			56	123	1	0	3.89483e-19	0.003610	5.16065e-19	56	123				
KRT85	3891	broad.mit.edu	37	12	52760942	52760942	+	Missense_Mutation	SNP	C	C	T			TCGA-AS-3777-01A-01D-0966-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b771fd10-af27-4da6-aa24-7ecc2d1474e0	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr12:52760942C>T	ENST00000257901.3	-	1	323	c.248G>A	c.(247-249)cGc>cAc	p.R83H	KRT85_ENST00000544265.1_5'Flank	NM_002283.3	NP_002274.1	P78386	KRT85_HUMAN	keratin 85	83	Head.				epidermis development (GO:0008544)	extracellular space (GO:0005615)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(7)|liver(1)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	36	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		GCCCCCGGAGCGGTAGCCGAA	0.692																																						ENST00000257901.3																			0				NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(7)|liver(1)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	36						c.(247-249)cGc>cAc		keratin 85							38.0	46.0	43.0					12																	52760942		2203	4300	6503	SO:0001583	missense	3891				epidermis development	keratin filament	protein binding|structural molecule activity	g.chr12:52760942C>T	X99140	CCDS8824.1, CCDS73472.1	12q13.13	2013-06-20	2006-07-17	2006-07-17	ENSG00000135443	ENSG00000135443		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6462	protein-coding gene	gene with protein product	"""hard keratin type II"""	602767	"""keratin, hair, basic, 5"""	KRTHB5		9084137, 16831889	Standard	NM_002283		Approved	Hb-5	uc001sag.3	P78386	OTTHUMG00000169633	ENST00000257901.3:c.248G>A	12.37:g.52760942C>T	ENSP00000257901:p.Arg83His		Somatic					p.R83H	NM_002283.3	NP_002274.1	WXS	Illumina GAIIx	Phase_I	P78386	KRT85_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	1	323	-	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)		83			Head.		Q9NSB1	Missense_Mutation	SNP	ENST00000257901.3	37	c.248G>A	CCDS8824.1	.	.	.	.	.	.	.	.	.	.	C	15.53	2.862149	0.51482	.	.	ENSG00000135443	ENST00000257901	T	0.75367	-0.93	4.74	4.74	0.60224	.	0.000000	0.56097	D	0.000033	T	0.81250	0.4783	M	0.73217	2.22	0.80722	D	1	D	0.76494	0.999	D	0.65140	0.932	T	0.76686	-0.2868	10	0.15499	T	0.54	.	11.7323	0.51744	0.0:0.919:0.0:0.081	.	83	P78386	KRT85_HUMAN	H	83	ENSP00000257901:R83H	ENSP00000257901:R83H	R	-	2	0	KRT85	51047209	0.501000	0.26099	0.998000	0.56505	0.252000	0.25951	1.493000	0.35605	2.619000	0.88677	0.561000	0.74099	CGC		0.692	KRT85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405184.1	NM_002283		9	60	0	0	0	0.003163	0	9	60				
RNASE2	6036	broad.mit.edu	37	14	21424080	21424080	+	Silent	SNP	C	C	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr14:21424080C>T	ENST00000304625.2	+	2	240	c.150C>T	c.(148-150)tgC>tgT	p.C50C		NM_002934.2	NP_002925.1	P10153	RNAS2_HUMAN	ribonuclease, RNase A family, 2 (liver, eosinophil-derived neurotoxin)	50					chemotaxis (GO:0006935)|RNA catabolic process (GO:0006401)|RNA phosphodiester bond hydrolysis (GO:0090501)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	nucleic acid binding (GO:0003676)|pancreatic ribonuclease activity (GO:0004522)|ribonuclease activity (GO:0004540)			breast(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|stomach(1)	17	all_cancers(95;0.00381)		OV - Ovarian serous cystadenocarcinoma(11;6.3e-09)|Epithelial(56;1.42e-07)|all cancers(55;5.48e-07)	GBM - Glioblastoma multiforme(265;0.0187)		CCCAGCAATGCACCAATGCAA	0.438																																						ENST00000304625.2																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|stomach(1)	17						c.(148-150)tgC>tgT		ribonuclease, RNase A family, 2 (liver, eosinophil-derived neurotoxin)							87.0	77.0	80.0					14																	21424080		2203	4300	6503	SO:0001819	synonymous_variant	6036				chemotaxis|RNA catabolic process	extracellular region|lysosome	nucleic acid binding|pancreatic ribonuclease activity	g.chr14:21424080C>T	X55988	CCDS9561.1	14q11.2	2014-03-13			ENSG00000169385	ENSG00000169385		"""Ribonucleases, RNase A"""	10045	protein-coding gene	gene with protein product		131410		RNS2		1577491, 2734298	Standard	NM_002934		Approved	EDN	uc001vyl.1	P10153	OTTHUMG00000029607	ENST00000304625.2:c.150C>T	14.37:g.21424080C>T			Somatic					p.C50C	NM_002934.2	NP_002925.1	WXS	Illumina GAIIx	Phase_I	P10153	RNAS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(11;6.3e-09)|Epithelial(56;1.42e-07)|all cancers(55;5.48e-07)	GBM - Glioblastoma multiforme(265;0.0187)	2	240	+	all_cancers(95;0.00381)		50					Q52M39|Q9H2B7|Q9UCG7	Silent	SNP	ENST00000304625.2	37	c.150C>T	CCDS9561.1																																																																																				0.438	RNASE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073799.2			4	210	0	0	0	1	0	4	210				
ZNF318	24149	broad.mit.edu	37	6	43323361	43323361	+	Missense_Mutation	SNP	G	G	A			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr6:43323361G>A	ENST00000361428.2	-	4	1788	c.1711C>T	c.(1711-1713)Ccg>Tcg	p.P571S	ZNF318_ENST00000318149.3_Missense_Mutation_p.P571S	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	571					meiotic nuclear division (GO:0007126)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			GCTGAAGACGGCAGGGAGCTT	0.478																																						ENST00000361428.2																			0				autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61						c.(1711-1713)Ccg>Tcg		zinc finger protein 318							102.0	107.0	105.0					6																	43323361		2203	4300	6503	SO:0001583	missense	24149				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding	g.chr6:43323361G>A	AF090114	CCDS4895.2	6p21.1	2013-09-19			ENSG00000171467	ENSG00000171467		"""Zinc fingers, C2H2-type"""	13578	protein-coding gene	gene with protein product						10873617	Standard	NM_014345		Approved	HRIHFB2436, ZFP318	uc003oux.3	Q5VUA4	OTTHUMG00000014732	ENST00000361428.2:c.1711C>T	6.37:g.43323361G>A	ENSP00000354964:p.Pro571Ser		Somatic				ZNF318_ENST00000318149.3_Missense_Mutation_p.P571S	p.P571S	NM_014345.2	NP_055160.2	WXS	Illumina GAIIx	Phase_I	Q5VUA4	ZN318_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)		4	1788	-			571					O94796|Q4G0E4|Q8NEM6|Q9UNU8|Q9Y2W9	Missense_Mutation	SNP	ENST00000361428.2	37	c.1711C>T	CCDS4895.2	.	.	.	.	.	.	.	.	.	.	G	14.13	2.442370	0.43326	.	.	ENSG00000171467	ENST00000318149;ENST00000361428	T;T	0.03004	4.08;4.08	6.17	3.41	0.39046	.	0.191512	0.44483	N	0.000444	T	0.03053	0.0090	L	0.29908	0.895	0.32305	N	0.56452	D	0.54772	0.968	P	0.62813	0.907	T	0.44174	-0.9345	10	0.42905	T	0.14	-2.2708	8.5433	0.33406	0.1211:0.0:0.7537:0.1252	.	571	Q5VUA4	ZN318_HUMAN	S	571	ENSP00000323032:P571S;ENSP00000354964:P571S	ENSP00000323032:P571S	P	-	1	0	ZNF318	43431339	0.987000	0.35691	0.574000	0.28523	0.728000	0.41692	1.656000	0.37355	0.459000	0.27016	0.655000	0.94253	CCG		0.478	ZNF318-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040601.2	NM_014345		6	538	0	0	0	1	0	6	538				
ARAP2	116984	broad.mit.edu	37	4	36069579	36069579	+	Missense_Mutation	SNP	G	G	A	rs377015356		TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr4:36069579G>A	ENST00000303965.4	-	33	5554	c.5065C>T	c.(5065-5067)Cgg>Tgg	p.R1689W		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	1689					regulation of ARF GTPase activity (GO:0032312)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						GTTCTTGACCGTTGTAGAACC	0.358																																						ENST00000303965.4																			0				breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						c.(5065-5067)Cgg>Tgg		ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2							97.0	98.0	98.0					4																	36069579		2203	4300	6503	SO:0001583	missense	116984				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding	g.chr4:36069579G>A	AF411982	CCDS3441.1	4p15.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000047365	ENSG00000047365		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16924	protein-coding gene	gene with protein product		606645	"""centaurin, delta 1"""	CENTD1			Standard	NM_015230		Approved	PARX	uc003gsq.2	Q8WZ64	OTTHUMG00000097811	ENST00000303965.4:c.5065C>T	4.37:g.36069579G>A	ENSP00000302895:p.Arg1689Trp		Somatic					p.R1689W	NM_015230.3	NP_056045.2	WXS	Illumina GAIIx	Phase_I	Q8WZ64	ARAP2_HUMAN			33	5554	-			1689					Q4W5D2|Q7Z2L5|Q96L70|Q96P49|Q9Y4E4	Missense_Mutation	SNP	ENST00000303965.4	37	c.5065C>T	CCDS3441.1	.	.	.	.	.	.	.	.	.	.	G	16.25	3.069954	0.55539	.	.	ENSG00000047365	ENST00000303965	T	0.10573	2.86	5.79	2.62	0.31277	.	0.081885	0.48286	D	0.000197	T	0.19327	0.0464	L	0.32530	0.975	0.26832	N	0.968552	D	0.89917	1.0	D	0.65573	0.936	T	0.02391	-1.1166	10	0.87932	D	0	.	12.1751	0.54180	0.0:0.0:0.5359:0.4641	.	1689	Q8WZ64	ARAP2_HUMAN	W	1689	ENSP00000302895:R1689W	ENSP00000302895:R1689W	R	-	1	2	ARAP2	35745974	0.543000	0.26434	0.703000	0.30354	0.768000	0.43524	1.288000	0.33296	0.691000	0.31592	0.650000	0.86243	CGG		0.358	ARAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215074.2	NM_015230		4	244	0	0	0	1	0	4	244				
NUCB2	4925	broad.mit.edu	37	11	17323307	17323307	+	Missense_Mutation	SNP	A	A	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr11:17323307A>C	ENST00000529010.1	+	5	488	c.269A>C	c.(268-270)aAa>aCa	p.K90T	NUCB2_ENST00000323688.6_Missense_Mutation_p.K90T|NUCB2_ENST00000458064.2_Missense_Mutation_p.K90T	NM_005013.2	NP_005004	P80303	NUCB2_HUMAN	nucleobindin 2	90						cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nuclear outer membrane (GO:0005640)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)			kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						AGGCTAAGCAAAGAACTGGAT	0.328																																						ENST00000529010.1																			0				kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						c.(268-270)aAa>aCa		nucleobindin 2							110.0	102.0	104.0					11																	17323307		1850	4096	5946	SO:0001583	missense	4925					cytosol|ER-Golgi intermediate compartment|extracellular space|Golgi apparatus|plasma membrane	calcium ion binding|DNA binding	g.chr11:17323307A>C	AF052642	CCDS41623.1	11p15.1	2013-01-10						"""EF-hand domain containing"""	8044	protein-coding gene	gene with protein product		608020				7811391	Standard	NM_005013		Approved	NEFA	uc001mmw.3	P80303		ENST00000529010.1:c.269A>C	11.37:g.17323307A>C	ENSP00000436455:p.Lys90Thr		Somatic				NUCB2_ENST00000458064.2_Missense_Mutation_p.K90T|NUCB2_ENST00000323688.6_Missense_Mutation_p.K90T	p.K90T	NM_005013.2	NP_005004.1	WXS	Illumina GAIIx	Phase_I	P80303	NUCB2_HUMAN			5	488	+			90					A8K642|D3DQX5|Q8NFT5	Missense_Mutation	SNP	ENST00000529010.1	37	c.269A>C	CCDS41623.1	.	.	.	.	.	.	.	.	.	.	A	16.11	3.029778	0.54790	.	.	ENSG00000070081	ENST00000530527;ENST00000323688;ENST00000529010;ENST00000529313;ENST00000533926;ENST00000458064	T;T;T	0.19669	2.13;2.13;2.14	5.8	4.67	0.58626	.	0.087191	0.85682	D	0.000000	T	0.28034	0.0691	M	0.72894	2.215	0.41694	D	0.989364	B;B;B	0.32526	0.374;0.258;0.258	B;B;B	0.38225	0.268;0.064;0.064	T	0.05305	-1.0893	10	0.59425	D	0.04	-13.883	9.5698	0.39420	0.8478:0.0:0.1522:0.0	.	90;90;90	E7EV42;P80303;D3DQX5	.;NUCB2_HUMAN;.	T	90	ENSP00000320168:K90T;ENSP00000436455:K90T;ENSP00000408702:K90T	ENSP00000320168:K90T	K	+	2	0	NUCB2	17279883	1.000000	0.71417	1.000000	0.80357	0.777000	0.43975	6.283000	0.72646	1.016000	0.39470	0.533000	0.62120	AAA		0.328	NUCB2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387614.2	NM_005013		4	267	0	0	0	1	0	4	267				
ADAR	103	broad.mit.edu	37	1	154560618	154560618	+	Missense_Mutation	SNP	C	C	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr1:154560618C>T	ENST00000368474.4	-	11	3201	c.3002G>A	c.(3001-3003)cGc>cAc	p.R1001H	ADAR_ENST00000292205.5_Missense_Mutation_p.R1044H|ADAR_ENST00000368471.3_Missense_Mutation_p.R706H	NM_001111.4|NM_015840.3|NM_015841.3	NP_001102|NP_056655.2|NP_056656.2	P55265	DSRAD_HUMAN	adenosine deaminase, RNA-specific	1001	A to I editase. {ECO:0000255|PROSITE- ProRule:PRU00240}.				adenosine to inosine editing (GO:0006382)|base conversion or substitution editing (GO:0016553)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|miRNA loading onto RISC involved in gene silencing by miRNA (GO:0035280)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|negative regulation of viral genome replication (GO:0045071)|positive regulation of viral genome replication (GO:0045070)|pre-miRNA processing (GO:0031054)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|supraspliceosomal complex (GO:0044530)	DNA binding (GO:0003677)|double-stranded RNA adenosine deaminase activity (GO:0003726)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		CACCTTGGTGCGGAGCTTTCC	0.562																																						ENST00000368474.4																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51						c.(3001-3003)cGc>cAc		adenosine deaminase, RNA-specific							255.0	230.0	238.0					1																	154560618		2203	4300	6503	SO:0001583	missense	103				adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway	cytoplasm|nucleolus|nucleoplasm	DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding	g.chr1:154560618C>T	BC038227	CCDS1071.1, CCDS30879.1	1q21.3	2012-03-22			ENSG00000160710	ENSG00000160710	3.5.4.-		225	protein-coding gene	gene with protein product		146920	"""interferon-induced protein 4"""	IFI4, G1P1		7972084	Standard	NM_001111		Approved	ADAR1	uc001ffh.3	P55265	OTTHUMG00000037261	ENST00000368474.4:c.3002G>A	1.37:g.154560618C>T	ENSP00000357459:p.Arg1001His		Somatic				ADAR_ENST00000368471.3_Missense_Mutation_p.R706H|ADAR_ENST00000292205.5_Missense_Mutation_p.R1044H	p.R1001H	NM_001111.4|NM_015840.3|NM_015841.3	NP_001102.2|NP_056655.2|NP_056656.2	WXS	Illumina GAIIx	Phase_I	P55265	DSRAD_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)	11	3201	-	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		1001			A to I editase.		B1AQQ9|B1AQR0|D3DV76|O15223|O43859|O43860|Q9BYM3|Q9BYM4	Missense_Mutation	SNP	ENST00000368474.4	37	c.3002G>A	CCDS1071.1	.	.	.	.	.	.	.	.	.	.	C	35	5.477339	0.96291	.	.	ENSG00000160710	ENST00000292205;ENST00000368474;ENST00000368471;ENST00000529168	D;D;D;D	0.94280	-3.39;-3.39;-3.39;-3.39	5.58	5.58	0.84498	Adenosine deaminase/editase (3);	0.000000	0.85682	D	0.000000	D	0.96309	0.8796	M	0.74546	2.27	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	D	0.95625	0.8684	10	0.51188	T	0.08	-18.9183	19.5563	0.95349	0.0:1.0:0.0:0.0	.	956;975;1001	P55265-3;P55265-2;P55265	.;.;DSRAD_HUMAN	H	1044;1001;706;970	ENSP00000292205:R1044H;ENSP00000357459:R1001H;ENSP00000357456:R706H;ENSP00000431794:R970H	ENSP00000292205:R1044H	R	-	2	0	ADAR	152827242	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.245000	0.78237	2.628000	0.89032	0.650000	0.86243	CGC		0.562	ADAR-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000090691.2	NM_001111		7	485	0	0	0	1	0	7	485				
KANSL1L	151050	broad.mit.edu	37	2	211019250	211019250	+	Silent	SNP	T	T	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr2:211019250T>C	ENST00000281772.9	-	2	320	c.57A>G	c.(55-57)ccA>ccG	p.P19P	KANSL1L_ENST00000429908.2_5'UTR|KANSL1L_ENST00000457374.1_Silent_p.P19P|KANSL1L_ENST00000452086.1_Silent_p.P19P|KANSL1L_ENST00000418791.1_Silent_p.P19P	NM_152519.2	NP_689732.2	A0AUZ9	KAL1L_HUMAN	KAT8 regulatory NSL complex subunit 1-like	19						histone acetyltransferase complex (GO:0000123)											CCATGGTACTTGGCAAAGATG	0.433																																						ENST00000281772.9																			0											c.(55-57)ccA>ccG		KAT8 regulatory NSL complex subunit 1-like							73.0	71.0	72.0					2																	211019250		2203	4300	6503	SO:0001819	synonymous_variant	151050							g.chr2:211019250T>C	AK074441	CCDS33370.1	2q34	2012-02-20	2012-02-20	2012-02-20	ENSG00000144445	ENSG00000144445			26310	protein-coding gene	gene with protein product	"""KIAA1267-like"""	613833	"""chromosome 2 open reading frame 67"""	C2orf67		12477932	Standard	NM_152519		Approved	FLJ23861, FLJ32349, MSL1v2, KIAA1267L	uc002vds.3	A0AUZ9	OTTHUMG00000154697	ENST00000281772.9:c.57A>G	2.37:g.211019250T>C			Somatic				KANSL1L_ENST00000429908.2_5'UTR|KANSL1L_ENST00000457374.1_Silent_p.P19P|KANSL1L_ENST00000418791.1_Silent_p.P19P|KANSL1L_ENST00000452086.1_Silent_p.P19P	p.P19P	NM_152519.2	NP_689732.2	WXS	Illumina GAIIx	Phase_I	A0AUZ9	CB067_HUMAN			2	320	-			19					B7ZLN1|I6L9A8|Q53TV8|Q53TW3|Q6IS05|Q8TCI1|Q96MI0|Q9UFC3	Silent	SNP	ENST00000281772.9	37	c.57A>G	CCDS33370.1																																																																																				0.433	KANSL1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336633.3	NM_152519		4	171	0	0	0	1	0	4	171				
TRAF3IP1	26146	broad.mit.edu	37	2	239234537	239234537	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr2:239234537C>T	ENST00000373327.4	+	3	502	c.280C>T	c.(280-282)Cga>Tga	p.R94*	TRAF3IP1_ENST00000391994.2_Nonsense_Mutation_p.R94*|TRAF3IP1_ENST00000391993.3_Nonsense_Mutation_p.R94*	NM_015650.3	NP_056465.2	Q8TDR0	MIPT3_HUMAN	TNF receptor-associated factor 3 interacting protein 1	94	Abolishes microtubules-binding when missing.				cilium assembly (GO:0042384)|embryonic camera-type eye development (GO:0031076)|embryonic digit morphogenesis (GO:0042733)|embryonic heart tube development (GO:0035050)|intraciliary transport (GO:0042073)|negative regulation of defense response to virus (GO:0050687)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|neural tube patterning (GO:0021532)|post-anal tail morphogenesis (GO:0036342)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|skin(2)	23		all_epithelial(40;3.22e-10)|Breast(86;0.000523)|Renal(207;0.00571)|Ovarian(221;0.156)|all_hematologic(139;0.182)		Epithelial(121;9.92e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.85e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.01e-07)|BRCA - Breast invasive adenocarcinoma(100;7.72e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0184)		CAAACCAGCCCGAATCGTGGC	0.473																																						ENST00000373327.4																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|skin(2)	23						c.(280-282)Cga>Tga		TNF receptor-associated factor 3 interacting protein 1							82.0	75.0	78.0					2																	239234537		2203	4300	6503	SO:0001587	stop_gained	26146					cytoplasm|cytoskeleton	protein binding	g.chr2:239234537C>T	AF230877	CCDS33415.1, CCDS46557.1	2q37.3	2014-02-21			ENSG00000204104	ENSG00000204104		"""Intraflagellar transport homologs"""	17861	protein-coding gene	gene with protein product	"""microtubule interacting protein that associates with TRAF3"""	607380				10791955, 12935900	Standard	NM_015650		Approved	MIP-T3, DKFZP434F124, MIPT3, IFT54	uc002vye.3	Q8TDR0	OTTHUMG00000152872	ENST00000373327.4:c.280C>T	2.37:g.239234537C>T	ENSP00000362424:p.Arg94*		Somatic				TRAF3IP1_ENST00000391993.3_Nonsense_Mutation_p.R94*|TRAF3IP1_ENST00000391994.2_Nonsense_Mutation_p.R94*	p.R94*	NM_015650.3	NP_056465.2	WXS	Illumina GAIIx	Phase_I	Q8TDR0	MIPT3_HUMAN		Epithelial(121;9.92e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.85e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.01e-07)|BRCA - Breast invasive adenocarcinoma(100;7.72e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0184)	3	502	+		all_epithelial(40;3.22e-10)|Breast(86;0.000523)|Renal(207;0.00571)|Ovarian(221;0.156)|all_hematologic(139;0.182)	94			Abolishes microtubules-binding when missing.		Q6PCT1|Q7L8N9|Q9NRD6|Q9Y4Q1	Nonsense_Mutation	SNP	ENST00000373327.4	37	c.280C>T	CCDS33415.1	.	.	.	.	.	.	.	.	.	.	C	37	6.215398	0.97385	.	.	ENSG00000204104	ENST00000391993;ENST00000373327;ENST00000391994;ENST00000440998	.	.	.	4.33	1.16	0.20824	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.5934	12.6887	0.56962	0.4431:0.5569:0.0:0.0	.	.	.	.	X	94	.	ENSP00000362424:R94X	R	+	1	2	TRAF3IP1	238899276	0.872000	0.30054	0.056000	0.19401	0.927000	0.56198	1.757000	0.38400	0.236000	0.21180	-0.181000	0.13052	CGA		0.473	TRAF3IP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000328312.1	NM_015650		4	210	0	0	0	1	0	4	210				
DIS3	22894	broad.mit.edu	37	13	73335578	73335578	+	Missense_Mutation	SNP	G	G	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr13:73335578G>T	ENST00000377767.4	-	19	2693	c.2593C>A	c.(2593-2595)Cca>Aca	p.P865T	DIS3_ENST00000545453.1_Missense_Mutation_p.P703T|DIS3_ENST00000377780.4_Missense_Mutation_p.P835T	NM_014953.3	NP_055768.3	Q9Y2L1	RRP44_HUMAN	DIS3 exosome endoribonuclease and 3'-5' exoribonuclease	865					CUT catabolic process (GO:0071034)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of GTPase activity (GO:0043547)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA catabolic process (GO:0016075)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|membrane (GO:0016020)|nuclear exosome (RNase complex) (GO:0000176)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	3'-5'-exoribonuclease activity (GO:0000175)|endonuclease activity (GO:0004519)|guanyl-nucleotide exchange factor activity (GO:0005085)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(7)|kidney(5)|large_intestine(10)|lung(6)|prostate(2)|skin(1)	35		Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195)		GBM - Glioblastoma multiforme(99;0.000181)		CCATACTTTGGAATTAATACC	0.318										Multiple Myeloma(4;0.011)																												ENST00000377767.4																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(7)|kidney(5)|large_intestine(10)|lung(6)|prostate(2)|skin(1)	35						c.(2593-2595)Cca>Aca		DIS3 mitotic control homolog (S. cerevisiae)							95.0	100.0	98.0					13																	73335578		2203	4300	6503	SO:0001583	missense	22894				CUT catabolic process|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA catabolic process|rRNA processing	cytosol|exosome (RNase complex)|nucleolus|nucleoplasm	3'-5'-exoribonuclease activity|endonuclease activity|guanyl-nucleotide exchange factor activity|protein binding|RNA binding	g.chr13:73335578G>T	AB023225	CCDS9447.1, CCDS45057.1	13q21.32	2014-03-05	2014-03-05	2007-01-12	ENSG00000083520	ENSG00000083520			20604	protein-coding gene	gene with protein product	"""exosome component 11"""	607533	"""KIAA1008"", ""DIS3 mitotic control homolog (S. cerevisiae)"""	KIAA1008		11935316, 9562621	Standard	XM_005266294		Approved	dis3p, RRP44, EXOSC11	uc001vix.4	Q9Y2L1	OTTHUMG00000017070	ENST00000377767.4:c.2593C>A	13.37:g.73335578G>T	ENSP00000366997:p.Pro865Thr	Multiple Myeloma(4;0.011)	Somatic				DIS3_ENST00000377780.4_Missense_Mutation_p.P835T|DIS3_ENST00000545453.1_Missense_Mutation_p.P703T	p.P865T	NM_014953.3	NP_055768.3	WXS	Illumina GAIIx	Phase_I	Q9Y2L1	RRP44_HUMAN		GBM - Glioblastoma multiforme(99;0.000181)	19	2693	-		Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195)	865					A6NI21|B2RBL2|Q5W0P7|Q5W0P8|Q658Z7|Q7Z481|Q8WWI2|Q9UG36	Missense_Mutation	SNP	ENST00000377767.4	37	c.2593C>A	CCDS9447.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.997169	0.74818	.	.	ENSG00000083520	ENST00000377767;ENST00000377780;ENST00000545453	T;T;T	0.28895	1.6;1.59;1.6	5.86	5.02	0.67125	.	0.000000	0.85682	D	0.000000	T	0.64114	0.2569	M	0.91920	3.255	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.995	T	0.73594	-0.3933	10	0.66056	D	0.02	.	15.1673	0.72840	0.0676:0.0:0.9324:0.0	.	835;865	Q9Y2L1-2;Q9Y2L1	.;RRP44_HUMAN	T	865;835;703	ENSP00000366997:P865T;ENSP00000367011:P835T;ENSP00000440058:P703T	ENSP00000366997:P865T	P	-	1	0	DIS3	72233579	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.770000	0.85390	1.486000	0.48398	-0.150000	0.13652	CCA		0.318	DIS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045250.2	NM_014953		12	66	1	0	1.36491e-13	1	1.5833e-13	12	66				
RNF40	9810	broad.mit.edu	37	16	30780684	30780684	+	Missense_Mutation	SNP	G	G	A			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr16:30780684G>A	ENST00000324685.6	+	16	2860	c.2425G>A	c.(2425-2427)Gag>Aag	p.E809K	RNF40_ENST00000567365.1_3'UTR|RNF40_ENST00000563683.1_Missense_Mutation_p.E769K|RNF40_ENST00000357890.5_Missense_Mutation_p.E709K|RNF40_ENST00000402121.3_Missense_Mutation_p.E501K	NM_001207033.1|NM_014771.3	NP_001193962.1|NP_055586	O75150	BRE1B_HUMAN	ring finger protein 40, E3 ubiquitin protein ligase	809					histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|ubiquitin-dependent protein catabolic process (GO:0006511)	HULC complex (GO:0033503)|membrane (GO:0016020)|neuron projection (GO:0043005)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)	30			Colorectal(24;0.198)			GGAGAAGGATGAGTTGGGCGA	0.582																																						ENST00000324685.6																			0				central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)	30						c.(2425-2427)Gag>Aag		ring finger protein 40, E3 ubiquitin protein ligase							107.0	111.0	109.0					16																	30780684		2197	4300	6497	SO:0001583	missense	9810				histone H2B ubiquitination|histone monoubiquitination|ubiquitin-dependent protein catabolic process	nucleus|synaptosome|ubiquitin ligase complex	protein homodimerization activity|ubiquitin protein ligase binding|zinc ion binding	g.chr16:30780684G>A	AB014561	CCDS10691.1, CCDS55994.1	16p11.2-p11.1	2012-02-23	2012-02-23		ENSG00000103549	ENSG00000103549		"""RING-type (C3HC4) zinc fingers"""	16867	protein-coding gene	gene with protein product	"""BRE1 E3 ubiquitin ligase homolog B (S. cerevisiae)"""	607700	"""ring finger protein 40"""			9734811, 10944455, 12121982	Standard	NM_014771		Approved	KIAA0661, RBP95, BRE1B, STARING	uc002dzq.3	O75150	OTTHUMG00000132394	ENST00000324685.6:c.2425G>A	16.37:g.30780684G>A	ENSP00000325677:p.Glu809Lys		Somatic				RNF40_ENST00000402121.3_Missense_Mutation_p.E501K|RNF40_ENST00000357890.5_Missense_Mutation_p.E709K|RNF40_ENST00000563683.1_Missense_Mutation_p.E769K|RNF40_ENST00000567365.1_3'UTR	p.E809K	NM_001207033.1|NM_014771.3	NP_001193962.1|NP_055586.1	WXS	Illumina GAIIx	Phase_I	O75150	BRE1B_HUMAN	Colorectal(24;0.198)		16	2860	+			809					Q6AHZ6|Q6N005|Q7L3T6|Q8N615|Q96T18|Q9BSV9|Q9HC82	Missense_Mutation	SNP	ENST00000324685.6	37	c.2425G>A	CCDS10691.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.827250	0.90955	.	.	ENSG00000103549	ENST00000324685;ENST00000357890;ENST00000402121;ENST00000538323	T;T;T	0.32272	1.46;1.48;1.48	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.54565	0.1866	L	0.57536	1.79	0.80722	D	1	B;P;D;D;D	0.89917	0.442;0.93;1.0;1.0;0.999	B;P;D;D;D	0.91635	0.219;0.503;0.999;0.997;0.993	T	0.48917	-0.8992	10	0.54805	T	0.06	-37.1002	19.1176	0.93348	0.0:0.0:1.0:0.0	.	141;501;709;809;809	F6SYU7;F8W8Z4;O75150-4;A8K6K1;O75150	.;.;.;.;BRE1B_HUMAN	K	809;709;501;141	ENSP00000325677:E809K;ENSP00000350563:E709K;ENSP00000384942:E501K	ENSP00000325677:E809K	E	+	1	0	RNF40	30688185	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	6.427000	0.73378	2.884000	0.98904	0.655000	0.94253	GAG		0.582	RNF40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255524.2	NM_014771		6	78	0	0	0	1	0	6	78				
CD8A	925	broad.mit.edu	37	2	87013077	87013077	+	Missense_Mutation	SNP	C	C	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr2:87013077C>T	ENST00000409511.2	-	9	1704	c.674G>A	c.(673-675)gGa>gAa	p.G225E	CD8A_ENST00000352580.3_Missense_Mutation_p.G188E|CD8A_ENST00000283635.3_Missense_Mutation_p.G225E|CD8A_ENST00000456996.2_Missense_Mutation_p.G188E|CD8A_ENST00000409781.1_Missense_Mutation_p.G188E|CD8A_ENST00000538832.1_Missense_Mutation_p.G266E	NM_001145873.1	NP_001139345.1	P01732	CD8A_HUMAN	CD8a molecule	225					antigen processing and presentation (GO:0019882)|cytotoxic T cell differentiation (GO:0045065)|defense response to virus (GO:0051607)|immune response (GO:0006955)|positive regulation of calcium-mediated signaling (GO:0050850)|regulation of immune response (GO:0050776)|T cell activation (GO:0042110)|T cell mediated immunity (GO:0002456)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	coreceptor activity (GO:0015026)|MHC class I protein binding (GO:0042288)			lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	8						GGGCTTGTCTCCCGATTTGAC	0.542																																						ENST00000409511.2																			0				lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	8						c.(673-675)gGa>gAa		CD8a molecule							174.0	170.0	171.0					2																	87013077		2203	4300	6503	SO:0001583	missense	925				antigen processing and presentation|regulation of immune response|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane|T cell receptor complex	coreceptor activity|MHC class I protein binding	g.chr2:87013077C>T		CCDS1992.1, CCDS1993.1	2p12	2014-09-17	2006-03-28		ENSG00000153563	ENSG00000153563		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	1706	protein-coding gene	gene with protein product		186910	"""CD8 antigen, alpha polypeptide (p32)"", ""T-cell surface glycoprotein CD8 alpha chain"""	CD8		1541829	Standard	NM_171827		Approved		uc002sru.3	P01732	OTTHUMG00000130265	ENST00000409511.2:c.674G>A	2.37:g.87013077C>T	ENSP00000386559:p.Gly225Glu		Somatic				CD8A_ENST00000538832.1_Missense_Mutation_p.G266E|CD8A_ENST00000283635.3_Missense_Mutation_p.G225E|CD8A_ENST00000352580.3_Missense_Mutation_p.G188E|CD8A_ENST00000409781.1_Missense_Mutation_p.G188E|CD8A_ENST00000456996.2_Missense_Mutation_p.G188E	p.G225E	NM_001145873.1	NP_001139345.1	WXS	Illumina GAIIx	Phase_I	P01732	CD8A_HUMAN			9	1704	-			225					B4DT80|D6W5M8|Q13970|Q4ZG17	Missense_Mutation	SNP	ENST00000409511.2	37	c.674G>A	CCDS1992.1	.	.	.	.	.	.	.	.	.	.	C	11.51	1.658902	0.29515	.	.	ENSG00000153563	ENST00000456996;ENST00000352580;ENST00000283635;ENST00000409511;ENST00000442577;ENST00000538832;ENST00000409781	T;T;T;T;T;T	0.81247	-1.47;-1.47;-1.04;-1.04;-1.11;-1.1	3.94	-1.32	0.09201	.	0.711919	0.14019	N	0.346937	D	0.83547	0.5278	M	0.72118	2.19	0.29720	N	0.838733	B;P;D	0.76494	0.404;0.539;0.999	B;B;D	0.63597	0.075;0.156;0.916	T	0.75519	-0.3289	10	0.37606	T	0.19	-1.0083	5.7847	0.18326	0.0:0.3112:0.4885:0.2003	.	266;188;225	B4DT80;P01732-2;P01732	.;.;CD8A_HUMAN	E	188;188;225;225;210;266;188	ENSP00000398868:G188E;ENSP00000321631:G188E;ENSP00000283635:G225E;ENSP00000386559:G225E;ENSP00000438371:G266E;ENSP00000387314:G188E	ENSP00000283635:G225E	G	-	2	0	CD8A	86866588	0.435000	0.25577	0.557000	0.28306	0.213000	0.24496	-0.179000	0.09768	-0.278000	0.09180	0.655000	0.94253	GGA		0.542	CD8A-006	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000330784.3	NM_001768		6	150	0	0	0	1	0	6	150				
GLI3	2737	broad.mit.edu	37	7	42063104	42063104	+	Missense_Mutation	SNP	C	C	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr7:42063104C>T	ENST00000395925.3	-	10	1544	c.1460G>A	c.(1459-1461)tGc>tAc	p.C487Y	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	487					anterior semicircular canal development (GO:0060873)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye morphogenesis (GO:0048593)|cell differentiation involved in kidney development (GO:0061005)|cerebral cortex radial glia guided migration (GO:0021801)|developmental growth (GO:0048589)|embryonic digestive tract development (GO:0048566)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain radial glial cell differentiation (GO:0021861)|frontal suture morphogenesis (GO:0060364)|heart development (GO:0007507)|hindgut morphogenesis (GO:0007442)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|lambdoid suture morphogenesis (GO:0060366)|lateral ganglionic eminence cell proliferation (GO:0022018)|lateral semicircular canal development (GO:0060875)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|mammary gland specification (GO:0060594)|melanocyte differentiation (GO:0030318)|metanephros development (GO:0001656)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative thymic T cell selection (GO:0045060)|nose morphogenesis (GO:0043585)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte differentiation (GO:0048709)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein processing (GO:0016485)|proximal/distal pattern formation (GO:0009954)|response to estrogen (GO:0043627)|sagittal suture morphogenesis (GO:0060367)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)|T cell differentiation in thymus (GO:0033077)|thymocyte apoptotic process (GO:0070242)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|primary cilium (GO:0072372)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						CTCCCTCGCGCAGCCTTCCCA	0.532									Pallister-Hall syndrome;Greig Cephalopolysyndactyly																													ENST00000395925.3																			0				NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						c.(1459-1461)tGc>tAc		GLI family zinc finger 3							155.0	118.0	130.0					7																	42063104		2203	4300	6503	SO:0001583	missense	2737	Pallister-Hall syndrome;Greig Cephalopolysyndactyly	Familial Cancer Database	;	negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:42063104C>T		CCDS5465.1	7p13	2013-01-25	2009-03-05		ENSG00000106571	ENSG00000106571		"""Zinc fingers, C2H2-type"""	4319	protein-coding gene	gene with protein product	"""zinc finger protein GLI3"", ""oncogene GLI3"", ""DNA-binding protein"""	165240	"""Greig cephalopolysyndactyly syndrome"", ""GLI-Kruppel family member GLI3"", ""glioma-associated oncogene family zinc finger 3"""	GCPS, PHS		2118997	Standard	NM_000168		Approved	PAP-A, PAPA, PAPA1, PAPB, ACLS, PPDIV	uc011kbh.2	P10071	OTTHUMG00000023630	ENST00000395925.3:c.1460G>A	7.37:g.42063104C>T	ENSP00000379258:p.Cys487Tyr		Somatic				GLI3_ENST00000479210.1_5'UTR	p.C487Y	NM_000168.5	NP_000159.3	WXS	Illumina GAIIx	Phase_I	P10071	GLI3_HUMAN			10	1544	-			487					A4D1W1|O75219|Q17RW4|Q75MT0|Q75MU9|Q9UDT5|Q9UJ39	Missense_Mutation	SNP	ENST00000395925.3	37	c.1460G>A	CCDS5465.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.724912	0.89298	.	.	ENSG00000106571	ENST00000395925	D	0.96136	-3.92	5.78	5.78	0.91487	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.000000	0.85682	D	0.000000	D	0.98760	0.9583	H	0.97635	4.045	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99257	1.0889	10	0.87932	D	0	.	20.0139	0.97470	0.0:1.0:0.0:0.0	.	487	P10071	GLI3_HUMAN	Y	487	ENSP00000379258:C487Y	ENSP00000379258:C487Y	C	-	2	0	GLI3	42029629	1.000000	0.71417	0.984000	0.44739	0.993000	0.82548	7.818000	0.86416	2.724000	0.93272	0.563000	0.77884	TGC		0.532	GLI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250806.3	NM_000168		4	175	0	0	0	1	0	4	175				
DPH7	92715	broad.mit.edu	37	9	140469236	140469236	+	Silent	SNP	C	C	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr9:140469236C>T	ENST00000277540.2	-	4	592	c.435G>A	c.(433-435)ttG>ttA	p.L145L	DPH7_ENST00000479650.1_5'UTR	NM_138778.2	NP_620133.1	Q9BTV6	DPH7_HUMAN	diphthamide biosynthesis 7	145					peptidyl-diphthamide biosynthetic process from peptidyl-histidine (GO:0017183)												AATCTAGGGACAAAGCCAGAC	0.537																																						ENST00000277540.2																			0											c.(433-435)ttG>ttA		diphthamide biosynthesis 7							159.0	158.0	158.0					9																	140469236		2203	4300	6503	SO:0001819	synonymous_variant	92715							g.chr9:140469236C>T	AK075115	CCDS7047.1	9q34.3	2013-06-20	2013-06-20	2013-06-20	ENSG00000148399	ENSG00000148399		"""WD repeat domain containing"""	25199	protein-coding gene	gene with protein product		613210	"""chromosome 9 open reading frame 112"", ""WD repeat domain 85"""	C9orf112, WDR85		23486472	Standard	NM_138778		Approved	FLJ90634, RRT2	uc004cnk.1	Q9BTV6	OTTHUMG00000020991	ENST00000277540.2:c.435G>A	9.37:g.140469236C>T			Somatic				DPH7_ENST00000479650.1_5'UTR	p.L145L	NM_138778.2	NP_620133.1	WXS	Illumina GAIIx	Phase_I					4	592	-								Q96AB7	Silent	SNP	ENST00000277540.2	37	c.435G>A	CCDS7047.1																																																																																				0.537	DPH7-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055350.1	NM_138778		14	91	0	0	0	1	0	14	91				
SCUBE2	57758	broad.mit.edu	37	11	9077401	9077401	+	Silent	SNP	A	A	G			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr11:9077401A>G	ENST00000309263.3	-	10	1218	c.1146T>C	c.(1144-1146)ccT>ccC	p.P382P	RP11-467K18.2_ENST00000521394.2_RNA|SCUBE2_ENST00000450649.2_Silent_p.P382P|RP11-467K18.2_ENST00000531592.1_RNA|SCUBE2_ENST00000520467.1_Silent_p.P382P|SCUBE2_ENST00000457346.2_Silent_p.P382P			Q9NQ36	SCUB2_HUMAN	signal peptide, CUB domain, EGF-like 2	382	EGF-like 8; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			breast(1)|endometrium(5)|kidney(3)|large_intestine(15)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42				all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)		CAAATGTGCCAGGGTGGTTGA	0.552																																						ENST00000457346.2																			0				breast(1)|endometrium(5)|kidney(3)|large_intestine(15)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42						c.(1144-1146)ccT>ccC		signal peptide, CUB domain, EGF-like 2							237.0	200.0	213.0					11																	9077401		2201	4296	6497	SO:0001819	synonymous_variant	57758					extracellular region	calcium ion binding	g.chr11:9077401A>G	AK131552	CCDS7797.1, CCDS7797.2, CCDS53599.1	11p15.4	2014-09-04			ENSG00000175356	ENSG00000175356			30425	protein-coding gene	gene with protein product		611747				12270931, 11528127	Standard	NM_020974		Approved	Cegf1, Cegb1, FLJ16792	uc001mhi.2	Q9NQ36	OTTHUMG00000163880	ENST00000309263.3:c.1146T>C	11.37:g.9077401A>G			Somatic				SCUBE2_ENST00000309263.3_Silent_p.P382P|SCUBE2_ENST00000520467.1_Silent_p.P382P|RP11-467K18.2_ENST00000531592.1_RNA|SCUBE2_ENST00000450649.2_Silent_p.P382P	p.P382P			WXS	Illumina GAIIx	Phase_I	Q9NQ36	SCUB2_HUMAN		all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)	10	1220	-			382			EGF-like 8; calcium-binding (Potential).		Q2NKQ8|Q6ZWI1	Silent	SNP	ENST00000309263.3	37	c.1146T>C		.	.	.	.	.	.	.	.	.	.	A	10.83	1.460848	0.26248	.	.	ENSG00000175356	ENST00000519788;ENST00000531429	.	.	.	6.04	2.26	0.28386	.	.	.	.	.	T	0.42223	0.1193	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.25572	-1.0128	4	.	.	.	.	0.6481	0.00822	0.318:0.2367:0.1211:0.3243	.	.	.	.	P	106;147	.	.	L	-	2	0	SCUBE2	9033977	0.981000	0.34729	0.999000	0.59377	0.998000	0.95712	0.213000	0.17521	0.118000	0.18165	0.460000	0.39030	CTG		0.552	SCUBE2-005	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000385812.2	NM_020974		8	663	0	0	0	1	0	8	663				
TPGS2	25941	broad.mit.edu	37	18	34380218	34380218	+	Silent	SNP	G	G	A			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr18:34380218G>A	ENST00000334295.4	-	5	866	c.439C>T	c.(439-441)Ctg>Ttg	p.L147L	TPGS2_ENST00000589049.1_Silent_p.L147L|TPGS2_ENST00000593035.1_Silent_p.L112L|TPGS2_ENST00000587129.1_Silent_p.L147L|TPGS2_ENST00000590842.1_Silent_p.L147L|TPGS2_ENST00000590652.1_5'UTR|TPGS2_ENST00000383056.3_Silent_p.L104L	NM_015476.2	NP_056291.2	Q68CL5	TPGS2_HUMAN	tubulin polyglutamylase complex subunit 2	147						cytoplasm (GO:0005737)|microtubule (GO:0005874)											CATGAATCCAGCTCAAATATC	0.448																																						ENST00000334295.4																			0											c.(439-441)Ctg>Ttg		tubulin polyglutamylase complex subunit 2							220.0	212.0	215.0					18																	34380218		2203	4300	6503	SO:0001819	synonymous_variant	25941					cytoplasm|microtubule		g.chr18:34380218G>A	BC015178	CCDS32817.1, CCDS62421.1, CCDS62422.1, CCDS62423.1, CCDS62424.1, CCDS74214.1, CCDS74215.1	18q12.2	2011-11-25	2011-11-25	2011-11-25	ENSG00000134779	ENSG00000134779			24561	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 10"""	C18orf10		12477932	Standard	NM_015476		Approved	DKFZP586M1523, HsT3006	uc031rhw.1	Q68CL5		ENST00000334295.4:c.439C>T	18.37:g.34380218G>A			Somatic				TPGS2_ENST00000587129.1_Silent_p.L147L|TPGS2_ENST00000590652.1_5'UTR|TPGS2_ENST00000383056.3_Silent_p.L104L|TPGS2_ENST00000593035.1_Silent_p.L112L|TPGS2_ENST00000589049.1_Silent_p.L147L|TPGS2_ENST00000590842.1_Silent_p.L147L	p.L147L	NM_015476.2	NP_056291.2	WXS	Illumina GAIIx	Phase_I	Q68CL5	TPGS2_HUMAN			5	866	-			147					B4DIX2|K7EIJ9|Q4KN59|Q8WTU3|Q96BT9|Q9Y435	Silent	SNP	ENST00000334295.4	37	c.439C>T	CCDS32817.1																																																																																				0.448	TPGS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000440410.2	NM_015476		5	946	0	0	0	1	0	5	946				
PHKG2	5261	broad.mit.edu	37	16	30762868	30762868	+	Splice_Site	SNP	A	A	G			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr16:30762868A>G	ENST00000563588.1	+	4	510		c.e4-1		PHKG2_ENST00000424889.3_Splice_Site|PHKG2_ENST00000328273.7_Splice_Site|RP11-2C24.4_ENST00000483578.1_lincRNA	NM_000294.2	NP_000285.1	P15735	PHKG2_HUMAN	phosphorylase kinase, gamma 2 (testis)						carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|positive regulation of glycogen catabolic process (GO:0045819)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)	ATP binding (GO:0005524)|phosphorylase kinase activity (GO:0004689)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)			ovary(1)|skin(1)	2			Colorectal(24;0.198)			CTCTCTCCCTAGTCACCCTCA	0.552																																						ENST00000563588.1																			0				ovary(1)|skin(1)	2						c.e4-1		phosphorylase kinase, gamma 2 (testis)							503.0	452.0	469.0					16																	30762868		2197	4300	6497	SO:0001630	splice_region_variant	5261				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	ATP binding|calmodulin binding|phosphorylase kinase activity	g.chr16:30762868A>G	S73483, M31606	CCDS10690.1, CCDS54002.1	16p11.2	2008-02-05			ENSG00000156873	ENSG00000156873			8931	protein-coding gene	gene with protein product		172471				2915644, 8020963	Standard	NM_000294		Approved		uc021tgo.1	P15735	OTTHUMG00000132400	ENST00000563588.1:c.272-1A>G	16.37:g.30762868A>G			Somatic				PHKG2_ENST00000328273.7_Splice_Site|PHKG2_ENST00000424889.3_Splice_Site		NM_000294.2	NP_000285.1	WXS	Illumina GAIIx	Phase_I	P15735	PHKG2_HUMAN	Colorectal(24;0.198)		4	510	+								A8K0C7|B4DEB7|E9PEU3|P11800	Splice_Site	SNP	ENST00000563588.1	37		CCDS10690.1	.	.	.	.	.	.	.	.	.	.	A	17.74	3.462898	0.63513	.	.	ENSG00000156873	ENST00000328273;ENST00000424889	.	.	.	5.03	5.03	0.67393	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.7279	0.62769	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PHKG2	30670369	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	9.248000	0.95456	1.888000	0.54679	0.460000	0.39030	.		0.552	PHKG2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255531.2	NM_000294	Intron	4	492	0	0	0	1	0	4	492				
PREX2	80243	broad.mit.edu	37	8	68973015	68973015	+	Splice_Site	SNP	G	G	A			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr8:68973015G>A	ENST00000288368.4	+	11	1616		c.e11+1		PREX2_ENST00000529398.1_Splice_Site	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2						adult locomotory behavior (GO:0008344)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of Rac GTPase activity (GO:0032855)		Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						ATTCACCATGGTAATTACTTT	0.343																																						ENST00000288368.4																			0				NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						c.e11+1		phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2							69.0	73.0	72.0					8																	68973015		2203	4300	6503	SO:0001630	splice_region_variant	80243				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity	g.chr8:68973015G>A	AK024079	CCDS6201.1	8q13.1	2014-06-13	2008-09-15	2008-09-15	ENSG00000046889	ENSG00000046889		"""Rho guanine nucleotide exchange factors"""	22950	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 129"""	612139	"""DEP domain containing 2"""	DEPDC2		15304342, 15304343	Standard	NM_024870		Approved	DEP.2, FLJ12987, P-REX2, PPP1R129	uc003xxv.1	Q70Z35	OTTHUMG00000164402	ENST00000288368.4:c.1339+1G>A	8.37:g.68973015G>A			Somatic				PREX2_ENST00000529398.1_Splice_Site		NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	WXS	Illumina GAIIx	Phase_I	Q70Z35	PREX2_HUMAN			11	1616	+								B4DFX0|Q32KL0|Q32KL1|Q6R7Q3|Q6R7Q4|Q9H805|Q9H961	Splice_Site	SNP	ENST00000288368.4	37		CCDS6201.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.843193	0.91197	.	.	ENSG00000046889	ENST00000288368;ENST00000396539;ENST00000354677	.	.	.	5.69	5.69	0.88448	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.817	0.96573	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PREX2	69135569	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	9.869000	0.99810	2.678000	0.91216	0.655000	0.94253	.		0.343	PREX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378620.1	NM_025170	Intron	3	91	0	0	0	1	0	3	91				
DHX9	1660	broad.mit.edu	37	1	182853842	182853842	+	Missense_Mutation	SNP	G	G	A			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr1:182853842G>A	ENST00000367549.3	+	27	3465	c.3355G>A	c.(3355-3357)Gct>Act	p.A1119T	DHX9_ENST00000485081.1_3'UTR	NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9	1119					ATP catabolic process (GO:0006200)|cellular response to heat (GO:0034605)|circadian rhythm (GO:0007623)|CRD-mediated mRNA stabilization (GO:0070934)|DNA duplex unwinding (GO:0032508)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|positive regulation of type I interferon production (GO:0032481)|RNA splicing (GO:0008380)	centrosome (GO:0005813)|CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)|RNA polymerase II transcription factor binding (GO:0001085)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						CAAACAACCTGCTATCATCAG	0.473																																					Colon(69;210 1162 3697 13559 39565)	ENST00000367549.3																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						c.(3355-3357)Gct>Act		DEAH (Asp-Glu-Ala-His) box helicase 9							103.0	95.0	98.0					1																	182853842		1993	4169	6162	SO:0001583	missense	1660				CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome	centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding	g.chr1:182853842G>A	L13848	CCDS41444.1	1q25	2013-05-13	2013-05-13	2003-06-20	ENSG00000135829	ENSG00000135829		"""DEAH-boxes"""	2750	protein-coding gene	gene with protein product	"""NDH II"", ""RNA helicase A"""	603115	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 9 (RNA helicase A, nuclear DNA helicase II; leukophysin)"", ""DEAH (Asp-Glu-Ala-His) box polypeptide 9"""	LKP, DDX9		8344961, 9111062	Standard	NM_001357		Approved	RHA	uc001gpr.3	Q08211	OTTHUMG00000035337	ENST00000367549.3:c.3355G>A	1.37:g.182853842G>A	ENSP00000356520:p.Ala1119Thr		Somatic				DHX9_ENST00000485081.1_3'UTR	p.A1119T	NM_001357.4	NP_001348.2	WXS	Illumina GAIIx	Phase_I	Q08211	DHX9_HUMAN			27	3465	+			1119					B2RNV4|Q05CI5|Q12803|Q32Q22|Q5VY62|Q6PD69|Q99556	Missense_Mutation	SNP	ENST00000367549.3	37	c.3355G>A	CCDS41444.1	.	.	.	.	.	.	.	.	.	.	G	14.27	2.485318	0.44147	.	.	ENSG00000135829	ENST00000367549	D	0.82344	-1.6	5.58	-2.64	0.06114	.	0.832774	0.10610	N	0.654529	T	0.65688	0.2715	N	0.14661	0.345	0.09310	N	1	B;B	0.10296	0.003;0.002	B;B	0.14023	0.01;0.004	T	0.47674	-0.9099	10	0.24483	T	0.36	.	9.3169	0.37939	0.1158:0.0:0.7724:0.1118	.	398;1119	B3KU66;Q08211	.;DHX9_HUMAN	T	1119	ENSP00000356520:A1119T	ENSP00000356520:A1119T	A	+	1	0	DHX9	181120465	0.558000	0.26554	0.000000	0.03702	0.958000	0.62258	2.183000	0.42565	-0.751000	0.04734	-0.890000	0.02929	GCT		0.473	DHX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085522.2	NM_030588		4	106	0	0	0	1	0	4	106				
LRRC37A11P	342666	broad.mit.edu	37	17	37188240	37188240	+	RNA	SNP	C	C	T	rs34700711	byFrequency	TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr17:37188240C>T	ENST00000425901.2	+	0	2082					NR_033753.2				leucine rich repeat containing 37, member A11, pseudogene																		ACAGTTCAACCTCTGGACCTG	0.512													C|||	1269	0.253395	0.0212	0.438	5008	,	,		22408	0.3294		0.2932	False		,,,				2504	0.317					ENST00000425901.2																			0																																																			342666							g.chr17:37188240C>T			17q12	2013-05-14			ENSG00000214553	ENSG00000214553			43815	pseudogene	pseudogene							Standard	NR_033753		Approved		uc002hrd.1		OTTHUMG00000133184		17.37:g.37188240C>T			Somatic						NR_033753.2		WXS	Illumina GAIIx	Phase_I					0	2082	+									RNA	SNP	ENST00000425901.2	37																																																																																						0.512	LRRC37A11P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000444105.1	NR_033753		4	113	0	0	0	1	0	4	113				
ENAM	10117	broad.mit.edu	37	4	71498410	71498410	+	Splice_Site	SNP	G	G	A			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr4:71498410G>A	ENST00000396073.3	+	5	491		c.e5+1			NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin						amelogenesis (GO:0097186)|biomineral tissue development (GO:0031214)	proteinaceous extracellular matrix (GO:0005578)				haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			CGGCCCACATGTAAGTTTTTC	0.318																																						ENST00000396073.3																			0				haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6						c.e5+1		enamelin							318.0	337.0	330.0					4																	71498410		2203	4295	6498	SO:0001630	splice_region_variant	10117				bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel	g.chr4:71498410G>A	AF125373	CCDS3544.2	4q13.3	2008-02-05			ENSG00000132464	ENSG00000132464			3344	protein-coding gene	gene with protein product		606585	"""amelogenesis imperfecta 2, hypocalcification (autosomal dominant)"""	AIH2		11978766	Standard	NM_031889		Approved		uc011caw.1	Q9NRM1	OTTHUMG00000129914	ENST00000396073.3:c.210+1G>A	4.37:g.71498410G>A			Somatic						NM_031889.2	NP_114095.2	WXS	Illumina GAIIx	Phase_I	Q9NRM1	ENAM_HUMAN	Lung(101;0.235)		5	491	+								Q17RI5|Q9H3D1	Splice_Site	SNP	ENST00000396073.3	37		CCDS3544.2	.	.	.	.	.	.	.	.	.	.	G	10.60	1.396539	0.25205	.	.	ENSG00000132464	ENST00000396073	.	.	.	6.07	5.23	0.72850	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.4456	0.50120	0.0824:0.0:0.9176:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ENAM	71717274	1.000000	0.71417	0.999000	0.59377	0.182000	0.23217	2.362000	0.44169	1.585000	0.49928	0.585000	0.79938	.		0.318	ENAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252166.3	NM_031889	Intron	5	444	0	0	0	1	0	5	444				
ATP9A	10079	broad.mit.edu	37	20	50226667	50226667	+	Missense_Mutation	SNP	G	G	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr20:50226667G>C	ENST00000338821.5	-	24	2873	c.2609C>G	c.(2608-2610)cCt>cGt	p.P870R	ATP9A_ENST00000402822.1_Missense_Mutation_p.P749R|ATP9A_ENST00000311637.5_Missense_Mutation_p.P734R	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	870					phospholipid translocation (GO:0045332)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						TTGATAGAGAGGGACGGAGGC	0.423																																						ENST00000338821.5																			0				breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						c.(2608-2610)cCt>cGt		ATPase, class II, type 9A							127.0	113.0	117.0					20																	50226667		2203	4300	6503	SO:0001583	missense	10079				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr20:50226667G>C	AB014511	CCDS33489.1	20q13.2	2010-04-20	2007-09-19		ENSG00000054793	ENSG00000054793		"""ATPases / P-type"""	13540	protein-coding gene	gene with protein product		609126	"""ATPase, Class II, type 9A"""			9734811, 11015572	Standard	NM_006045		Approved	KIAA0611, ATPIIA	uc002xwg.1	O75110	OTTHUMG00000032751	ENST00000338821.5:c.2609C>G	20.37:g.50226667G>C	ENSP00000342481:p.Pro870Arg		Somatic				ATP9A_ENST00000311637.5_Missense_Mutation_p.P734R|ATP9A_ENST00000402822.1_Missense_Mutation_p.P749R	p.P870R	NM_006045.1	NP_006036.1	WXS	Illumina GAIIx	Phase_I	O75110	ATP9A_HUMAN			24	2873	-			870					E1P5Y3|E1P5Y4|Q5TFW5|Q5TFW6|Q5TFW9|Q6ZMF3|Q9NQK6|Q9NQK7	Missense_Mutation	SNP	ENST00000338821.5	37	c.2609C>G	CCDS33489.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.300594	0.81136	.	.	ENSG00000054793	ENST00000311637;ENST00000338821;ENST00000402822	T;T;T	0.70399	-0.48;-0.48;-0.48	4.88	4.88	0.63580	.	0.052502	0.85682	D	0.000000	T	0.72120	0.3421	L	0.53561	1.675	0.80722	D	1	P;P	0.36465	0.527;0.554	B;B	0.41088	0.25;0.347	T	0.75536	-0.3283	10	0.62326	D	0.03	-18.791	18.3951	0.90495	0.0:0.0:1.0:0.0	.	749;870	O75110-2;O75110	.;ATP9A_HUMAN	R	734;870;749	ENSP00000309086:P734R;ENSP00000342481:P870R;ENSP00000385875:P749R	ENSP00000309086:P734R	P	-	2	0	ATP9A	49660074	1.000000	0.71417	0.682000	0.30024	0.997000	0.91878	9.307000	0.96226	2.414000	0.81942	0.655000	0.94253	CCT		0.423	ATP9A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106494.1	NM_006045		5	132	0	0	0	1	0	5	132				
PBX1	5087	broad.mit.edu	37	1	164776859	164776859	+	Missense_Mutation	SNP	C	C	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr1:164776859C>T	ENST00000420696.2	+	5	970	c.782C>T	c.(781-783)cCc>cTc	p.P261L	PBX1_ENST00000401534.1_Missense_Mutation_p.P261L|PBX1_ENST00000560641.1_Missense_Mutation_p.P156L|PBX1_ENST00000540246.1_Missense_Mutation_p.P156L|PBX1_ENST00000540236.1_Missense_Mutation_p.P261L|PBX1_ENST00000559240.1_Missense_Mutation_p.P261L|PBX1_ENST00000367897.1_Missense_Mutation_p.P261L	NM_001204961.1|NM_001204963.1|NM_002585.3	NP_001191890.1|NP_001191892.1|NP_002576.1	P40424	PBX1_HUMAN	pre-B-cell leukemia homeobox 1	261					adrenal gland development (GO:0030325)|anterior/posterior pattern specification (GO:0009952)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic hemopoiesis (GO:0035162)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system development (GO:0048706)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|organ morphogenesis (GO:0009887)|positive regulation of cell proliferation (GO:0008284)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|proximal/distal pattern formation (GO:0009954)|regulation of ossification (GO:0030278)|sex differentiation (GO:0007548)|spleen development (GO:0048536)|steroid biosynthetic process (GO:0006694)|thymus development (GO:0048538)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)		EWSR1/PBX1(3)	large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	4						AACCCTTACCCCAGTGAGGAA	0.488			T	"""TCF3, EWSR1"""	"""pre B-ALL, myoepithelioma"""																																	ENST00000420696.2				Dom	yes		1	1q23	5087	T	pre-B-cell leukemia transcription factor 1			"""L, M"""	"""TCF3, EWSR1"""		"""pre B-ALL, myoepithelioma"""	EWSR1/PBX1(3)	0				large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	4						c.(781-783)cCc>cTc		pre-B-cell leukemia homeobox 1							140.0	149.0	146.0					1																	164776859		2203	4300	6503	SO:0001583	missense	5087				negative regulation of sequence-specific DNA binding transcription factor activity|sex differentiation|steroid biosynthetic process	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr1:164776859C>T	M86546	CCDS1246.1, CCDS55654.1	1q23.3	2011-06-20	2007-01-30		ENSG00000185630	ENSG00000185630		"""Homeoboxes / TALE class"""	8632	protein-coding gene	gene with protein product		176310	"""pre-B-cell leukemia transcription factor 1"""				Standard	NM_002585		Approved		uc001gct.3	P40424	OTTHUMG00000034307	ENST00000420696.2:c.782C>T	1.37:g.164776859C>T	ENSP00000405890:p.Pro261Leu		Somatic				PBX1_ENST00000540236.1_Missense_Mutation_p.P261L|PBX1_ENST00000401534.1_Missense_Mutation_p.P261L|PBX1_ENST00000560641.1_Missense_Mutation_p.P156L|PBX1_ENST00000367897.1_Missense_Mutation_p.P261L|PBX1_ENST00000559240.1_Missense_Mutation_p.P261L|PBX1_ENST00000540246.1_Missense_Mutation_p.P156L	p.P261L	NM_001204961.1|NM_001204963.1|NM_002585.3	NP_001191890.1|NP_001191892.1|NP_002576.1	WXS	Illumina GAIIx	Phase_I	P40424	PBX1_HUMAN			5	970	+			261					B4DSC1|F5H4U9|Q5T488	Missense_Mutation	SNP	ENST00000420696.2	37	c.782C>T	CCDS1246.1	.	.	.	.	.	.	.	.	.	.	C	33	5.283109	0.95489	.	.	ENSG00000185630	ENST00000420696;ENST00000367897;ENST00000540236;ENST00000401534;ENST00000540246	D;D;D;D;D	0.97598	-4.45;-4.45;-4.45;-4.45;-4.45	5.6	5.6	0.85130	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.97639	0.9226	L	0.47016	1.485	.	.	.	D;D;D;D;D	0.89917	1.0;0.998;0.997;0.998;0.999	D;D;D;D;D	0.87578	0.996;0.991;0.989;0.991;0.998	D	0.98737	1.0715	9	0.87932	D	0	-14.0264	19.2212	0.93797	0.0:1.0:0.0:0.0	.	156;261;261;261;261	B7Z774;A8K5V0;F5H4U9;P40424;Q53YC7	.;.;.;PBX1_HUMAN;.	L	261;261;261;261;156	ENSP00000405890:P261L;ENSP00000356872:P261L;ENSP00000439943:P261L;ENSP00000384856:P261L;ENSP00000440869:P156L	ENSP00000356872:P261L	P	+	2	0	PBX1	163043483	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.376000	0.79658	2.615000	0.88500	0.650000	0.86243	CCC		0.488	PBX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082864.4	NM_002585		4	172	0	0	0	1	0	4	172				
USP54	159195	broad.mit.edu	37	10	75301423	75301423	+	Missense_Mutation	SNP	C	C	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr10:75301423C>T	ENST00000339859.4	-	7	746	c.646G>A	c.(646-648)Gcc>Acc	p.A216T	USP54_ENST00000394811.2_5'UTR|USP54_ENST00000428547.1_Intron|USP54_ENST00000497106.1_5'UTR|USP54_ENST00000408019.1_Missense_Mutation_p.A216T|USP54_ENST00000319786.7_Missense_Mutation_p.A216T			Q70EL1	UBP54_HUMAN	ubiquitin specific peptidase 54	216	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitinyl hydrolase activity (GO:0036459)			breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	30	Prostate(51;0.0112)					ATGGTGCTGGCATTCTGCAGC	0.498																																					Colon(195;880 2046 8854 25025 38456)	ENST00000339859.4																			0				breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	30						c.(646-648)Gcc>Acc		ubiquitin specific peptidase 54							89.0	85.0	86.0					10																	75301423		1909	4144	6053	SO:0001583	missense	159195				ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity	g.chr10:75301423C>T	AJ583820	CCDS7329.2	10q22.3	2006-09-26	2005-08-08	2004-01-30	ENSG00000166348	ENSG00000166348		"""Ubiquitin-specific peptidases"""	23513	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 29"", ""ubiquitin specific protease 54"""	C10orf29		14715245	Standard	NM_152586		Approved	FLJ37318, bA137L10.3, bA137L10.4	uc001juo.3	Q70EL1	OTTHUMG00000018469	ENST00000339859.4:c.646G>A	10.37:g.75301423C>T	ENSP00000345216:p.Ala216Thr		Somatic				USP54_ENST00000428547.1_Intron|USP54_ENST00000408019.1_Missense_Mutation_p.A216T|USP54_ENST00000497106.1_5'UTR|USP54_ENST00000394811.2_5'UTR|USP54_ENST00000319786.7_Missense_Mutation_p.A216T	p.A216T			WXS	Illumina GAIIx	Phase_I	Q70EL1	UBP54_HUMAN			7	746	-	Prostate(51;0.0112)		216					A1L4Q4|A3KFK3|A3KFK5|A3KFK6|A3KFK7|A6PVS4|A6PVS5|A6PVS6|A6PVS7|B3KVY1|B9ZVM1|Q5F2F4|Q6P1N6|Q6ZSP1|Q6ZSR1|Q6ZTM0|Q8N1X2	Missense_Mutation	SNP	ENST00000339859.4	37	c.646G>A	CCDS7329.2	.	.	.	.	.	.	.	.	.	.	C	36	5.724699	0.96847	.	.	ENSG00000166348	ENST00000339859;ENST00000408019;ENST00000319786	T;T;T	0.05580	3.42;3.42;3.42	5.66	5.66	0.87406	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.64402	U	0.000001	T	0.26521	0.0648	M	0.73217	2.22	0.80722	D	1	D;D;D;D	0.89917	1.0;0.998;0.98;1.0	D;D;P;D	0.91635	0.999;0.995;0.766;0.999	T	0.00059	-1.2167	10	0.38643	T	0.18	-6.3878	20.1253	0.97977	0.0:1.0:0.0:0.0	.	216;216;216;216	B7Z7X1;Q70EL1-4;Q70EL1-6;Q70EL1	.;.;.;UBP54_HUMAN	T	216	ENSP00000345216:A216T;ENSP00000386080:A216T;ENSP00000326547:A216T	ENSP00000326547:A216T	A	-	1	0	USP54	74971429	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.391000	0.79828	2.832000	0.97577	0.655000	0.94253	GCC		0.498	USP54-014	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316563.2	NM_152586		32	106	0	0	0	1	0	32	106				
ZNF749	388567	broad.mit.edu	37	19	57956010	57956010	+	Silent	SNP	G	G	A			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr19:57956010G>A	ENST00000334181.4	+	3	1744	c.1494G>A	c.(1492-1494)ctG>ctA	p.L498L	AC004076.9_ENST00000596831.1_Intron	NM_001023561.2	NP_001018855.2	O43361	ZN749_HUMAN	zinc finger protein 749	498					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1)	13		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177)		AGGCTCATCTGGTTGGTCACC	0.458																																						ENST00000334181.4																			0				breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1)	13						c.(1492-1494)ctG>ctA		zinc finger protein 749							72.0	70.0	71.0					19																	57956010		2203	4300	6503	SO:0001819	synonymous_variant	388567				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57956010G>A	AK122740	CCDS33132.2	19q13.43	2013-01-08			ENSG00000186230	ENSG00000186230		"""Zinc fingers, C2H2-type"", ""-"""	32783	protein-coding gene	gene with protein product							Standard	NM_001023561		Approved	FLJ16360	uc002qoq.2	O43361	OTTHUMG00000150372	ENST00000334181.4:c.1494G>A	19.37:g.57956010G>A			Somatic				AC004076.9_ENST00000596831.1_Intron	p.L498L	NM_001023561.2	NP_001018855.2	WXS	Illumina GAIIx	Phase_I	O43361	ZN749_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177)	3	1744	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	498						Silent	SNP	ENST00000334181.4	37	c.1494G>A	CCDS33132.2																																																																																				0.458	ZNF749-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317879.1	NM_001023561		4	225	0	0	0	1	0	4	225				
BCRP7	100133163	broad.mit.edu	37	22	18845995	18845995	+	3'UTR	SNP	T	T	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr22:18845995T>C	ENST00000412938.1	+	0	3353																											CATCCCGTCCTGCGCAGGCCG	0.592																																						ENST00000412938.1																			0																																																	SO:0001624	3_prime_UTR_variant	100133163							g.chr22:18845995T>C																												ENST00000412938.1:c.*3350T>C	22.37:g.18845995T>C			Somatic								WXS	Illumina GAIIx	Phase_I					0	3353	+									RNA	SNP	ENST00000412938.1	37																																																																																						0.592	AC008132.13-002	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000471615.1			3	50	0	0	0	1	0	3	50				
ZNF155	7711	broad.mit.edu	37	19	44501183	44501183	+	Nonsense_Mutation	SNP	C	C	T	rs374103288		TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr19:44501183C>T	ENST00000270014.2	+	5	1302	c.1174C>T	c.(1174-1176)Cga>Tga	p.R392*	ZNF155_ENST00000407951.2_Nonsense_Mutation_p.R403*|RP11-15A1.7_ENST00000589021.1_RNA|ZNF155_ENST00000590615.1_Nonsense_Mutation_p.R392*|RP11-15A1.7_ENST00000586860.1_RNA	NM_001260487.1|NM_198089.2	NP_001247416|NP_932355	Q12901	ZN155_HUMAN	zinc finger protein 155	392					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	15		Prostate(69;0.0352)				GAACCATCAGCGAGTCCACAG	0.408													C|||	1	0.000199681	0.0	0.0	5008	,	,		21805	0.001		0.0	False		,,,				2504	0.0				NSCLC(61;554 1277 20909 42067 42312)	ENST00000270014.2																			0				endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	15						c.(1174-1176)Cga>Tga		zinc finger protein 155		C	stop/ARG,stop/ARG	0,4406		0,0,2203	96.0	99.0	98.0		1174,1174	-4.8	0.0	19		98	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained,stop-gained	ZNF155	NM_003445.2,NM_198089.1	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	392/539,392/539	44501183	1,13005	2203	4300	6503	SO:0001587	stop_gained	7711					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:44501183C>T	U09852	CCDS12634.1, CCDS58668.1	19q13.2-q13.32	2013-01-08	2006-08-22			ENSG00000204920		"""Zinc fingers, C2H2-type"", ""-"""	12940	protein-coding gene	gene with protein product		604086	"""zinc finger protein 155 (pHZ-96)"""			7557990	Standard	NM_001260486		Approved	pHZ-96	uc010xwt.2	Q12901		ENST00000270014.2:c.1174C>T	19.37:g.44501183C>T	ENSP00000270014:p.Arg392*		Somatic				ZNF155_ENST00000590615.1_Nonsense_Mutation_p.R392*|RP11-15A1.7_ENST00000589021.1_RNA|RP11-15A1.7_ENST00000586860.1_RNA|ZNF155_ENST00000407951.2_Nonsense_Mutation_p.R403*	p.R392*	NM_001260487.1|NM_198089.2	NP_001247416.1|NP_932355.2	WXS	Illumina GAIIx	Phase_I	Q12901	ZN155_HUMAN			5	1302	+		Prostate(69;0.0352)	392					A2BDE6|B2RB63|B4DM95|J3KQ08|Q6AZZ8|Q9UIE1|Q9UK14	Nonsense_Mutation	SNP	ENST00000270014.2	37	c.1174C>T	CCDS12634.1	.	.	.	.	.	.	.	.	.	.	C	19.10	3.761018	0.69763	0.0	1.16E-4	ENSG00000204920	ENST00000407951;ENST00000270014	.	.	.	2.37	-4.75	0.03239	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.3855	0.21558	0.4661:0.4322:0.1018:0.0	.	.	.	.	X	403;392	.	ENSP00000270014:R392X	R	+	1	2	ZNF155	49193023	0.000000	0.05858	0.000000	0.03702	0.207000	0.24258	-2.690000	0.00831	-1.801000	0.01245	-0.475000	0.04921	CGA		0.408	ZNF155-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000460074.1	NM_003445		4	315	0	0	0	1	0	4	315				
DSCAML1	57453	broad.mit.edu	37	11	117392010	117392010	+	Missense_Mutation	SNP	G	G	A			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr11:117392010G>A	ENST00000321322.6	-	6	1229	c.1228C>T	c.(1228-1230)Cgc>Tgc	p.R410C	DSCAML1_ENST00000527706.1_Missense_Mutation_p.R140C	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	350	Ig-like C2-type 5.				axonogenesis (GO:0007409)|brain development (GO:0007420)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|dendrite self-avoidance (GO:0070593)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|homophilic cell adhesion (GO:0007156)|negative regulation of cell adhesion (GO:0007162)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		TCCGTGTTGCGATACCAGCGG	0.627																																						ENST00000321322.6																			0				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110						c.(1228-1230)Cgc>Tgc		Down syndrome cell adhesion molecule like 1							90.0	76.0	81.0					11																	117392010		2201	4296	6497	SO:0001583	missense	57453				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity	g.chr11:117392010G>A		CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	14656	protein-coding gene	gene with protein product		611782				11453658	Standard	NM_020693		Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.1228C>T	11.37:g.117392010G>A	ENSP00000315465:p.Arg410Cys		Somatic				DSCAML1_ENST00000527706.1_Missense_Mutation_p.R140C	p.R410C	NM_020693.2	NP_065744.2	WXS	Illumina GAIIx	Phase_I	Q8TD84	DSCL1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)	6	1229	-	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)	350			Ig-like C2-type 5.		Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Missense_Mutation	SNP	ENST00000321322.6	37	c.1228C>T	CCDS8384.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.237731	0.79800	.	.	ENSG00000177103	ENST00000527706;ENST00000321322;ENST00000446508	T;T	0.34667	1.35;1.35	4.67	4.67	0.58626	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.71787	0.3381	H	0.95079	3.62	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.988;0.994	T	0.82180	-0.0585	9	0.87932	D	0	.	17.7518	0.88436	0.0:0.0:1.0:0.0	.	140;350	G3V1B5;Q8TD84	.;DSCL1_HUMAN	C	140;410;117	ENSP00000434335:R140C;ENSP00000315465:R410C	ENSP00000315465:R410C	R	-	1	0	DSCAML1	116897220	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.371000	0.66150	2.417000	0.82017	0.609000	0.83330	CGC		0.627	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392907.2	NM_020693		18	85	0	0	0	1	0	18	85				
CCNL2	81669	broad.mit.edu	37	1	1333710	1333710	+	Missense_Mutation	SNP	C	C	G			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr1:1333710C>G	ENST00000400809.3	-	3	381	c.376G>C	c.(376-378)Gcc>Ccc	p.A126P	CCNL2_ENST00000408952.5_5'Flank|RP4-758J18.2_ENST00000444362.1_5'Flank|RP4-758J18.2_ENST00000576232.1_5'Flank|CCNL2_ENST00000408918.4_Missense_Mutation_p.A126P|RP4-758J18.2_ENST00000448629.2_5'Flank	NM_030937.4	NP_112199.2	Q96S94	CCNL2_HUMAN	cyclin L2	126	Cyclin-like 1.				regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.03e-36)|OV - Ovarian serous cystadenocarcinoma(86;4.17e-22)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.0023)|BRCA - Breast invasive adenocarcinoma(365;0.00465)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.146)		TGGACACAGGCCATTGACACA	0.557																																						ENST00000400809.3																			0				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(2)	13						c.(376-378)Gcc>Ccc		cyclin L2							164.0	142.0	150.0					1																	1333710		2203	4300	6503	SO:0001583	missense	81669				regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nuclear speck	protein kinase binding	g.chr1:1333710C>G	AF251294	CCDS30557.1, CCDS30558.1	1p36.33	2014-07-03			ENSG00000221978	ENSG00000221978			20570	protein-coding gene	gene with protein product	"""cyclin S"""	613482	"""cyclin M"""	CCNM		14725631	Standard	NM_030937		Approved	ania-6b, PCEE, SB138, HLA-ISO, CCNS	uc001afi.2	Q96S94	OTTHUMG00000002917	ENST00000400809.3:c.376G>C	1.37:g.1333710C>G	ENSP00000383611:p.Ala126Pro		Somatic				CCNL2_ENST00000408918.4_Missense_Mutation_p.A126P	p.A126P	NM_030937.4	NP_112199.2	WXS	Illumina GAIIx	Phase_I	Q96S94	CCNL2_HUMAN		Epithelial(90;2.03e-36)|OV - Ovarian serous cystadenocarcinoma(86;4.17e-22)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.0023)|BRCA - Breast invasive adenocarcinoma(365;0.00465)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.146)	3	381	-	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	126			Cyclin-like 1.		A8K8A3|B1B152|Q5T2N5|Q5T2N6|Q6IQ12|Q7Z4Z8|Q8N3C9|Q8N3D5|Q8NHE3|Q8TEL0|Q96B00	Missense_Mutation	SNP	ENST00000400809.3	37	c.376G>C	CCDS30557.1	.	.	.	.	.	.	.	.	.	.	C	35	5.473641	0.96291	.	.	ENSG00000221978	ENST00000400809;ENST00000408918	T;T	0.61510	0.1;0.1	4.73	4.73	0.59995	Cyclin, N-terminal (1);Cyclin-like (3);	0.000000	0.64402	D	0.000003	D	0.82944	0.5147	H	0.95780	3.72	0.80722	D	1	D;D;D	0.71674	0.996;0.998;0.997	D;D;D	0.76575	0.988;0.958;0.972	D	0.88493	0.3077	9	.	.	.	.	16.8505	0.85992	0.0:1.0:0.0:0.0	.	126;126;126	F2Z3J5;Q96S94;Q96S94-2	.;CCNL2_HUMAN;.	P	126	ENSP00000383611:A126P;ENSP00000386158:A126P	.	A	-	1	0	CCNL2	1323573	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	7.246000	0.78247	2.457000	0.83068	0.655000	0.94253	GCC		0.557	CCNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008146.2	NM_030937		3	53	0	0	0	1	0	3	53				
ZNF749	388567	broad.mit.edu	37	19	57956012	57956012	+	Missense_Mutation	SNP	T	T	A			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr19:57956012T>A	ENST00000334181.4	+	3	1746	c.1496T>A	c.(1495-1497)gTt>gAt	p.V499D	AC004076.9_ENST00000596831.1_Intron	NM_001023561.2	NP_001018855.2	O43361	ZN749_HUMAN	zinc finger protein 749	499					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1)	13		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177)		GCTCATCTGGTTGGTCACCAG	0.458																																						ENST00000334181.4																			0				breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1)	13						c.(1495-1497)gTt>gAt		zinc finger protein 749							72.0	70.0	71.0					19																	57956012		2203	4300	6503	SO:0001583	missense	388567				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57956012T>A	AK122740	CCDS33132.2	19q13.43	2013-01-08			ENSG00000186230	ENSG00000186230		"""Zinc fingers, C2H2-type"", ""-"""	32783	protein-coding gene	gene with protein product							Standard	NM_001023561		Approved	FLJ16360	uc002qoq.2	O43361	OTTHUMG00000150372	ENST00000334181.4:c.1496T>A	19.37:g.57956012T>A	ENSP00000333980:p.Val499Asp		Somatic				AC004076.9_ENST00000596831.1_Intron	p.V499D	NM_001023561.2	NP_001018855.2	WXS	Illumina GAIIx	Phase_I	O43361	ZN749_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177)	3	1746	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	499						Missense_Mutation	SNP	ENST00000334181.4	37	c.1496T>A	CCDS33132.2	.	.	.	.	.	.	.	.	.	.	T	5.848	0.340600	0.11069	.	.	ENSG00000186230	ENST00000334181	T	0.07021	3.23	1.66	-0.742	0.11108	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04724	0.0128	N	0.17901	0.54	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.40156	-0.9578	9	0.44086	T	0.13	.	3.4417	0.07466	0.3857:0.0:0.1965:0.4177	.	499	O43361	ZN749_HUMAN	D	499	ENSP00000333980:V499D	ENSP00000333980:V499D	V	+	2	0	ZNF749	62647824	0.000000	0.05858	0.000000	0.03702	0.267000	0.26476	-0.570000	0.05895	-0.292000	0.08999	-0.769000	0.03391	GTT		0.458	ZNF749-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317879.1	NM_001023561		4	222	0	0	0	1	0	4	222				
FAM171A1	221061	broad.mit.edu	37	10	15255477	15255477	+	Missense_Mutation	SNP	G	G	A			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr10:15255477G>A	ENST00000378116.4	-	8	2116	c.2110C>T	c.(2110-2112)Cac>Tac	p.H704Y	FAM171A1_ENST00000477161.1_5'Flank	NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	704						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						GCCCGGGGGTGCGGAAGCGGC	0.562																																						ENST00000378116.4																			0				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						c.(2110-2112)Cac>Tac		family with sequence similarity 171, member A1							56.0	62.0	60.0					10																	15255477		2203	4300	6503	SO:0001583	missense	221061					integral to membrane		g.chr10:15255477G>A	AK022946	CCDS31154.1	10p13	2008-06-16	2008-06-16	2008-06-16	ENSG00000148468	ENSG00000148468			23522	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 38"""	C10orf38			Standard	NM_001010924		Approved	FLJ12884	uc001iob.3	Q5VUB5	OTTHUMG00000017732	ENST00000378116.4:c.2110C>T	10.37:g.15255477G>A	ENSP00000367356:p.His704Tyr		Somatic					p.H704Y	NM_001010924.1	NP_001010924.1	WXS	Illumina GAIIx	Phase_I	Q5VUB5	F1711_HUMAN			8	2116	-			704					D3DRT9|Q32M49|Q8N4I0	Missense_Mutation	SNP	ENST00000378116.4	37	c.2110C>T	CCDS31154.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.216424	0.79352	.	.	ENSG00000148468	ENST00000378116;ENST00000396781	T	0.56941	0.43	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.75459	0.3852	M	0.80982	2.52	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.78478	-0.2188	10	0.87932	D	0	-31.6204	19.0487	0.93032	0.0:0.0:1.0:0.0	.	704	Q5VUB5	F1711_HUMAN	Y	704;703	ENSP00000367356:H704Y	ENSP00000367356:H704Y	H	-	1	0	FAM171A1	15295483	1.000000	0.71417	0.932000	0.37286	0.906000	0.53458	9.657000	0.98554	2.724000	0.93272	0.563000	0.77884	CAC		0.562	FAM171A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046984.1	XM_167709		26	89	0	0	0	1	0	26	89				
MMP3	4314	broad.mit.edu	37	11	102712941	102712941	+	Missense_Mutation	SNP	C	C	A			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr11:102712941C>A	ENST00000299855.5	-	4	825	c.569G>T	c.(568-570)gGg>gTg	p.G190V		NM_002422.3	NP_002413.1	P08254	MMP3_HUMAN	matrix metallopeptidase 3 (stromelysin 1, progelatinase)	190					cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of hydrogen peroxide metabolic process (GO:0010727)|positive regulation of oxidative stress-induced cell death (GO:1903209)|proteolysis (GO:0006508)|regulation of cell migration (GO:0030334)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0142)	Marimastat(DB00786)	TCCATTAATCCCTGGCCCAGG	0.383																																						ENST00000299855.5																			0				endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22						c.(568-570)gGg>gTg		matrix metallopeptidase 3 (stromelysin 1, progelatinase)	Marimastat(DB00786)|Simvastatin(DB00641)						121.0	115.0	117.0					11																	102712941		2203	4299	6502	SO:0001583	missense	4314				collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr11:102712941C>A	X05232	CCDS8323.1	11q22.3	2012-10-02	2005-08-08		ENSG00000149968	ENSG00000149968	3.4.24.17		7173	protein-coding gene	gene with protein product		185250	"""matrix metalloproteinase 3 (stromelysin 1, progelatinase)"""	STMY1, STMY			Standard	NM_002422		Approved		uc001phj.1	P08254	OTTHUMG00000048254	ENST00000299855.5:c.569G>T	11.37:g.102712941C>A	ENSP00000299855:p.Gly190Val		Somatic					p.G190V	NM_002422.3	NP_002413.1	WXS	Illumina GAIIx	Phase_I	P08254	MMP3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.0142)	4	825	-		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	190					B2R8B8|Q3B7S0|Q6GRF8	Missense_Mutation	SNP	ENST00000299855.5	37	c.569G>T	CCDS8323.1	.	.	.	.	.	.	.	.	.	.	C	18.26	3.584463	0.65992	.	.	ENSG00000149968	ENST00000299855	T	0.18502	2.21	5.34	4.42	0.53409	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.417097	0.17670	N	0.166010	T	0.50990	0.1648	H	0.96943	3.91	0.80722	D	1	D	0.76494	0.999	D	0.70227	0.968	T	0.59762	-0.7393	10	0.87932	D	0	.	7.5882	0.28006	0.0:0.7154:0.1545:0.13	.	190	P08254	MMP3_HUMAN	V	190	ENSP00000299855:G190V	ENSP00000299855:G190V	G	-	2	0	MMP3	102218151	0.326000	0.24669	0.582000	0.28627	0.820000	0.46376	1.259000	0.32956	2.937000	0.99478	0.650000	0.86243	GGG		0.383	MMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109758.2	NM_002422		3	102	1	0	6.4e-05	1	7.0481e-05	3	102				
FRG1B	284802	broad.mit.edu	37	20	29628243	29628243	+	Missense_Mutation	SNP	T	T	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr20:29628243T>C	ENST00000278882.3	+	6	625	c.245T>C	c.(244-246)tTg>tCg	p.L82S	FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S|FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	82								p.L82S(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGGCTTTGTTGGCCTCAAAT	0.363																																						ENST00000278882.3																			2	Substitution - Missense(2)	p.L82S(2)	urinary_tract(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(244-246)tTg>tCg																																						SO:0001583	missense	284802							g.chr20:29628243T>C			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.245T>C	20.37:g.29628243T>C	ENSP00000278882:p.Leu82Ser		Somatic				FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S|FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S	p.L82S			WXS	Illumina GAIIx	Phase_I					6	625	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.245T>C		.	.	.	.	.	.	.	.	.	.	t	12.14	1.848999	0.32699	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.49139	0.79	2.08	2.08	0.27032	Actin cross-linking (1);	0.147685	0.45361	D	0.000380	T	0.38665	0.1049	.	.	.	0.46185	D	0.99891	B;B	0.27656	0.03;0.184	B;B	0.35813	0.11;0.211	T	0.24548	-1.0157	9	0.38643	T	0.18	.	8.0833	0.30758	0.0:0.0:0.0:1.0	.	87;82	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	S	82;87;82	ENSP00000408863:L87S	ENSP00000278882:L82S	L	+	2	0	FRG1B	28241904	1.000000	0.71417	0.998000	0.56505	0.541000	0.35023	6.955000	0.76007	1.208000	0.43306	0.347000	0.21830	TTG		0.363	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		5	282	0	0	0	1	0	5	282				
LRP1B	53353	broad.mit.edu	37	2	141571365	141571365	+	Missense_Mutation	SNP	T	T	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr2:141571365T>C	ENST00000389484.3	-	32	6191	c.5220A>G	c.(5218-5220)atA>atG	p.I1740M		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1740					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CCACATAGTCTATCGATAGAC	0.343										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3																			0				NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606						c.(5218-5220)atA>atG		low density lipoprotein receptor-related protein 1B							113.0	102.0	106.0					2																	141571365		2201	4300	6501	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141571365T>C	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.5220A>G	2.37:g.141571365T>C	ENSP00000374135:p.Ile1740Met	TSP Lung(27;0.18)	Somatic					p.I1740M	NM_018557.2	NP_061027.2	WXS	Illumina GAIIx	Phase_I	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	32	6191	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	1740					Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.5220A>G	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	T	13.22	2.172403	0.38315	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.91996	-2.95	5.71	5.71	0.89125	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	D	0.95749	0.8617	M	0.79258	2.445	0.42780	D	0.993862	D	0.76494	0.999	D	0.80764	0.994	D	0.95469	0.8550	10	0.41790	T	0.15	.	15.9781	0.80086	0.0:0.0:0.0:1.0	.	1740	Q9NZR2	LRP1B_HUMAN	M	1740;1678	ENSP00000374135:I1740M	ENSP00000374135:I1740M	I	-	3	3	LRP1B	141287835	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	0.546000	0.23284	2.171000	0.68590	0.533000	0.62120	ATA		0.343	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		3	79	0	0	0	1	0	3	79				
FAM134A	79137	broad.mit.edu	37	2	220045807	220045807	+	Silent	SNP	C	C	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr2:220045807C>T	ENST00000430297.2	+	6	800	c.664C>T	c.(664-666)Ctg>Ttg	p.L222L	CNPPD1_ENST00000409789.1_5'Flank	NM_024293.4	NP_077269.3	Q8NC44	F134A_HUMAN	family with sequence similarity 134, member A	222						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)	19		Renal(207;0.0915)		Epithelial(149;8.92e-07)|all cancers(144;0.000151)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCTGTGGCCCCTGGTGGTTTA	0.527																																						ENST00000430297.2																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)	19						c.(664-666)Ctg>Ttg		family with sequence similarity 134, member A							133.0	128.0	130.0					2																	220045807		2203	4300	6503	SO:0001819	synonymous_variant	79137					endoplasmic reticulum|integral to membrane		g.chr2:220045807C>T	AK074983	CCDS2434.1	2q36.1	2008-02-05	2007-05-01	2007-05-01	ENSG00000144567	ENSG00000144567			28450	protein-coding gene	gene with protein product			"""chromosome 2 open reading frame 17"""	C2orf17			Standard	NM_024293		Approved	MGC3035	uc002vjw.4	Q8NC44	OTTHUMG00000154577	ENST00000430297.2:c.664C>T	2.37:g.220045807C>T			Somatic					p.L222L	NM_024293.4	NP_077269.3	WXS	Illumina GAIIx	Phase_I	Q8NC44	F134A_HUMAN		Epithelial(149;8.92e-07)|all cancers(144;0.000151)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	6	800	+		Renal(207;0.0915)	222					Q6P1P5|Q9H0K7	Silent	SNP	ENST00000430297.2	37	c.664C>T	CCDS2434.1																																																																																				0.527	FAM134A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336147.2	NM_024293		6	99	0	0	0	1	0	6	99				
WDFY3	23001	broad.mit.edu	37	4	85642588	85642588	+	Silent	SNP	G	G	A			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr4:85642588G>A	ENST00000295888.4	-	47	7986	c.7579C>T	c.(7579-7581)Ctg>Ttg	p.L2527L	WDFY3_ENST00000322366.6_Silent_p.L2510L	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	2527	Sufficient for translocalization to p62 bodies/ALIS.				aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		AACAGGCGCAGTAAGGTAGCA	0.428																																						ENST00000322366.6																			0				breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						c.(7528-7530)Ctg>Ttg		WD repeat and FYVE domain containing 3							211.0	196.0	201.0					4																	85642588		2203	4300	6503	SO:0001819	synonymous_variant	23001					cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding	g.chr4:85642588G>A	AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"""Zinc fingers, FYVE domain containing"", ""WD repeat domain containing"""	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.7579C>T	4.37:g.85642588G>A			Somatic				WDFY3_ENST00000295888.4_Silent_p.L2527L	p.L2510L			WXS	Illumina GAIIx	Phase_I	Q8IZQ1	WDFY3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000808)	46	7935	-		Hepatocellular(203;0.114)	2527					Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Silent	SNP	ENST00000295888.4	37	c.7528C>T	CCDS3609.1																																																																																				0.428	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2	NM_014991		4	379	0	0	0	1	0	4	379				
NACA	4666	broad.mit.edu	37	12	57114554	57114554	+	Missense_Mutation	SNP	C	C	A			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr12:57114554C>A	ENST00000454682.1	-	3	1041	c.760G>T	c.(760-762)Gtt>Ttt	p.V254F	NACA_ENST00000546392.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000550952.1_Missense_Mutation_p.V254F|NACA_ENST00000551793.1_Intron	NM_001113203.2	NP_001106674.2	E9PAV3	NACAM_HUMAN	nascent polypeptide-associated complex alpha subunit	254	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						GAAATCAGAACTGAGGAAATG	0.517			T	BCL6	NHL																																	ENST00000454682.1				Dom	yes		12	12q23-q24.1	4666	T	nascent-polypeptide-associated complex alpha polypeptide			L	BCL6		NHL		0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						c.(760-762)Gtt>Ttt		nascent polypeptide-associated complex alpha subunit							195.0	178.0	183.0					12																	57114554		1568	3582	5150	SO:0001583	missense	4666				interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding	g.chr12:57114554C>A	X80909	CCDS31837.1, CCDS44925.1, CCDS44925.2	12q23-q24.1	2008-09-05	2007-04-20		ENSG00000196531	ENSG00000196531			7629	protein-coding gene	gene with protein product		601234	"""nascent-polypeptide-associated complex alpha polypeptide"""			8047162	Standard	NM_001113202		Approved	NACA1	uc001sma.2	E9PAV3		ENST00000454682.1:c.760G>T	12.37:g.57114554C>A	ENSP00000403817:p.Val254Phe		Somatic				NACA_ENST00000550952.1_Missense_Mutation_p.V254F|NACA_ENST00000356769.3_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000552540.1_Intron	p.V254F	NM_001113203.2	NP_001106674.2	WXS	Illumina GAIIx	Phase_I	Q13765	NACA_HUMAN			3	1041	-			0						Missense_Mutation	SNP	ENST00000454682.1	37	c.760G>T		.	.	.	.	.	.	.	.	.	.	C	13.31	2.198676	0.38806	.	.	ENSG00000196531	ENST00000454682;ENST00000550952	T;T	0.31247	1.5;1.5	3.65	1.73	0.24493	.	.	.	.	.	T	0.13841	0.0335	N	0.08118	0	0.21064	N	0.999796	B;B	0.30361	0.277;0.021	B;B	0.25291	0.059;0.034	T	0.18840	-1.0324	9	0.72032	D	0.01	.	5.0391	0.14449	0.0:0.6584:0.2164:0.1252	.	254;254	E9PAV3;F8VU71	.;.	F	254	ENSP00000403817:V254F;ENSP00000448035:V254F	ENSP00000403817:V254F	V	-	1	0	NACA	55400821	0.208000	0.23494	0.885000	0.34714	0.081000	0.17604	-0.280000	0.08468	0.165000	0.19558	0.282000	0.19409	GTT		0.517	NACA-201	KNOWN	basic	protein_coding	protein_coding		NM_005594		4	318	1	0	0.150653	1	0.153296	4	318				
PLEK	5341	broad.mit.edu	37	2	68608017	68608017	+	Missense_Mutation	SNP	C	C	A			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr2:68608017C>A	ENST00000234313.7	+	3	540	c.361C>A	c.(361-363)Cca>Aca	p.P121T		NM_002664.2	NP_002655.2	P08567	PLEK_HUMAN	pleckstrin	121					actin cytoskeleton reorganization (GO:0031532)|blood coagulation (GO:0007596)|cell projection organization (GO:0030030)|cortical actin cytoskeleton organization (GO:0030866)|hematopoietic progenitor cell differentiation (GO:0002244)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of calcium-mediated signaling (GO:0050849)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|negative regulation of inositol phosphate biosynthetic process (GO:0010920)|phosphatidylinositol metabolic process (GO:0046488)|phospholipase C-inhibiting G-protein coupled receptor signaling pathway (GO:0030845)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of actin filament bundle assembly (GO:0032233)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of inositol-polyphosphate 5-phosphatase activity (GO:0010925)|positive regulation of integrin activation (GO:0033625)|positive regulation of platelet activation (GO:0010572)|protein kinase C signaling (GO:0070528)|protein secretion by platelet (GO:0070560)|regulation of cell diameter (GO:0060305)|ruffle organization (GO:0031529)|thrombin receptor signaling pathway (GO:0070493)|vesicle docking involved in exocytosis (GO:0006904)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|membrane (GO:0016020)|ruffle membrane (GO:0032587)	phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)			autonomic_ganglia(1)|endometrium(3)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	24		Ovarian(717;0.0129)		STAD - Stomach adenocarcinoma(1183;0.00159)|READ - Rectum adenocarcinoma(193;0.0419)		CATTCGACTGCCAGAAACCAT	0.453																																						ENST00000234313.7																			0				autonomic_ganglia(1)|endometrium(3)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	24						c.(361-363)Cca>Aca		pleckstrin							135.0	127.0	129.0					2																	68608017		2203	4300	6503	SO:0001583	missense	5341				actin cytoskeleton reorganization|cortical actin cytoskeleton organization|hemopoietic progenitor cell differentiation|inhibition of phospholipase C activity involved in G-protein coupled receptor signaling pathway|integrin-mediated signaling pathway|negative regulation of calcium-mediated signaling|negative regulation of inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|platelet aggregation|positive regulation of actin filament bundle assembly|positive regulation of actin filament depolymerization|positive regulation of inositol-polyphosphate 5-phosphatase activity|positive regulation of integrin activation|positive regulation of platelet activation|protein kinase C signaling cascade|protein secretion by platelet|regulation of cell diameter|ruffle organization|thrombin receptor signaling pathway|vesicle docking involved in exocytosis	cytosol|extracellular region|membrane fraction|ruffle membrane|soluble fraction	phosphatidylinositol-3,4-bisphosphate binding|protein homodimerization activity|protein kinase C binding	g.chr2:68608017C>A	X07743	CCDS1887.1	2p13.3	2013-01-10			ENSG00000115956	ENSG00000115956		"""Pleckstrin homology (PH) domain containing"""	9070	protein-coding gene	gene with protein product		173570				2897630, 12054651	Standard	NM_002664		Approved	P47	uc002sen.4	P08567	OTTHUMG00000129562	ENST00000234313.7:c.361C>A	2.37:g.68608017C>A	ENSP00000234313:p.Pro121Thr		Somatic					p.P121T	NM_002664.2	NP_002655.2	WXS	Illumina GAIIx	Phase_I	P08567	PLEK_HUMAN		STAD - Stomach adenocarcinoma(1183;0.00159)|READ - Rectum adenocarcinoma(193;0.0419)	3	540	+		Ovarian(717;0.0129)	121					B2R9E8|Q53SU8|Q6FGM8|Q6FGQ1|Q8WV81	Missense_Mutation	SNP	ENST00000234313.7	37	c.361C>A	CCDS1887.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.152027	0.78001	.	.	ENSG00000115956	ENST00000234313	T	0.21361	2.01	5.8	5.8	0.92144	Winged helix-turn-helix transcription repressor DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.45617	0.1351	L	0.58101	1.795	0.80722	D	1	D;D	0.71674	0.994;0.998	D;D	0.70016	0.931;0.967	T	0.18429	-1.0337	10	0.56958	D	0.05	.	20.0608	0.97674	0.0:1.0:0.0:0.0	.	139;121	Q59GZ2;P08567	.;PLEK_HUMAN	T	121	ENSP00000234313:P121T	ENSP00000234313:P121T	P	+	1	0	PLEK	68461521	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.487000	0.81328	2.750000	0.94351	0.655000	0.94253	CCA		0.453	PLEK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251755.1	NM_002664		4	268	1	0	0.00116845	1	0.00123969	4	268				
NSUN3	63899	broad.mit.edu	37	3	93802958	93802958	+	Missense_Mutation	SNP	C	C	A			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr3:93802958C>A	ENST00000314622.4	+	3	341	c.130C>A	c.(130-132)Cta>Ata	p.L44I		NM_022072.3	NP_071355.1	Q9H649	NSUN3_HUMAN	NOP2/Sun domain family, member 3	44							methyltransferase activity (GO:0008168)|RNA binding (GO:0003723)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|skin(1)	18						TAGGGAGATACTAACATCTCC	0.333																																						ENST00000314622.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|skin(1)	18						c.(130-132)Cta>Ata		NOP2/Sun domain family, member 3							37.0	38.0	38.0					3																	93802958		2202	4300	6502	SO:0001583	missense	63899						methyltransferase activity	g.chr3:93802958C>A	BC020602	CCDS2927.1	3q11.2	2009-11-23	2009-11-23		ENSG00000178694	ENSG00000178694		"""NOP2/Sun domain containing"""	26208	protein-coding gene	gene with protein product			"""NOL1/NOP2/Sun domain family 3"", ""NOL1/NOP2/Sun domain family, member 3"""			12477932	Standard	NM_022072		Approved	FLJ22609	uc003drl.1	Q9H649	OTTHUMG00000159025	ENST00000314622.4:c.130C>A	3.37:g.93802958C>A	ENSP00000318986:p.Leu44Ile		Somatic					p.L44I	NM_022072.3	NP_071355.1	WXS	Illumina GAIIx	Phase_I	Q9H649	NSUN3_HUMAN			3	341	+			44					Q6PG41|Q8IXG9|Q9H6M2	Missense_Mutation	SNP	ENST00000314622.4	37	c.130C>A	CCDS2927.1	.	.	.	.	.	.	.	.	.	.	C	12.99	2.104677	0.37145	.	.	ENSG00000178694	ENST00000314622	T	0.29655	1.56	5.81	2.65	0.31530	.	0.000000	0.85682	D	0.000000	T	0.46795	0.1411	L	0.49126	1.545	0.37146	D	0.901911	D	0.76494	0.999	D	0.80764	0.994	T	0.55205	-0.8177	10	0.72032	D	0.01	-12.3679	12.2438	0.54558	0.0:0.7843:0.0:0.2157	.	44	Q9H649	NSUN3_HUMAN	I	44	ENSP00000318986:L44I	ENSP00000318986:L44I	L	+	1	2	NSUN3	95285648	0.999000	0.42202	0.089000	0.20774	0.008000	0.06430	1.894000	0.39768	0.810000	0.34279	0.655000	0.94253	CTA		0.333	NSUN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352934.1	NM_022072		3	78	1	0	1	1	1	3	78				
MYH11	4629	broad.mit.edu	37	16	15842021	15842021	+	Missense_Mutation	SNP	C	C	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr16:15842021C>T	ENST00000300036.5	-	17	2172	c.2063G>A	c.(2062-2064)gGc>gAc	p.G688D	MYH11_ENST00000576790.2_Missense_Mutation_p.G688D|MYH11_ENST00000452625.2_Missense_Mutation_p.G695D|MYH11_ENST00000396324.3_Missense_Mutation_p.G695D	NM_002474.2	NP_002465.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	688	Myosin motor.				axon guidance (GO:0007411)|cardiac muscle fiber development (GO:0048739)|elastic fiber assembly (GO:0048251)|muscle contraction (GO:0006936)|skeletal muscle myosin thick filament assembly (GO:0030241)|smooth muscle contraction (GO:0006939)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|smooth muscle contractile fiber (GO:0030485)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|motor activity (GO:0003774)|structural constituent of muscle (GO:0008307)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						ATCCAGCTTGCCGGACTGCAA	0.627			T	CBFB	AML																																	ENST00000338282.6				Dom	yes		16	16p13.13-p13.12	4629	T	"""myosin, heavy polypeptide 11, smooth muscle"""			L	CBFB		AML		0				NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						c.(2062-2064)gGc>gAc		myosin, heavy chain 11, smooth muscle							45.0	39.0	41.0					16																	15842021		2197	4300	6497	SO:0001583	missense	4629				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr16:15842021C>T	X69292	CCDS10565.1, CCDS10566.1, CCDS45423.1, CCDS45424.1	16p13.11	2011-09-27	2006-09-29		ENSG00000133392	ENSG00000133392		"""Myosins / Myosin superfamily : Class II"""	7569	protein-coding gene	gene with protein product		160745	"""myosin, heavy polypeptide 11, smooth muscle"""			7684189	Standard	NM_001040113		Approved	SMMHC, SMHC	uc002ddx.3	P35749	OTTHUMG00000129935	ENST00000300036.5:c.2063G>A	16.37:g.15842021C>T	ENSP00000300036:p.Gly688Asp		Somatic				MYH11_ENST00000452625.2_Missense_Mutation_p.G695D|MYH11_ENST00000300036.5_Missense_Mutation_p.G688D|MYH11_ENST00000396324.3_Missense_Mutation_p.G695D|MYH11_ENST00000576790.1_Missense_Mutation_p.G688D	p.G688D	NM_022844.2	NP_074035.1	WXS	Illumina GAIIx	Phase_I	P35749	MYH11_HUMAN			17	2169	-			688			Myosin head-like.		D2JYH7|O00396|O94944|P78422|Q3MIV8|Q3MNF0|Q3MNF1	Missense_Mutation	SNP	ENST00000300036.5	37	c.2063G>A	CCDS10565.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.130748	0.77549	.	.	ENSG00000133392	ENST00000300036;ENST00000338282;ENST00000396320;ENST00000396324;ENST00000452625	D;D;D;D	0.87412	-2.25;-2.25;-2.25;-2.25	4.94	4.94	0.65067	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.92851	0.7726	M	0.72624	2.21	0.80722	D	1	D;D;D;D;D	0.71674	0.998;0.996;0.979;0.996;0.979	D;D;D;D;D	0.79784	0.993;0.993;0.993;0.993;0.993	D	0.93755	0.7062	10	0.87932	D	0	.	17.1766	0.86843	0.0:1.0:0.0:0.0	.	695;688;695;688;695	B1PS43;P35749;Q3MNF1;Q3MIV8;Q3MNF0	.;MYH11_HUMAN;.;.;.	D	688;688;695;695;695	ENSP00000300036:G688D;ENSP00000345136:G688D;ENSP00000379616:G695D;ENSP00000407821:G695D	ENSP00000300036:G688D	G	-	2	0	MYH11	15749522	1.000000	0.71417	0.988000	0.46212	0.457000	0.32468	7.813000	0.86123	2.285000	0.76669	0.561000	0.74099	GGC		0.627	MYH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252192.2	NM_001040113		4	190	0	0	0	1	0	4	190				
ADCY2	108	broad.mit.edu	37	5	7757697	7757697	+	Missense_Mutation	SNP	A	A	G	rs138503341	byFrequency	TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr5:7757697A>G	ENST00000338316.4	+	16	2181	c.2092A>G	c.(2092-2094)Atg>Gtg	p.M698V	ADCY2_ENST00000537121.1_Missense_Mutation_p.M518V	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	698					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)	p.?(1)		NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						CGTGTTCAACATGGTAAGTCC	0.542																																						ENST00000338316.4																			1	Unknown(1)	p.?(1)	haematopoietic_and_lymphoid_tissue(1)	NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						c.(2092-2094)Atg>Gtg		adenylate cyclase 2 (brain)							74.0	72.0	73.0					5																	7757697		2203	4300	6503	SO:0001583	missense	108				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding	g.chr5:7757697A>G	AB028983	CCDS3872.2	5p15.3	2013-02-04			ENSG00000078295	ENSG00000078295	4.6.1.1	"""Adenylate cyclases"""	233	protein-coding gene	gene with protein product		103071				1427768	Standard	NM_020546		Approved	HBAC2, KIAA1060, AC2	uc003jdz.1	Q08462	OTTHUMG00000090476	ENST00000338316.4:c.2092A>G	5.37:g.7757697A>G	ENSP00000342952:p.Met698Val		Somatic				ADCY2_ENST00000537121.1_Missense_Mutation_p.M518V	p.M698V	NM_020546.2	NP_065433.2	WXS	Illumina GAIIx	Phase_I	Q08462	ADCY2_HUMAN			16	2181	+			698					B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	Missense_Mutation	SNP	ENST00000338316.4	37	c.2092A>G	CCDS3872.2	.	.	.	.	.	.	.	.	.	.	A	13.67	2.306963	0.40795	.	.	ENSG00000078295	ENST00000338316;ENST00000541993;ENST00000537121	T;T	0.39592	1.07;1.07	5.58	4.4	0.53042	.	0.040777	0.85682	D	0.000000	T	0.42966	0.1226	M	0.71581	2.175	0.32977	D	0.523155	B;B	0.13145	0.004;0.007	B;B	0.13407	0.009;0.005	T	0.53975	-0.8362	10	0.72032	D	0.01	.	11.0518	0.47894	0.8606:0.0:0.0:0.1393	.	518;698	B7Z2C1;Q08462	.;ADCY2_HUMAN	V	698;531;518	ENSP00000342952:M698V;ENSP00000444803:M518V	ENSP00000342952:M698V	M	+	1	0	ADCY2	7810697	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	7.285000	0.78660	0.920000	0.36970	0.528000	0.53228	ATG		0.542	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206930.2	NM_020546		6	309	0	0	0	1	0	6	309				
HEATR1	55127	broad.mit.edu	37	1	236740143	236740143	+	Silent	SNP	C	C	A			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr1:236740143C>A	ENST00000366582.3	-	21	2976	c.2862G>T	c.(2860-2862)ctG>ctT	p.L954L	HEATR1_ENST00000366581.2_Silent_p.L954L	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	954					rRNA processing (GO:0006364)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			GATCTATTATCAGATAAAACG	0.443																																						ENST00000366582.3																			0				NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87						c.(2860-2862)ctG>ctT		HEAT repeat containing 1							90.0	93.0	92.0					1																	236740143		2203	4300	6503	SO:0001819	synonymous_variant	55127				rRNA processing	nucleolus|ribonucleoprotein complex	protein binding	g.chr1:236740143C>A	BC065205	CCDS31066.1	1q43	2011-08-12			ENSG00000119285	ENSG00000119285			25517	protein-coding gene	gene with protein product	"""UTP10, small subunit (SSU) processome component, homolog (yeast)"""					17699751	Standard	NM_018072		Approved	FLJ10359, BAP28, UTP10	uc001hyd.2	Q9H583	OTTHUMG00000040061	ENST00000366582.3:c.2862G>T	1.37:g.236740143C>A			Somatic				HEATR1_ENST00000366581.2_Silent_p.L954L	p.L954L	NM_018072.5	NP_060542.4	WXS	Illumina GAIIx	Phase_I	Q9H583	HEAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00117)		21	2976	-	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	954					Q5T3Q8|Q6P197|Q9NW23	Silent	SNP	ENST00000366582.3	37	c.2862G>T	CCDS31066.1																																																																																				0.443	HEATR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096635.1	XM_375853		4	112	1	0	0.150653	1	0.153296	4	112				
SRL	6345	broad.mit.edu	37	16	4242615	4242615	+	Missense_Mutation	SNP	C	C	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr16:4242615C>T	ENST00000399609.3	-	6	973	c.961G>A	c.(961-963)Gtg>Atg	p.V321M	SRL_ENST00000537996.1_Missense_Mutation_p.V279M	NM_001098814.1	NP_001092284.1	Q86TD4	SRCA_HUMAN	sarcalumenin	780	Acidic domain, probably binds calcium. {ECO:0000250}.					sarcoplasmic reticulum (GO:0016529)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(3)	21						TTCTCGATCACCTGATTCAGG	0.547																																						ENST00000399609.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(3)	21						c.(961-963)Gtg>Atg		sarcalumenin							108.0	116.0	114.0					16																	4242615		2077	4207	6284	SO:0001583	missense	6345					sarcoplasmic reticulum lumen	GTP binding|GTPase activity	g.chr16:4242615C>T	AK056588	CCDS42113.1	16p13.3	2008-02-05				ENSG00000185739			11295	protein-coding gene	gene with protein product		604992				2762314	Standard	NM_001098814		Approved		uc002cvz.4	Q86TD4		ENST00000399609.3:c.961G>A	16.37:g.4242615C>T	ENSP00000382518:p.Val321Met		Somatic				SRL_ENST00000537996.1_Missense_Mutation_p.V279M	p.V321M	NM_001098814.1	NP_001092284.1	WXS	Illumina GAIIx	Phase_I	Q86TD4	SRCA_HUMAN			6	973	-			780			Acidic domain, probably binds calcium (By similarity).			Missense_Mutation	SNP	ENST00000399609.3	37	c.961G>A	CCDS42113.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.276883	0.80580	.	.	ENSG00000185739	ENST00000399609;ENST00000330063;ENST00000537996	T;T	0.80653	-1.4;-1.4	5.19	5.19	0.71726	.	0.000000	0.64402	U	0.000001	D	0.87834	0.6277	L	0.59436	1.845	0.80722	D	1	D	0.71674	0.998	D	0.69142	0.962	D	0.87668	0.2539	10	0.52906	T	0.07	-20.6259	18.8873	0.92383	0.0:1.0:0.0:0.0	.	321	Q86TD4-2	.	M	321;779;279	ENSP00000382518:V321M;ENSP00000440350:V279M	ENSP00000333285:V779M	V	-	1	0	SRL	4182616	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.932000	0.70121	2.681000	0.91329	0.655000	0.94253	GTG		0.547	SRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438087.1	XM_064152		122	364	0	0	0	1	0	122	364				
RMI2	116028	broad.mit.edu	37	16	11444621	11444621	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr16:11444621G>T	ENST00000312499.5	+	2	459	c.418G>T	c.(418-420)Gaa>Taa	p.E140*	AC009121.1_ENST00000458885.1_RNA|RMI2_ENST00000381820.2_Nonsense_Mutation_p.E77*|RP11-485G7.6_ENST00000574681.1_RNA|RMI2_ENST00000572173.1_Nonsense_Mutation_p.E77*|RMI2_ENST00000576027.1_3'UTR	NM_152308.1	NP_689521.1	Q96E14	RMI2_HUMAN	RecQ mediated genome instability 2	140					DNA replication (GO:0006260)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(1)|kidney(1)|ovary(1)	3						ACTGGAGGTAGAAGATTTACA	0.428																																						ENST00000572173.1																			0				endometrium(1)|kidney(1)|ovary(1)	3						c.(229-231)Gaa>Taa		RecQ mediated genome instability 2							98.0	91.0	93.0					16																	11444621		2197	4300	6497	SO:0001587	stop_gained	116028				DNA replication	nucleus	DNA binding	g.chr16:11444621G>T	AK123764	CCDS10548.1	16p13.13	2013-06-10	2013-06-10	2011-06-09	ENSG00000175643	ENSG00000175643			28349	protein-coding gene	gene with protein product		612426	"""chromosome 16 open reading frame 75"", ""RMI2, RecQ mediated genome instability 2, homolog (S. cerevisiae)"""	C16orf75		18923083, 20826341	Standard	NM_152308		Approved	MGC24665, BLAP18	uc002daw.1	Q96E14	OTTHUMG00000129793	ENST00000312499.5:c.418G>T	16.37:g.11444621G>T	ENSP00000310356:p.Glu140*		Somatic				RMI2_ENST00000381820.2_Nonsense_Mutation_p.E77*|RMI2_ENST00000312499.5_Nonsense_Mutation_p.E140*|RMI2_ENST00000576027.1_3'UTR	p.E77*			WXS	Illumina GAIIx	Phase_I	Q96E14	RMI2_HUMAN			5	874	+			140					B3KVZ6|Q49AE2|Q8TBL0	Nonsense_Mutation	SNP	ENST00000312499.5	37	c.229G>T	CCDS10548.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.844914	0.91197	.	.	ENSG00000175643	ENST00000381820;ENST00000312499	.	.	.	5.92	4.95	0.65309	.	0.060465	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	.	14.7725	0.69691	0.0:0.1452:0.8548:0.0	.	.	.	.	X	77;140	.	ENSP00000310356:E140X	E	+	1	0	RMI2	11352122	1.000000	0.71417	1.000000	0.80357	0.783000	0.44284	8.104000	0.89551	1.460000	0.47911	0.655000	0.94253	GAA		0.428	RMI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252019.1	NM_152308		13	285	1	0	1.61879e-10	1	1.84098e-10	13	285				
GRID2	2895	broad.mit.edu	37	4	94693450	94693450	+	Missense_Mutation	SNP	G	G	A			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr4:94693450G>A	ENST00000282020.4	+	16	3083	c.2825G>A	c.(2824-2826)cGc>cAc	p.R942H	GRID2_ENST00000510992.1_Missense_Mutation_p.R847H	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	942	Interaction with AP4M1. {ECO:0000250}.				cellular protein localization (GO:0034613)|cerebellar granule cell differentiation (GO:0021707)|glutamate receptor signaling pathway (GO:0007215)|heterophilic cell-cell adhesion (GO:0007157)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|ionotropic glutamate receptor complex (GO:0008328)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|PDZ domain binding (GO:0030165)|scaffold protein binding (GO:0097110)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)		ACTCTTAGCCGCACACTGTCA	0.493																																						ENST00000282020.4																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100						c.(2824-2826)cGc>cAc		glutamate receptor, ionotropic, delta 2	L-Glutamic Acid(DB00142)						103.0	97.0	99.0					4																	94693450		2203	4300	6503	SO:0001583	missense	2895				glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	g.chr4:94693450G>A	AF009014	CCDS3637.1, CCDS68758.1	4q22	2012-08-29			ENSG00000152208	ENSG00000152208		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4576	protein-coding gene	gene with protein product		602368				9465309	Standard	NM_001510		Approved	GluD2, GluR-delta-2	uc011cdt.2	O43424	OTTHUMG00000130975	ENST00000282020.4:c.2825G>A	4.37:g.94693450G>A	ENSP00000282020:p.Arg942His		Somatic				GRID2_ENST00000510992.1_Missense_Mutation_p.R847H	p.R942H	NM_001510.2	NP_001501.2	WXS	Illumina GAIIx	Phase_I	O43424	GRID2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	16	3083	+		Hepatocellular(203;0.114)|all_hematologic(202;0.177)	942			Interaction with AP4M1 (By similarity).		E9PH24|Q4KKU8|Q4KKU9|Q4KKV0|Q59FZ1	Missense_Mutation	SNP	ENST00000282020.4	37	c.2825G>A	CCDS3637.1	.	.	.	.	.	.	.	.	.	.	G	18.64	3.666697	0.67814	.	.	ENSG00000152208	ENST00000282020;ENST00000510992	T;T	0.17054	2.35;2.3	5.52	5.52	0.82312	.	0.190903	0.49305	D	0.000141	T	0.33352	0.0860	L	0.32530	0.975	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.69479	0.964;0.964	T	0.04165	-1.0972	10	0.87932	D	0	.	19.4447	0.94841	0.0:0.0:1.0:0.0	.	847;942	E9PH24;O43424	.;GRID2_HUMAN	H	942;847	ENSP00000282020:R942H;ENSP00000421257:R847H	ENSP00000282020:R942H	R	+	2	0	GRID2	94912473	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.429000	0.97481	2.588000	0.87417	0.650000	0.86243	CGC		0.493	GRID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253588.2			5	294	0	0	0	1	0	5	294				
CEP250	11190	broad.mit.edu	37	20	34095955	34095955	+	Missense_Mutation	SNP	G	G	A			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr20:34095955G>A	ENST00000397527.1	+	32	7562	c.6842G>A	c.(6841-6843)cGg>cAg	p.R2281Q	CEP250_ENST00000342580.4_Missense_Mutation_p.R2225Q	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	2281					centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|protein localization (GO:0008104)|protein localization to organelle (GO:0033365)|regulation of centriole-centriole cohesion (GO:0030997)	centriole (GO:0005814)|centrosome (GO:0005813)|cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)|protein complex (GO:0043234)|spindle pole centrosome (GO:0031616)	protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			GCAGTGGCCCGGCTGGAGATT	0.582																																						ENST00000397527.1																			0				NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(6841-6843)cGg>cAg		centrosomal protein 250kDa							129.0	133.0	131.0					20																	34095955		2203	4300	6503	SO:0001583	missense	11190				centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding	g.chr20:34095955G>A	AF022655	CCDS13255.1	20q11.22	2014-02-20	2006-01-11	2006-01-11	ENSG00000126001	ENSG00000126001			1859	protein-coding gene	gene with protein product		609689	"""centrosomal protein 2"""	CEP2		9506584, 9647649	Standard	NM_007186		Approved	C-NAP1	uc021wco.1	Q9BV73	OTTHUMG00000032343	ENST00000397527.1:c.6842G>A	20.37:g.34095955G>A	ENSP00000380661:p.Arg2281Gln		Somatic				CEP250_ENST00000342580.4_Missense_Mutation_p.R2225Q	p.R2281Q	NM_007186.3	NP_009117.2	WXS	Illumina GAIIx	Phase_I	Q9BV73	CP250_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.0106)		32	7562	+	Lung NSC(9;0.00156)|all_lung(11;0.00243)		2281					E1P5Q3|O14812|O60588|Q9H450	Missense_Mutation	SNP	ENST00000397527.1	37	c.6842G>A	CCDS13255.1	.	.	.	.	.	.	.	.	.	.	g	4.853	0.158605	0.09236	.	.	ENSG00000126001	ENST00000397527;ENST00000342580;ENST00000422671	T;T;T	0.43294	2.74;2.77;0.95	4.37	-3.12	0.05282	.	2.046660	0.02576	N	0.098291	T	0.23572	0.0570	N	0.08118	0	0.09310	N	1	B	0.15719	0.014	B	0.04013	0.001	T	0.17745	-1.0359	10	0.21014	T	0.42	.	10.5546	0.45110	0.4202:0.0:0.5798:0.0	.	2281	Q9BV73	CP250_HUMAN	Q	2281;2225;769	ENSP00000380661:R2281Q;ENSP00000341541:R2225Q;ENSP00000395992:R769Q	ENSP00000341541:R2225Q	R	+	2	0	CEP250	33559369	0.000000	0.05858	0.014000	0.15608	0.162000	0.22319	-0.457000	0.06745	-0.906000	0.03866	-0.372000	0.07161	CGG		0.582	CEP250-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078877.7	NM_007186		5	531	0	0	0	1	0	5	531				
KNTC1	9735	broad.mit.edu	37	12	123109143	123109143	+	Splice_Site	SNP	A	A	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr12:123109143A>T	ENST00000333479.7	+	63	6692		c.e63-1		HCAR1_ENST00000356987.2_Intron|KNTC1_ENST00000436959.3_Splice_Site|KNTC1_ENST00000534995.1_Splice_Site|KNTC1_ENST00000450485.2_Splice_Site|KNTC1_ENST00000537348.1_Splice_Site	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1						mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|protein complex assembly (GO:0006461)|regulation of exit from mitosis (GO:0007096)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		TTGATTTTGTAGTTTAGATGA	0.463																																						ENST00000333479.7																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72						c.e63-1		kinetochore associated 1							39.0	41.0	40.0					12																	123109143		1896	4097	5993	SO:0001630	splice_region_variant	9735				cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding	g.chr12:123109143A>T		CCDS45002.1	12q24.31	2013-01-17			ENSG00000184445	ENSG00000184445			17255	protein-coding gene	gene with protein product	"""rough deal homolog (Drosophila)"""	607363				11146660, 11590237	Standard	NM_014708		Approved	KIAA0166, ROD	uc001ucv.3	P50748	OTTHUMG00000168861	ENST00000333479.7:c.6516-1A>T	12.37:g.123109143A>T			Somatic				HCAR1_ENST00000356987.2_Intron|KNTC1_ENST00000534995.1_Splice_Site|KNTC1_ENST00000436959.3_Splice_Site|KNTC1_ENST00000450485.2_Splice_Site|KNTC1_ENST00000537348.1_Splice_Site		NM_014708.4	NP_055523.1	WXS	Illumina GAIIx	Phase_I	P50748	KNTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)	63	6692	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)							A7E2C4|B3KSG2	Splice_Site	SNP	ENST00000333479.7	37		CCDS45002.1	.	.	.	.	.	.	.	.	.	.	A	15.87	2.961013	0.53400	.	.	ENSG00000184445	ENST00000450485;ENST00000333479;ENST00000436959;ENST00000534995	.	.	.	5.1	5.1	0.69264	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.9993	0.64424	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	KNTC1	121675096	1.000000	0.71417	0.080000	0.20451	0.232000	0.25224	5.186000	0.65082	2.057000	0.61298	0.459000	0.35465	.		0.463	KNTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396110.2		Intron	4	74	0	0	0	1	0	4	74				
CHAT	1103	broad.mit.edu	37	10	50828642	50828642	+	Silent	SNP	C	C	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr10:50828642C>T	ENST00000337653.2	+	4	834	c.681C>T	c.(679-681)ggC>ggT	p.G227G	CHAT_ENST00000395562.2_Silent_p.G145G|CHAT_ENST00000351556.3_Silent_p.G109G|CHAT_ENST00000455728.2_Silent_p.G109G|CHAT_ENST00000460699.1_3'UTR|CHAT_ENST00000395559.2_Silent_p.G109G|CHAT_ENST00000339797.1_Silent_p.G109G	NM_001142929.1|NM_020549.4	NP_001136401.1|NP_065574	P28329	CLAT_HUMAN	choline O-acetyltransferase	227					adult walking behavior (GO:0007628)|dendrite development (GO:0016358)|establishment of synaptic specificity at neuromuscular junction (GO:0007529)|glycerophospholipid biosynthetic process (GO:0046474)|muscle organ development (GO:0007517)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|rhythmic behavior (GO:0007622)|rhythmic excitation (GO:0043179)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	choline O-acetyltransferase activity (GO:0004102)			central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)|Nicotine(DB00184)	ACTTCCCTGGCACCGATGACC	0.597																																						ENST00000395562.2																			0				central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56						c.(433-435)ggC>ggT		choline O-acetyltransferase	Choline(DB00122)						114.0	86.0	96.0					10																	50828642		2203	4300	6503	SO:0001819	synonymous_variant	1103				neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity	g.chr10:50828642C>T	AF305907	CCDS7232.1, CCDS7233.1, CCDS44389.1	10q11.2	2010-05-11	2010-05-11		ENSG00000070748	ENSG00000070748	2.3.1.6		1912	protein-coding gene	gene with protein product		118490	"""choline acetyltransferase"""			1840566	Standard	NM_020984		Approved		uc001jhz.2	P28329	OTTHUMG00000018198	ENST00000337653.2:c.681C>T	10.37:g.50828642C>T			Somatic				CHAT_ENST00000460699.1_3'UTR|CHAT_ENST00000337653.2_Silent_p.G227G|CHAT_ENST00000395559.2_Silent_p.G109G|CHAT_ENST00000339797.1_Silent_p.G109G|CHAT_ENST00000351556.3_Silent_p.G109G|CHAT_ENST00000455728.2_Silent_p.G109G	p.G145G	NM_001142933.1|NM_001142934.1	NP_001136405.1|NP_001136406.1	WXS	Illumina GAIIx	Phase_I	P28329	CLAT_HUMAN		GBM - Glioblastoma multiforme(2;0.000585)	5	904	+		all_neural(218;0.107)	227					A2BDF4|A2BDF5|Q16488|Q9BQ23|Q9BQ35|Q9BQE1	Silent	SNP	ENST00000337653.2	37	c.435C>T	CCDS7232.1																																																																																				0.597	CHAT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047997.1	NM_020549		5	218	0	0	0	1	0	5	218				
CCDC73	493860	broad.mit.edu	37	11	32635105	32635105	+	Missense_Mutation	SNP	G	G	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr11:32635105G>C	ENST00000335185.5	-	16	2802	c.2759C>G	c.(2758-2760)aCa>aGa	p.T920R	CCDC73_ENST00000534415.1_5'Flank	NM_001008391.2	NP_001008392.2	Q6ZRK6	CCD73_HUMAN	coiled-coil domain containing 73	920										NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51	Breast(20;0.112)					ACTGCTCGCTGTTTGACTTTC	0.373																																						ENST00000335185.5																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51						c.(2758-2760)aCa>aGa		coiled-coil domain containing 73							126.0	117.0	120.0					11																	32635105		1832	4072	5904	SO:0001583	missense	493860							g.chr11:32635105G>C	AK128159	CCDS41630.1	11p13	2006-02-11			ENSG00000186714	ENSG00000186714			23261	protein-coding gene	gene with protein product		612328					Standard	NM_001008391		Approved	NY-SAR-79	uc001mtv.4	Q6ZRK6	OTTHUMG00000166279	ENST00000335185.5:c.2759C>G	11.37:g.32635105G>C	ENSP00000335325:p.Thr920Arg		Somatic					p.T920R	NM_001008391.2	NP_001008392.2	WXS	Illumina GAIIx	Phase_I	Q6ZRK6	CCD73_HUMAN			16	2802	-	Breast(20;0.112)		920					Q6P5Q7|Q6ZMW0|Q86WE7	Missense_Mutation	SNP	ENST00000335185.5	37	c.2759C>G	CCDS41630.1	.	.	.	.	.	.	.	.	.	.	G	14.11	2.437528	0.43224	.	.	ENSG00000186714	ENST00000335185	.	.	.	5.34	3.48	0.39840	.	0.258635	0.32852	N	0.005579	T	0.65852	0.2731	M	0.61703	1.905	0.58432	D	0.999999	D	0.69078	0.997	P	0.61201	0.885	T	0.65471	-0.6160	9	0.87932	D	0	.	6.7007	0.23223	0.1575:0.1455:0.697:0.0	.	920	Q6ZRK6	CCD73_HUMAN	R	920	.	ENSP00000335325:T920R	T	-	2	0	CCDC73	32591681	0.913000	0.31002	0.967000	0.41034	0.594000	0.36715	1.110000	0.31147	0.633000	0.30452	0.544000	0.68410	ACA		0.373	CCDC73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388874.2	NM_001008391		5	291	0	0	0	1	0	5	291				
MORC4	79710	broad.mit.edu	37	X	106186409	106186409	+	Missense_Mutation	SNP	T	T	G			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chrX:106186409T>G	ENST00000355610.4	-	15	1986	c.1712A>C	c.(1711-1713)gAa>gCa	p.E571A	MORC4_ENST00000255495.7_Missense_Mutation_p.E571A|MORC4_ENST00000535534.1_Missense_Mutation_p.E319A	NM_001085354.2|NM_024657.4	NP_001078823.1|NP_078933.3	Q8TE76	MORC4_HUMAN	MORC family CW-type zinc finger 4	571						nucleus (GO:0005634)	zinc ion binding (GO:0008270)			endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	28						CTCCACCGGTTCTTCACCTAG	0.438																																						ENST00000355610.4																			0				endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	28						c.(1711-1713)gAa>gCa		MORC family CW-type zinc finger 4							86.0	89.0	88.0					X																	106186409		2202	4300	6502	SO:0001583	missense	79710						ATP binding|zinc ion binding	g.chrX:106186409T>G	AK021627	CCDS14525.2, CCDS48146.1	Xq22.3	2008-02-05	2005-06-15	2005-06-15	ENSG00000133131	ENSG00000133131			23485	protein-coding gene	gene with protein product			"""zinc finger, CW-type with coiled-coil domain 2"", ""zinc finger, CW type with coiled-coil domain 2"""	ZCWCC2		14607086	Standard	NM_024657		Approved	ZCW4, FLJ11565	uc004emp.4	Q8TE76	OTTHUMG00000022155	ENST00000355610.4:c.1712A>C	X.37:g.106186409T>G	ENSP00000347821:p.Glu571Ala		Somatic				MORC4_ENST00000255495.7_Missense_Mutation_p.E571A|MORC4_ENST00000535534.1_Missense_Mutation_p.E319A	p.E571A	NM_001085354.2|NM_024657.4	NP_001078823.1|NP_078933.3	WXS	Illumina GAIIx	Phase_I	Q8TE76	MORC4_HUMAN			15	1986	-			571					A1YR23|A1YR24|H7BXF1|Q5JUK7|Q96MZ2|Q9HAI7	Missense_Mutation	SNP	ENST00000355610.4	37	c.1712A>C	CCDS14525.2	.	.	.	.	.	.	.	.	.	.	T	16.01	3.000677	0.54254	.	.	ENSG00000133131	ENST00000355610;ENST00000535534;ENST00000255495	T;T;T	0.35421	2.58;1.31;2.55	5.23	5.23	0.72850	.	0.000000	0.46758	D	0.000268	T	0.51702	0.1690	L	0.54323	1.7	0.40224	D	0.977778	D;D;D	0.69078	0.997;0.997;0.997	D;D;D	0.73380	0.98;0.98;0.98	T	0.52668	-0.8545	10	0.45353	T	0.12	-14.4658	10.4803	0.44689	0.0:0.0:0.0:1.0	.	319;571;571	A1YR24;A1YR23;Q8TE76	.;.;MORC4_HUMAN	A	571;319;571	ENSP00000347821:E571A;ENSP00000440359:E319A;ENSP00000255495:E571A	ENSP00000255495:E571A	E	-	2	0	MORC4	106073065	1.000000	0.71417	0.977000	0.42913	0.869000	0.49853	2.574000	0.46016	1.743000	0.51761	0.441000	0.28932	GAA		0.438	MORC4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057816.3	NM_024657		12	196	0	0	0	1	0	12	196				
MUC16	94025	broad.mit.edu	37	19	8999035	8999035	+	Silent	SNP	G	G	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr19:8999035G>C	ENST00000397910.4	-	57	41012	c.40809C>G	c.(40807-40809)ccC>ccG	p.P13603P	MUC16_ENST00000380951.5_Silent_p.P244P	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13605				Missing (in Ref. 3; AAK74120). {ECO:0000305}.	cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGCTAGTGGTGGGCACAGAGC	0.542																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(40807-40809)ccC>ccG		mucin 16, cell surface associated							67.0	67.0	67.0					19																	8999035		1992	4157	6149	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:8999035G>C	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.40809C>G	19.37:g.8999035G>C			Somatic				MUC16_ENST00000380951.5_Silent_p.P244P	p.P13603P	NM_024690.2	NP_078966.2	WXS	Illumina GAIIx	Phase_I	Q8WXI7	MUC16_HUMAN			57	41012	-			13605	Missing (in Ref. 3; AAK74120).				Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.40809C>G	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	.	1.463	-0.561970	0.03939	.	.	ENSG00000181143	ENST00000542240	.	.	.	1.04	1.04	0.20106	.	.	.	.	.	T	0.41789	0.1174	.	.	.	.	.	.	.	.	.	.	.	.	T	0.50625	-0.8806	4	0.45353	T	0.12	.	5.4159	0.16374	0.0:0.0:1.0:0.0	.	.	.	.	R	443	.	ENSP00000370334:P443R	P	-	2	0	MUC16	8860035	0.002000	0.14202	0.004000	0.12327	0.010000	0.07245	0.377000	0.20552	0.865000	0.35603	0.455000	0.32223	CCA		0.542	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		6	153	0	0	0	1	0	6	153				
KIR3DX1	90011	broad.mit.edu	37	19	55048303	55048303	+	Silent	SNP	C	C	T	rs374837537		TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr19:55048303C>T	ENST00000335056.3	+	5	908	c.870C>T	c.(868-870)ggC>ggT	p.G290G	KIR3DX1_ENST00000482404.1_3'UTR			Q9H7L2	KI3X1_HUMAN	killer cell immunoglobulin-like receptor, three domains, X1	290	Ig-like C2-type 2.					extracellular region (GO:0005576)				endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|skin(1)	24				GBM - Glioblastoma multiforme(193;0.099)		CAGTCCCTGGCGGGACCTATA	0.582																																					Colon(183;529 2002 28270 32358 35845)|Esophageal Squamous(50;443 1006 2278 10294 37938)	ENST00000335056.3																			0				endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|skin(1)	24						c.(868-870)ggC>ggT				C		1,3839		0,1,1919	86.0	84.0	85.0			-3.6	0.0	19		85	0,8282		0,0,4141	no	intergenic				0,1,6060	TT,TC,CC		0.0,0.026,0.0082			55048303	1,12121	1920	4141	6061	SO:0001819	synonymous_variant	90011							g.chr19:55048303C>T	BC033195		19q13.42	2013-03-26	2006-09-12	2006-09-12	ENSG00000104970	ENSG00000104970		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	25043	other	unknown			"""leukocyte receptor cluster (LRC) member 12"""	LENG12		11441184	Standard	NR_026716		Approved	FLJ00060	uc010erm.2	Q9H7L2	OTTHUMG00000065696	ENST00000335056.3:c.870C>T	19.37:g.55048303C>T			Somatic				KIR3DX1_ENST00000482404.1_3'UTR	p.G290G			WXS	Illumina GAIIx	Phase_I				GBM - Glioblastoma multiforme(193;0.099)	5	908	+								B7WNL0|Q8N0S4	Silent	SNP	ENST00000335056.3	37	c.870C>T																																																																																					0.582	KIR3DX1-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000140800.2	NR_026716		6	159	0	0	0	1	0	6	159				
ANGPT4	51378	broad.mit.edu	37	20	858848	858848	+	Silent	SNP	G	G	A			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr20:858848G>A	ENST00000381922.3	-	7	1278	c.1176C>T	c.(1174-1176)gcC>gcT	p.A392A	ANGPT4_ENST00000546022.1_Silent_p.A392A	NM_015985.2	NP_057069.1	Q9Y264	ANGP4_HUMAN	angiopoietin 4	392	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cellular response to hypoxia (GO:0071456)|leukocyte migration (GO:0050900)|negative regulation of angiogenesis (GO:0016525)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	receptor tyrosine kinase binding (GO:0030971)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	27						GTTCGTACTGGGCATAGGCCT	0.622																																					Pancreas(181;481 2077 3259 31286 49856)	ENST00000381922.3																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	27						c.(1174-1176)gcC>gcT		angiopoietin 4							61.0	48.0	52.0					20																	858848		2203	4300	6503	SO:0001819	synonymous_variant	51378				anti-apoptosis|blood coagulation|cellular response to hypoxia|leukocyte migration|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|signal transduction	extracellular space	receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity	g.chr20:858848G>A	AF074332	CCDS13009.1	20p13	2013-02-06			ENSG00000101280	ENSG00000101280		"""Fibrinogen C domain containing"""	487	protein-coding gene	gene with protein product		603705				10051567, 10218486	Standard	NM_015985		Approved		uc002wei.3	Q9Y264	OTTHUMG00000031652	ENST00000381922.3:c.1176C>T	20.37:g.858848G>A			Somatic				ANGPT4_ENST00000546022.1_Silent_p.A392A	p.A392A	NM_015985.2	NP_057069.1	WXS	Illumina GAIIx	Phase_I	Q9Y264	ANGP4_HUMAN			7	1278	-			392			Fibrinogen C-terminal.		B4E3J9|Q5TFF4|Q9H4Z4	Silent	SNP	ENST00000381922.3	37	c.1176C>T	CCDS13009.1																																																																																				0.622	ANGPT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077493.1	NM_015985		4	217	0	0	0	1	0	4	217				
NDUFV3	4731	broad.mit.edu	37	21	44324239	44324239	+	Intron	SNP	G	G	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr21:44324239G>T	ENST00000340344.4	+	3	235				NDUFV3_ENST00000460259.1_3'UTR|NDUFV3_ENST00000354250.2_Missense_Mutation_p.D373Y	NM_001001503.1	NP_001001503.1	P56181	NDUV3_HUMAN	NADH dehydrogenase (ubiquinone) flavoprotein 3, 10kDa						cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	10				STAD - Stomach adenocarcinoma(101;0.0606)		AATCGTGGAAGATCAGATACC	0.572																																						ENST00000354250.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	10						c.(1117-1119)Gat>Tat		NADH dehydrogenase (ubiquinone) flavoprotein 3, 10kDa	NADH(DB00157)						73.0	66.0	69.0					21																	44324239		2203	4300	6503	SO:0001627	intron_variant	4731				mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I|nucleus	NADH dehydrogenase (ubiquinone) activity	g.chr21:44324239G>T		CCDS33572.1, CCDS33573.1	21q22.3	2011-07-04	2002-08-29		ENSG00000160194	ENSG00000160194	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7719	protein-coding gene	gene with protein product	"""complex I 10kDa subunit"""	602184	"""NADH dehydrogenase (ubiquinone) flavoprotein 3 (10kD)"""			9344673	Standard	NM_021075		Approved	CI-10k	uc002zcm.3	P56181	OTTHUMG00000086823	ENST00000340344.4:c.170-4735G>T	21.37:g.44324239G>T			Somatic				NDUFV3_ENST00000340344.3_Intron|NDUFV3_ENST00000460259.1_3'UTR	p.D373Y	NM_021075.3	NP_066553.3	WXS	Illumina GAIIx	Phase_I	P56181	NDUV3_HUMAN		STAD - Stomach adenocarcinoma(101;0.0606)	3	1186	+			0					A8K0M1|J3KNX7|Q6FGD3|Q8WU60|Q9HCR5	Missense_Mutation	SNP	ENST00000340344.4	37	c.1117G>T	CCDS33573.1	.	.	.	.	.	.	.	.	.	.	G	13.68	2.309437	0.40895	.	.	ENSG00000160194	ENST00000354250	.	.	.	4.13	3.21	0.36854	.	0.567892	0.15808	N	0.243603	T	0.48132	0.1483	L	0.32530	0.975	0.20074	N	0.999932	D	0.57571	0.98	P	0.62184	0.899	T	0.30179	-0.9987	9	0.72032	D	0.01	-4.3778	10.2001	0.43077	0.0:0.2039:0.7961:0.0	.	373	P56181-2	.	Y	373	.	ENSP00000346196:D373Y	D	+	1	0	NDUFV3	43197308	0.875000	0.30112	0.063000	0.19743	0.004000	0.04260	1.559000	0.36320	0.992000	0.38840	0.561000	0.74099	GAT		0.572	NDUFV3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195448.2			46	46	1	0	2.2618e-39	1	2.69557e-39	46	46				
CCDC155	147872	broad.mit.edu	37	19	49900970	49900970	+	Missense_Mutation	SNP	G	G	A	rs202084331		TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr19:49900970G>A	ENST00000447857.3	+	6	668	c.463G>A	c.(463-465)Gag>Aag	p.E155K		NM_144688.4	NP_653289.3	Q8N6L0	KASH5_HUMAN	coiled-coil domain containing 155	155						chromosome, telomeric region (GO:0000781)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(10)|ovary(1)|stomach(1)	22						CCCCAGACCCGAGCTGTACCT	0.637																																						ENST00000447857.3																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(10)|ovary(1)|stomach(1)	22						c.(463-465)Gag>Aag		coiled-coil domain containing 155							102.0	117.0	112.0					19																	49900970		1993	4153	6146	SO:0001583	missense	147872					integral to membrane	calcium ion binding	g.chr19:49900970G>A		CCDS46140.1	19q13.33	2014-01-21			ENSG00000161609	ENSG00000161609			26520	protein-coding gene	gene with protein product							Standard	NM_144688		Approved	FLJ32658, KASH5	uc002pnm.2	Q8N6L0	OTTHUMG00000183170	ENST00000447857.3:c.463G>A	19.37:g.49900970G>A	ENSP00000404220:p.Glu155Lys		Somatic					p.E155K	NM_144688.4	NP_653289.3	WXS	Illumina GAIIx	Phase_I	Q8N6L0	CC155_HUMAN			6	668	+			155					Q96MC3	Missense_Mutation	SNP	ENST00000447857.3	37	c.463G>A	CCDS46140.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.151096	0.78001	.	.	ENSG00000161609	ENST00000447857	T	0.34667	1.35	4.76	4.76	0.60689	.	0.308243	0.27710	N	0.018166	T	0.56455	0.1986	M	0.73962	2.25	0.35423	D	0.793379	D;D;D	0.89917	0.999;0.999;1.0	D;D;P	0.78314	0.991;0.991;0.839	T	0.60772	-0.7197	10	0.21014	T	0.42	0.2795	13.447	0.61146	0.0:0.0:1.0:0.0	.	155;155;235	C9JGW3;Q8N6L0;Q6ZRK4	.;CC155_HUMAN;.	K	155	ENSP00000404220:E155K	ENSP00000404220:E155K	E	+	1	0	CCDC155	54592782	0.998000	0.40836	0.982000	0.44146	0.605000	0.37080	4.424000	0.59868	2.632000	0.89209	0.561000	0.74099	GAG		0.637	CCDC155-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465436.2	NM_144688		5	266	0	0	0	1	0	5	266				
FAT1	2195	broad.mit.edu	37	4	187630625	187630625	+	Missense_Mutation	SNP	T	T	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr4:187630625T>C	ENST00000441802.2	-	2	566	c.357A>G	c.(355-357)atA>atG	p.I119M		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	119	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GTGCTTTCACTATCAATGTGT	0.408										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	ENST00000441802.2																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						c.(355-357)atA>atG		FAT atypical cadherin 1							125.0	125.0	125.0					4																	187630625		1978	4162	6140	SO:0001583	missense	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187630625T>C	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.357A>G	4.37:g.187630625T>C	ENSP00000406229:p.Ile119Met	HNSCC(5;0.00058)	Somatic					p.I119M	NM_005245.3	NP_005236.2	WXS	Illumina GAIIx	Phase_I	Q14517	FAT1_HUMAN			2	566	-			119			Cadherin 1.			Missense_Mutation	SNP	ENST00000441802.2	37	c.357A>G	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	T	7.720	0.697069	0.15106	.	.	ENSG00000083857	ENST00000441802;ENST00000260147;ENST00000509647	T;T	0.61510	0.1;0.1	5.0	-5.92	0.02261	Cadherin (3);Cadherin-like (1);	0.258674	0.43260	D	0.000583	T	0.39835	0.1093	L	0.45698	1.435	0.26769	N	0.969839	B	0.32010	0.351	B	0.38056	0.264	T	0.28396	-1.0045	10	0.41790	T	0.15	.	1.6897	0.02849	0.3799:0.0814:0.3049:0.2338	.	119	Q14517	FAT1_HUMAN	M	119	ENSP00000406229:I119M;ENSP00000423736:I119M	ENSP00000260147:I119M	I	-	3	3	FAT1	187867619	0.210000	0.23517	0.249000	0.24280	0.367000	0.29736	-0.393000	0.07305	-0.557000	0.06126	0.482000	0.46254	ATA		0.408	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		3	342	0	0	0	1	0	3	342				
NUP210L	91181	broad.mit.edu	37	1	154067513	154067513	+	Silent	SNP	C	C	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr1:154067513C>T	ENST00000368559.3	-	15	2156	c.2085G>A	c.(2083-2085)gcG>gcA	p.A695A	NUP210L_ENST00000271854.3_Silent_p.A695A	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	695					Sertoli cell development (GO:0060009)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			CTGTCTTCTCCGCATTCAATT	0.473																																						ENST00000368559.3																			0				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80						c.(2083-2085)gcG>gcA		nucleoporin 210kDa-like							86.0	80.0	82.0					1																	154067513		1845	4097	5942	SO:0001819	synonymous_variant	91181					integral to membrane		g.chr1:154067513C>T	AK125924	CCDS41399.1, CCDS53370.1	1q21.3	2008-02-05			ENSG00000143552	ENSG00000143552			29915	protein-coding gene	gene with protein product							Standard	NM_207308		Approved		uc001fdw.3	Q5VU65	OTTHUMG00000035852	ENST00000368559.3:c.2085G>A	1.37:g.154067513C>T			Somatic				NUP210L_ENST00000271854.3_Silent_p.A695A	p.A695A	NM_207308.2	NP_997191.2	WXS	Illumina GAIIx	Phase_I	Q5VU65	P210L_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)		15	2156	-	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		695					E7EP56|Q5T4L7|Q6ZRN1|Q6ZRT4|Q6ZU81|Q8NDI6|Q9UF31	Silent	SNP	ENST00000368559.3	37	c.2085G>A	CCDS41399.1																																																																																				0.473	NUP210L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087270.3	NM_207308		5	30	0	0	0	1	0	5	30				
SALL2	6297	broad.mit.edu	37	14	22005036	22005036	+	Missense_Mutation	SNP	C	C	T	rs201628931		TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr14:22005036C>T	ENST00000327430.3	-	1	314	c.20G>A	c.(19-21)cGg>cAg	p.R7Q	SALL2_ENST00000317492.5_Missense_Mutation_p.R7Q	NM_005407.1	NP_005398.1	Q9Y467	SALL2_HUMAN	spalt-like transcription factor 2	7					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2)	43	all_cancers(95;0.000662)			GBM - Glioblastoma multiforme(265;0.0151)		TTGGGGTTTCCGCTGCTTTCG	0.627																																						ENST00000327430.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2)	43						c.(19-21)cGg>cAg		spalt-like transcription factor 2							94.0	89.0	91.0					14																	22005036		2203	4300	6503	SO:0001583	missense	6297						DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr14:22005036C>T	AB002358	CCDS32045.1	14q11.1-q12.1	2013-10-17	2013-10-17		ENSG00000165821	ENSG00000165821		"""Zinc fingers, C2H2-type"""	10526	protein-coding gene	gene with protein product		602219	"""sal (Drosophila)-like 2"", ""sal-like 2 (Drosophila)"""			8975705	Standard	XM_005267983		Approved	KIAA0360, Hsal2, ZNF795	uc001wbe.3	Q9Y467	OTTHUMG00000168826	ENST00000327430.3:c.20G>A	14.37:g.22005036C>T	ENSP00000333537:p.Arg7Gln		Somatic				SALL2_ENST00000317492.5_Missense_Mutation_p.R7Q	p.R7Q	NM_005407.1	NP_005398.1	WXS	Illumina GAIIx	Phase_I	Q9Y467	SALL2_HUMAN		GBM - Glioblastoma multiforme(265;0.0151)	1	314	-	all_cancers(95;0.000662)		7					B2RMX6|B9EGK8|Q8N656|Q9Y4G1	Missense_Mutation	SNP	ENST00000327430.3	37	c.20G>A	CCDS32045.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.7|20.7	4.039499|4.039499	0.75617|0.75617	.|.	.|.	ENSG00000165821|ENSG00000165821	ENST00000546363|ENST00000327430;ENST00000317492;ENST00000541876	.|T;T	.|0.33654	.|3.78;1.4	4.9|4.9	4.01|4.01	0.46588|0.46588	.|.	.|0.000000	.|0.33813	.|U	.|0.004534	T|T	0.41834|0.41834	0.1176|0.1176	L|L	0.27053|0.27053	0.805|0.805	0.80722|0.80722	D|D	1|1	.|D;P	.|0.64830	.|0.994;0.663	.|D;B	.|0.62955	.|0.909;0.046	T|T	0.32877|0.32877	-0.9890|-0.9890	5|10	.|0.59425	.|D	.|0.04	-4.4238|-4.4238	10.8488|10.8488	0.46759|0.46759	0.0:0.9096:0.0:0.0904|0.0:0.9096:0.0:0.0904	.|.	.|7;7	.|F5GY43;Q9Y467	.|.;SALL2_HUMAN	R|Q	1|7	.|ENSP00000333537:R7Q;ENSP00000320536:R7Q	.|ENSP00000320536:R7Q	G|R	-|-	1|2	0|0	SALL2|SALL2	21074876|21074876	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	3.918000|3.918000	0.56432|0.56432	1.189000|1.189000	0.43028|0.43028	0.655000|0.655000	0.94253|0.94253	GGA|CGG		0.627	SALL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401242.1	NM_005407		4	330	0	0	0	1	0	4	330				
DEFB116	245930	broad.mit.edu	37	20	29891091	29891091	+	Missense_Mutation	SNP	G	G	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr20:29891091G>T	ENST00000400549.1	-	2	232	c.233C>A	c.(232-234)tCt>tAt	p.S78Y		NM_001037731.1	NP_001032820.1	Q30KQ4	DB116_HUMAN	defensin, beta 116	78					defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)				kidney(2)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)	12	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			CACATTTTTAGAACTGGTTAT	0.403																																						ENST00000400549.1																			0				kidney(2)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)	12						c.(232-234)tCt>tAt		defensin, beta 116							324.0	293.0	303.0					20																	29891091		1854	4104	5958	SO:0001583	missense	245930				defense response to bacterium	extracellular region		g.chr20:29891091G>T	DQ012020	CCDS42860.1	20q11.21	2008-07-17			ENSG00000215545	ENSG00000215545		"""Defensins, beta"""	18097	protein-coding gene	gene with protein product	"""defensin, beta 16"""					11854508, 16033865	Standard	NM_001037731		Approved	DEFB-16	uc010ztm.2	Q30KQ4	OTTHUMG00000159285	ENST00000400549.1:c.233C>A	20.37:g.29891091G>T	ENSP00000383396:p.Ser78Tyr		Somatic					p.S78Y	NM_001037731.1	NP_001032820.1	WXS	Illumina GAIIx	Phase_I	Q30KQ4	DB116_HUMAN	Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)		2	232	-	all_hematologic(12;0.158)		78						Missense_Mutation	SNP	ENST00000400549.1	37	c.233C>A	CCDS42860.1	.	.	.	.	.	.	.	.	.	.	G	8.508	0.865913	0.17250	.	.	ENSG00000215545	ENST00000400549	T	0.16457	2.34	3.32	-1.15	0.09709	.	.	.	.	.	T	0.08935	0.0221	N	0.19112	0.55	0.09310	N	1	B	0.17038	0.02	B	0.08055	0.003	T	0.32455	-0.9906	9	0.72032	D	0.01	.	2.7313	0.05228	0.2344:0.0:0.375:0.3906	.	78	Q30KQ4	DB116_HUMAN	Y	78	ENSP00000383396:S78Y	ENSP00000383396:S78Y	S	-	2	0	DEFB116	29354752	0.364000	0.24997	0.000000	0.03702	0.003000	0.03518	1.628000	0.37060	-0.179000	0.10654	-0.890000	0.02929	TCT		0.403	DEFB116-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354403.1	NM_001037731		127	1703	1	0	5.19286e-32	1	6.10512e-32	127	1703				
SLC22A14	9389	broad.mit.edu	37	3	38347690	38347690	+	Missense_Mutation	SNP	C	C	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr3:38347690C>T	ENST00000273173.4	+	1	264	c.173C>T	c.(172-174)gCg>gTg	p.A58V	RNU6-235P_ENST00000362644.1_RNA|SLC22A14_ENST00000448498.1_Missense_Mutation_p.A58V	NM_004803.3	NP_004794.2	Q9Y267	S22AE_HUMAN	solute carrier family 22, member 14	58					organic cation transport (GO:0015695)	integral component of plasma membrane (GO:0005887)	organic cation transmembrane transporter activity (GO:0015101)			central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696)		CTCCTGGATGCGGTGGGGGAG	0.537																																						ENST00000273173.4																			0				central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	21						c.(172-174)gCg>gTg		solute carrier family 22, member 14							171.0	140.0	150.0					3																	38347690		2203	4300	6503	SO:0001583	missense	9389					integral to plasma membrane	organic cation transmembrane transporter activity	g.chr3:38347690C>T	AB011082	CCDS2677.1	3p21.3	2013-05-22	2008-01-11	2003-10-15	ENSG00000144671	ENSG00000144671		"""Solute carriers"""	8495	protein-coding gene	gene with protein product		604048	"""organic cationic transporter-like 4"", ""solute carrier family 22 (organic cation transporter), member 14"""	ORCTL4		10072596	Standard	NM_004803		Approved	OCTL2	uc003cib.2	Q9Y267	OTTHUMG00000131082	ENST00000273173.4:c.173C>T	3.37:g.38347690C>T	ENSP00000273173:p.Ala58Val		Somatic				SLC22A14_ENST00000448498.1_Missense_Mutation_p.A58V	p.A58V	NM_004803.3	NP_004794.2	WXS	Illumina GAIIx	Phase_I	Q9Y267	S22AE_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696)	1	264	+			58					A0AVS9|A1L4H6|B2RCX3|Q6DJT3	Missense_Mutation	SNP	ENST00000273173.4	37	c.173C>T	CCDS2677.1	.	.	.	.	.	.	.	.	.	.	C	9.574	1.121750	0.20877	.	.	ENSG00000144671	ENST00000448498;ENST00000423219;ENST00000273173	T;T	0.36699	1.24;1.24	5.62	-1.57	0.08506	.	0.883950	0.10059	N	0.721161	T	0.22589	0.0545	L	0.28608	0.87	0.09310	N	1	B	0.31859	0.343	B	0.26517	0.07	T	0.13019	-1.0525	10	0.28530	T	0.3	.	10.25	0.43364	0.0:0.5054:0.0:0.4946	.	58	Q9Y267	S22AE_HUMAN	V	58	ENSP00000396283:A58V;ENSP00000273173:A58V	ENSP00000273173:A58V	A	+	2	0	SLC22A14	38322694	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.248000	0.08854	-0.566000	0.06054	-0.793000	0.03317	GCG		0.537	SLC22A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253742.3	NM_004803		5	216	0	0	0	1	0	5	216				
DMBT1	1755	broad.mit.edu	37	10	124380739	124380739	+	Silent	SNP	G	G	A	rs374741257		TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr10:124380739G>A	ENST00000338354.3	+	41	5170	c.5064G>A	c.(5062-5064)tcG>tcA	p.S1688S	DMBT1_ENST00000344338.3_Silent_p.S1678S|DMBT1_ENST00000368955.3_Silent_p.S1678S|DMBT1_ENST00000330163.4_Silent_p.S1060S|DMBT1_ENST00000368956.2_Silent_p.S1060S|DMBT1_ENST00000368909.3_Silent_p.S1688S|DMBT1_ENST00000359586.6_Intron			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	1688	SRCR 13. {ECO:0000255|PROSITE- ProRule:PRU00196}.				defense response to virus (GO:0051607)|epithelial cell differentiation (GO:0030855)|induction of bacterial agglutination (GO:0043152)|innate immune response (GO:0045087)|inner cell mass cell proliferation (GO:0001833)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of epithelial cell differentiation (GO:0030858)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|phagocytic vesicle membrane (GO:0030670)|proteinaceous extracellular matrix (GO:0005578)|zymogen granule membrane (GO:0042589)	calcium-dependent protein binding (GO:0048306)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|zymogen binding (GO:0035375)			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GGGCCATGTCGGCCCCAGGAA	0.612																																					Ovarian(182;93 2026 18125 22222 38972)	ENST00000338354.3																			0				breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72						c.(5062-5064)tcG>tcA		deleted in malignant brain tumors 1		G	,,	1,3943		0,1,1971	156.0	159.0	158.0		3180,5064,5034	-7.6	0.0	10		158	1,8323		0,1,4161	no	coding-synonymous,coding-synonymous,coding-synonymous	DMBT1	NM_004406.2,NM_007329.2,NM_017579.2	,,	0,2,6132	AA,AG,GG		0.012,0.0254,0.0163	,,	1060/1786,1688/2414,1678/2404	124380739	2,12266	1972	4162	6134	SO:0001819	synonymous_variant	1755				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding	g.chr10:124380739G>A		CCDS44490.1, CCDS44491.1, CCDS44492.1	10q25.3-q26.1	2008-08-01			ENSG00000187908	ENSG00000187908			2926	protein-coding gene	gene with protein product		601969				9288095, 17548659	Standard	NM_004406		Approved	GP340, muclin	uc001lgk.1	Q9UGM3	OTTHUMG00000019185	ENST00000338354.3:c.5064G>A	10.37:g.124380739G>A			Somatic				DMBT1_ENST00000330163.4_Silent_p.S1060S|DMBT1_ENST00000344338.3_Silent_p.S1678S|DMBT1_ENST00000368956.2_Silent_p.S1060S|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000368909.3_Silent_p.S1688S|DMBT1_ENST00000368955.3_Silent_p.S1678S	p.S1688S			WXS	Illumina GAIIx	Phase_I	Q9UGM3	DMBT1_HUMAN			41	5170	+		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)	1688			SRCR 13.		A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	Silent	SNP	ENST00000338354.3	37	c.5064G>A																																																																																					0.612	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050792.2	NM_004406		7	333	0	0	0	1	0	7	333				
FAM193A	8603	broad.mit.edu	37	4	2698154	2698154	+	Missense_Mutation	SNP	C	C	A			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr4:2698154C>A	ENST00000324666.5	+	16	2819	c.2468C>A	c.(2467-2469)aCc>aAc	p.T823N	FAM193A_ENST00000505311.1_Missense_Mutation_p.T823N|FAM193A_ENST00000382839.3_Missense_Mutation_p.T823N|FAM193A_ENST00000545951.1_Missense_Mutation_p.T823N|FAM193A_ENST00000502458.1_Missense_Mutation_p.T845N	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN	family with sequence similarity 193, member A	823										NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						TTACGGCTGACCAAGAGGAAA	0.418																																						ENST00000324666.5																			0				NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						c.(2467-2469)aCc>aAc		family with sequence similarity 193, member A							106.0	104.0	105.0					4																	2698154		2203	4300	6503	SO:0001583	missense	8603							g.chr4:2698154C>A	AB000459	CCDS33943.1, CCDS58874.1, CCDS58875.1, CCDS58876.1	4p16.3	2009-09-04	2009-09-04	2009-09-04					16822	protein-coding gene	gene with protein product			"""chromosome 4 open reading frame 8"""	C4orf8		9734812	Standard	NR_046335		Approved	RES4-22	uc010ick.3	P78312		ENST00000324666.5:c.2468C>A	4.37:g.2698154C>A	ENSP00000324587:p.Thr823Asn		Somatic				FAM193A_ENST00000382839.3_Missense_Mutation_p.T823N|FAM193A_ENST00000502458.1_Missense_Mutation_p.T845N|FAM193A_ENST00000505311.1_Missense_Mutation_p.T823N|FAM193A_ENST00000545951.1_Missense_Mutation_p.T823N	p.T823N	NM_001256666.1	NP_001243595.1	WXS	Illumina GAIIx	Phase_I	P78312	F193A_HUMAN			16	2819	+			823					B7ZM85|B9EGR0|E9PFA1|O43607|P78311|P78313|Q9UEG8	Missense_Mutation	SNP	ENST00000324666.5	37	c.2468C>A	CCDS58875.1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.862603	0.91511	.	.	ENSG00000125386	ENST00000382839;ENST00000324666;ENST00000545951;ENST00000502458;ENST00000513350	T;T;T;T;T	0.37411	1.21;1.62;1.2;1.21;1.21	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.60495	0.2273	M	0.71036	2.16	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.999;0.999;0.997;0.999	T	0.59451	-0.7452	10	0.41790	T	0.15	-30.4113	17.8501	0.88744	0.0:1.0:0.0:0.0	.	823;845;823;845;823	B9EGR0;E9PFA1;P78312;B7ZM85;P78312-2	.;.;F193A_HUMAN;.;.	N	823;823;823;845;677	ENSP00000372290:T823N;ENSP00000324587:T823N;ENSP00000443617:T823N;ENSP00000427505:T845N;ENSP00000427260:T677N	ENSP00000324587:T823N	T	+	2	0	FAM193A	2667952	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.646000	0.83445	2.464000	0.83262	0.603000	0.83216	ACC		0.418	FAM193A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000360903.1	NM_003704		4	145	1	0	0.00909568	1	0.00947694	4	145				
DEPDC7	91614	broad.mit.edu	37	11	33050304	33050304	+	Missense_Mutation	SNP	G	G	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr11:33050304G>T	ENST00000241051.3	+	4	840	c.748G>T	c.(748-750)Gat>Tat	p.D250Y	DEPDC7_ENST00000311388.3_Missense_Mutation_p.D241Y	NM_001077242.1	NP_001070710.1	Q96QD5	DEPD7_HUMAN	DEP domain containing 7	250					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)				endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	17						TAACTATCTGGATCGAGGGAT	0.403																																						ENST00000311388.3																			0				endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	17						c.(721-723)Gat>Tat		DEP domain containing 7							119.0	113.0	115.0					11																	33050304		1908	4132	6040	SO:0001583	missense	91614				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr11:33050304G>T		CCDS41632.1, CCDS41633.1	11p13	2006-03-24			ENSG00000121690	ENSG00000121690			29899	protein-coding gene	gene with protein product		612294				10568747	Standard	NM_001077242		Approved		uc001mub.3	Q96QD5	OTTHUMG00000166242	ENST00000241051.3:c.748G>T	11.37:g.33050304G>T	ENSP00000241051:p.Asp250Tyr		Somatic				DEPDC7_ENST00000241051.3_Missense_Mutation_p.D250Y	p.D241Y	NM_139160.2	NP_631899.2	WXS	Illumina GAIIx	Phase_I	Q96QD5	DEPD7_HUMAN			4	1097	+			250					G5E941|Q8N602|Q8NCU9|Q9UGK5	Missense_Mutation	SNP	ENST00000241051.3	37	c.721G>T	CCDS41632.1	.	.	.	.	.	.	.	.	.	.	G	19.83	3.899934	0.72754	.	.	ENSG00000121690	ENST00000241051;ENST00000311388	T;T	0.16743	2.32;2.34	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.47746	0.1462	M	0.81341	2.54	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	T	0.20306	-1.0279	10	0.38643	T	0.18	-22.4418	20.6593	0.99626	0.0:0.0:1.0:0.0	.	241;250	G5E941;Q96QD5	.;DEPD7_HUMAN	Y	250;241	ENSP00000241051:D250Y;ENSP00000308971:D241Y	ENSP00000241051:D250Y	D	+	1	0	DEPDC7	33006880	1.000000	0.71417	1.000000	0.80357	0.526000	0.34562	8.983000	0.93477	2.885000	0.99019	0.655000	0.94253	GAT		0.403	DEPDC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388655.1	NM_139160		11	143	1	0	7.03913e-09	1	7.90199e-09	11	143				
PCLO	27445	broad.mit.edu	37	7	82545232	82545232	+	Missense_Mutation	SNP	T	T	G			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr7:82545232T>G	ENST00000333891.9	-	7	12407	c.12070A>C	c.(12070-12072)Agt>Cgt	p.S4024R	PCLO_ENST00000423517.2_Missense_Mutation_p.S4024R|PCLO_ENST00000437081.1_Missense_Mutation_p.S744R	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GATATTGGACTGCTTGCCATG	0.383																																						ENST00000423517.2																			0				breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						c.(12070-12072)Agt>Cgt		piccolo presynaptic cytomatrix protein							203.0	190.0	195.0					7																	82545232		1935	4142	6077	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82545232T>G	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.12070A>C	7.37:g.82545232T>G	ENSP00000334319:p.Ser4024Arg		Somatic				PCLO_ENST00000333891.8_Missense_Mutation_p.S4024R|PCLO_ENST00000437081.1_Missense_Mutation_p.S744R	p.S4024R	NM_014510.2	NP_055325.2	WXS	Illumina GAIIx	Phase_I	Q9Y6V0	PCLO_HUMAN			7	12407	-			3955						Missense_Mutation	SNP	ENST00000333891.9	37	c.12070A>C	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	T	17.84	3.488103	0.64074	.	.	ENSG00000186472	ENST00000333891;ENST00000423517;ENST00000437081	T;T	0.36340	1.26;1.27	5.85	5.85	0.93711	.	.	.	.	.	T	0.61862	0.2381	M	0.73962	2.25	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.91635	0.996;0.999;0.999	T	0.65813	-0.6077	9	0.87932	D	0	.	16.2271	0.82306	0.0:0.0:0.0:1.0	.	3955;4024;4024	Q9Y6V0;Q9Y6V0-5;Q9Y6V0-6	PCLO_HUMAN;.;.	R	4024;4024;744	ENSP00000334319:S4024R;ENSP00000388393:S4024R	ENSP00000334319:S4024R	S	-	1	0	PCLO	82383168	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.040000	0.89188	2.234000	0.73211	0.460000	0.39030	AGT		0.383	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		5	471	0	0	0	1	0	5	471				
ATP6V0A1	535	broad.mit.edu	37	17	40639318	40639318	+	Missense_Mutation	SNP	T	T	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr17:40639318T>C	ENST00000343619.4	+	10	1079	c.956T>C	c.(955-957)tTg>tCg	p.L319S	ATP6V0A1_ENST00000537728.1_Missense_Mutation_p.L276S|ATP6V0A1_ENST00000393829.2_Missense_Mutation_p.L319S|ATP6V0A1_ENST00000585525.1_Missense_Mutation_p.L276S|ATP6V0A1_ENST00000264649.6_Missense_Mutation_p.L326S|ATP6V0A1_ENST00000546249.1_Missense_Mutation_p.L319S|ATP6V0A1_ENST00000544137.1_Intron	NM_001130021.1	NP_001123493.1	Q93050	VPP1_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a1	319					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220)	ATPase binding (GO:0051117)|hydrogen ion transmembrane transporter activity (GO:0015078)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|urinary_tract(3)	26		all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254)		BRCA - Breast invasive adenocarcinoma(366;0.137)		CAGAAATGCTTGATTGCAGAG	0.517																																						ENST00000343619.4																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|urinary_tract(3)	26						c.(955-957)tTg>tCg		ATPase, H+ transporting, lysosomal V0 subunit a1							155.0	133.0	141.0					17																	40639318		2203	4300	6503	SO:0001583	missense	535				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytoplasmic vesicle membrane|endosome membrane|Golgi apparatus|integral to membrane|melanosome|nucleus|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity	g.chr17:40639318T>C	U73006	CCDS11426.1, CCDS45683.1, CCDS45684.1	17q21	2010-04-21	2006-01-20	2002-05-10	ENSG00000033627	ENSG00000033627		"""ATPases / V-type"""	865	protein-coding gene	gene with protein product		192130	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump) non-catalytic accessory protein 1A (110/116kD)"", ""ATPase, H+ transporting, lysosomal V0 subunit a isoform 1"", ""ATPase, H+ transporting, lysosomal V0 subunit A1"""	VPP1, ATP6N1, ATP6N1A		7774924	Standard	NM_001130020		Approved	a1, Vph1, Stv1	uc002hzs.3	Q93050		ENST00000343619.4:c.956T>C	17.37:g.40639318T>C	ENSP00000342951:p.Leu319Ser		Somatic				ATP6V0A1_ENST00000264649.6_Missense_Mutation_p.L326S|ATP6V0A1_ENST00000585525.1_Missense_Mutation_p.L276S|ATP6V0A1_ENST00000544137.1_Intron|ATP6V0A1_ENST00000537728.1_Missense_Mutation_p.L276S|ATP6V0A1_ENST00000393829.2_Missense_Mutation_p.L319S|ATP6V0A1_ENST00000546249.1_Missense_Mutation_p.L319S	p.L319S	NM_001130021.1	NP_001123493.1	WXS	Illumina GAIIx	Phase_I	Q93050	VPP1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.137)	10	1079	+		all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254)	319					B7Z3B7|Q8N5G7|Q9NSX0	Missense_Mutation	SNP	ENST00000343619.4	37	c.956T>C	CCDS45684.1	.	.	.	.	.	.	.	.	.	.	T	20.3	3.967301	0.74131	.	.	ENSG00000033627	ENST00000343619;ENST00000546249;ENST00000393829;ENST00000264649;ENST00000537728	D;D;D;D;D	0.90504	-2.68;-2.68;-2.68;-2.68;-2.68	5.54	5.54	0.83059	.	0.072497	0.56097	N	0.000028	D	0.94798	0.8320	M	0.85099	2.735	0.80722	D	1	P;B;P;B;B	0.51537	0.946;0.379;0.893;0.147;0.046	P;P;P;B;B	0.57548	0.687;0.469;0.823;0.153;0.073	D	0.95502	0.8578	10	0.87932	D	0	-8.6862	15.6544	0.77121	0.0:0.0:0.0:1.0	.	276;276;326;319;319	B7Z641;B7Z2A9;B7Z3B7;Q93050;Q93050-1	.;.;.;VPP1_HUMAN;.	S	319;319;319;326;276	ENSP00000342951:L319S;ENSP00000444676:L319S;ENSP00000377415:L319S;ENSP00000264649:L326S;ENSP00000443991:L276S	ENSP00000264649:L326S	L	+	2	0	ATP6V0A1	37892844	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	8.027000	0.88791	2.094000	0.63399	0.533000	0.62120	TTG		0.517	ATP6V0A1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450364.1	NM_001130020		12	257	0	0	0	1	0	12	257				
PPARG	5468	broad.mit.edu	37	3	12421288	12421288	+	Missense_Mutation	SNP	C	C	G			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr3:12421288C>G	ENST00000287820.6	+	2	289	c.168C>G	c.(166-168)caC>caG	p.H56Q	PPARG_ENST00000397000.1_Missense_Mutation_p.H28Q|PPARG_ENST00000397012.2_Missense_Mutation_p.H28Q|PPARG_ENST00000397015.2_Missense_Mutation_p.H28Q|PPARG_ENST00000397010.2_Missense_Mutation_p.H28Q|PPARG_ENST00000539812.1_Missense_Mutation_p.H26Q|PPARG_ENST00000397026.2_Missense_Mutation_p.H34Q|PPARG_ENST00000309576.6_Missense_Mutation_p.H28Q	NM_015869.4	NP_056953.2	P37231	PPARG_HUMAN	peroxisome proliferator-activated receptor gamma	56					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|brown fat cell differentiation (GO:0050873)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|cellular response to insulin stimulus (GO:0032869)|cellular response to lithium ion (GO:0071285)|epithelial cell differentiation (GO:0030855)|fatty acid oxidation (GO:0019395)|G-protein coupled receptor signaling pathway (GO:0007186)|gene expression (GO:0010467)|glucose homeostasis (GO:0042593)|heart development (GO:0007507)|innate immune response (GO:0045087)|lipid homeostasis (GO:0055088)|lipid metabolic process (GO:0006629)|lipoprotein transport (GO:0042953)|long-chain fatty acid transport (GO:0015909)|low-density lipoprotein particle receptor biosynthetic process (GO:0045713)|monocyte differentiation (GO:0030224)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of cell growth (GO:0030308)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of interferon-gamma-mediated signaling pathway (GO:0060336)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of receptor biosynthetic process (GO:0010871)|negative regulation of sequestering of triglyceride (GO:0010891)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of telomerase activity (GO:0051974)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|organ regeneration (GO:0031100)|peroxisome proliferator activated receptor signaling pathway (GO:0035357)|placenta development (GO:0001890)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of fatty acid oxidation (GO:0046321)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of blood pressure (GO:0008217)|regulation of cholesterol transporter activity (GO:0060694)|regulation of transcription involved in cell fate commitment (GO:0060850)|response to caffeine (GO:0031000)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to lipid (GO:0033993)|response to low-density lipoprotein particle (GO:0055098)|response to nutrient (GO:0007584)|response to retinoic acid (GO:0032526)|response to vitamin A (GO:0033189)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|white fat cell differentiation (GO:0050872)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	activating transcription factor binding (GO:0033613)|arachidonic acid binding (GO:0050544)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|prostaglandin receptor activity (GO:0004955)|retinoid X receptor binding (GO:0046965)|RNA polymerase II regulatory region DNA binding (GO:0001012)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)		PAX8/PPARG(117)	breast(2)|endometrium(4)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20					Balsalazide(DB01014)|Bezafibrate(DB01393)|Glipizide(DB01067)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Mesalazine(DB00244)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rosiglitazone(DB00412)|Sulfasalazine(DB00795)|Telmisartan(DB00966)	TGGAAGACCACTCCCACTCCT	0.458			T	PAX8	follicular thyroid		"""Insulin resistance ; lipodystrophy, familial partial L;diabetes mellitus, insulin-resistantI, with acanthosis nigricans and hypertension"""																															ENST00000397026.2				Dom	yes		3	3p25	5468	T	"""peroxisome proliferative activated receptor, gamma"""	yes	"""Insulin resistance ; lipodystrophy, familial partial L;diabetes mellitus, insulin-resistantI, with acanthosis nigricans and hypertension"""	E	PAX8		follicular thyroid	PAX8/PPARG(117)	0				breast(2)|endometrium(4)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20						c.(100-102)caC>caG		peroxisome proliferator-activated receptor gamma	Atorvastatin(DB01076)|Icosapent(DB00159)|Pioglitazone(DB01132)|Rosiglitazone(DB00412)|Troglitazone(DB00197)						187.0	161.0	170.0					3																	12421288		2203	4300	6503	SO:0001583	missense	5468				activation of caspase activity|cell fate commitment|cell maturation|cellular response to insulin stimulus|epithelial cell differentiation|glucose homeostasis|induction of apoptosis|innate immune response|lipid homeostasis|lipoprotein transport|long-chain fatty acid transport|low-density lipoprotein particle receptor biosynthetic process|monocyte differentiation|negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|placenta development|positive regulation of fat cell differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to lipid|response to low-density lipoprotein particle stimulus|white fat cell differentiation	cytosol|nucleoplasm	activating transcription factor binding|arachidonic acid binding|drug binding|enzyme binding|prostaglandin receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr3:12421288C>G	X90563	CCDS2609.1, CCDS2610.2	3p25	2013-01-16	2006-10-17		ENSG00000132170	ENSG00000132170		"""Nuclear hormone receptors"""	9236	protein-coding gene	gene with protein product		601487	"""peroxisome proliferative activated receptor, gamma"""			7862171, 9750197	Standard	NM_005037		Approved	PPARG1, PPARG2, NR1C3, PPARgamma	uc003bwx.3	P37231	OTTHUMG00000129764	ENST00000287820.6:c.168C>G	3.37:g.12421288C>G	ENSP00000287820:p.His56Gln		Somatic				PPARG_ENST00000397012.2_Missense_Mutation_p.H28Q|PPARG_ENST00000397015.2_Missense_Mutation_p.H28Q|PPARG_ENST00000397000.1_Missense_Mutation_p.H28Q|PPARG_ENST00000397010.2_Missense_Mutation_p.H28Q|PPARG_ENST00000539812.1_Missense_Mutation_p.H26Q|PPARG_ENST00000309576.6_Missense_Mutation_p.H28Q|PPARG_ENST00000287820.6_Missense_Mutation_p.H56Q	p.H34Q			WXS	Illumina GAIIx	Phase_I	P37231	PPARG_HUMAN			4	485	+			56					A8K3G6|B5BUA1|O00684|O00710|O14515|Q0QJH8|Q15178|Q15179|Q15180|Q15832|Q86U60|Q96J12	Missense_Mutation	SNP	ENST00000287820.6	37	c.102C>G	CCDS2609.1	.	.	.	.	.	.	.	.	.	.	C	16.08	3.021070	0.54576	.	.	ENSG00000132170	ENST00000397010;ENST00000397029;ENST00000309576;ENST00000397015;ENST00000455517;ENST00000397012;ENST00000397026;ENST00000438682;ENST00000397000;ENST00000539812;ENST00000287820	T;T;T;T;T;T;T;T;T;T;T	0.44482	0.92;0.92;0.92;0.92;0.92;0.92;0.92;0.92;0.92;0.92;0.92	5.8	3.03	0.35002	.	0.350663	0.31760	N	0.007110	T	0.33904	0.0879	L	0.47716	1.5	0.35792	D	0.822481	P;B;P	0.44521	0.837;0.001;0.75	P;B;B	0.44394	0.448;0.005;0.248	T	0.34004	-0.9846	10	0.12103	T	0.63	.	8.0288	0.30453	0.0:0.6585:0.1137:0.2277	.	56;42;28	P37231;Q4W4C7;E9PFX5	PPARG_HUMAN;.;.	Q	28;28;28;28;28;28;34;28;28;26;56	ENSP00000380205:H28Q;ENSP00000380224:H28Q;ENSP00000312472:H28Q;ENSP00000380210:H28Q;ENSP00000411931:H28Q;ENSP00000380207:H28Q;ENSP00000380221:H34Q;ENSP00000392285:H28Q;ENSP00000380196:H28Q;ENSP00000438940:H26Q;ENSP00000287820:H56Q	ENSP00000287820:H56Q	H	+	3	2	PPARG	12396288	1.000000	0.71417	0.980000	0.43619	0.798000	0.45092	1.219000	0.32479	0.800000	0.34041	-0.237000	0.12165	CAC		0.458	PPARG-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251979.2	NM_005037		4	276	0	0	0	1	0	4	276				
LDHAL6A	160287	broad.mit.edu	37	11	18497053	18497053	+	Silent	SNP	T	T	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr11:18497053T>C	ENST00000280706.2	+	4	1256	c.459T>C	c.(457-459)ttT>ttC	p.F153F	LDHAL6A_ENST00000396213.3_Silent_p.F153F|TSG101_ENST00000536719.1_Intron	NM_144972.4	NP_659409.2	Q6ZMR3	LDH6A_HUMAN	lactate dehydrogenase A-like 6A	153					cellular carbohydrate metabolic process (GO:0044262)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	L-lactate dehydrogenase activity (GO:0004459)			large_intestine(3)|lung(9)|urinary_tract(1)	13						TGAGTGGATTTCCCAAAAACC	0.383																																						ENST00000280706.2																			0				large_intestine(3)|lung(9)|urinary_tract(1)	13						c.(457-459)ttT>ttC		lactate dehydrogenase A-like 6A	NADH(DB00157)						196.0	189.0	192.0					11																	18497053		2199	4293	6492	SO:0001819	synonymous_variant	160287				glycolysis	cytoplasm	binding|L-lactate dehydrogenase activity	g.chr11:18497053T>C	AK131523	CCDS7841.1	11p15.1	2011-01-27			ENSG00000166800	ENSG00000166800			28335	protein-coding gene	gene with protein product						12477932	Standard	NM_001144071		Approved	MGC23940, LDH6A	uc001mop.1	Q6ZMR3	OTTHUMG00000167724	ENST00000280706.2:c.459T>C	11.37:g.18497053T>C			Somatic				TSG101_ENST00000536719.1_Intron|LDHAL6A_ENST00000396213.3_Silent_p.F153F	p.F153F	NM_144972.4	NP_659409.2	WXS	Illumina GAIIx	Phase_I	Q6ZMR3	LDH6A_HUMAN			4	1256	+			153					D3DQY5	Silent	SNP	ENST00000280706.2	37	c.459T>C	CCDS7841.1																																																																																				0.383	LDHAL6A-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395904.1	NM_144972		4	197	0	0	0	1	0	4	197				
SCN11A	11280	broad.mit.edu	37	3	38938500	38938500	+	Missense_Mutation	SNP	G	G	A			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr3:38938500G>A	ENST00000302328.3	-	14	2437	c.2239C>T	c.(2239-2241)Cgg>Tgg	p.R747W	SCN11A_ENST00000444237.2_Missense_Mutation_p.R747W|SCN11A_ENST00000450244.1_Missense_Mutation_p.R747W|SCN11A_ENST00000456224.3_Missense_Mutation_p.R747W	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	747					cell death (GO:0008219)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of sensory perception of pain (GO:0051930)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.R747W(1)		NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TGCCAGTGCCGTAAACATGAG	0.488																																						ENST00000450244.1																			1	Substitution - Missense(1)	p.R747W(1)	prostate(1)	NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119						c.(2239-2241)Cgg>Tgg		sodium channel, voltage-gated, type XI, alpha subunit	Cocaine(DB00907)						121.0	108.0	112.0					3																	38938500		2203	4300	6503	SO:0001583	missense	11280				response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr3:38938500G>A	AF126739	CCDS33737.1	3p22.2	2012-02-26	2007-01-23		ENSG00000168356	ENSG00000168356		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10583	protein-coding gene	gene with protein product		604385	"""sodium channel, voltage-gated, type XI, alpha polypeptide"", ""sodium channel, voltage-gated, type XII, alpha"""	SCN12A		10444332, 16382098	Standard	NM_014139		Approved	Nav1.9, NaN, SNS-2	uc021wvy.1	Q9UI33	OTTHUMG00000048246	ENST00000302328.3:c.2239C>T	3.37:g.38938500G>A	ENSP00000307599:p.Arg747Trp		Somatic				SCN11A_ENST00000444237.2_Missense_Mutation_p.R747W|SCN11A_ENST00000456224.3_Missense_Mutation_p.R747W|SCN11A_ENST00000302328.3_Missense_Mutation_p.R747W	p.R747W			WXS	Illumina GAIIx	Phase_I	Q9UI33	SCNBA_HUMAN		Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	14	2437	-			747					A6NN05|C9JD48|C9JR31|Q68K15|Q8NDX3|Q9UHE0|Q9UHM0	Missense_Mutation	SNP	ENST00000302328.3	37	c.2239C>T	CCDS33737.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.004380	0.74932	.	.	ENSG00000168356	ENST00000302328;ENST00000450244;ENST00000456224;ENST00000444237	D;D;D;D	0.98617	-5.03;-5.03;-5.03;-5.03	5.95	3.99	0.46301	Ion transport (1);	0.000000	0.30630	N	0.009212	D	0.98704	0.9565	M	0.78456	2.415	0.20489	N	0.999891	D	0.89917	1.0	D	0.76071	0.987	D	0.95189	0.8306	10	0.87932	D	0	.	7.0315	0.24970	0.0952:0.0:0.5612:0.3436	.	747	Q9UI33	SCNBA_HUMAN	W	747	ENSP00000307599:R747W;ENSP00000400945:R747W;ENSP00000416757:R747W;ENSP00000408028:R747W	ENSP00000307599:R747W	R	-	1	2	SCN11A	38913504	0.929000	0.31497	0.072000	0.20136	0.169000	0.22640	4.058000	0.57463	1.352000	0.45808	0.650000	0.86243	CGG		0.488	SCN11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109746.4	NM_014139		3	102	0	0	0	1	0	3	102				
EIF4G1	1981	broad.mit.edu	37	3	184039116	184039116	+	Silent	SNP	T	T	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr3:184039116T>C	ENST00000346169.2	+	10	1015	c.744T>C	c.(742-744)ccT>ccC	p.P248P	EIF4G1_ENST00000427845.1_Silent_p.P161P|EIF4G1_ENST00000350481.5_Silent_p.P84P|EIF4G1_ENST00000414031.1_Silent_p.P208P|EIF4G1_ENST00000424196.1_Silent_p.P255P|EIF4G1_ENST00000435046.2_Silent_p.P52P|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000441154.1_Silent_p.P84P|EIF4G1_ENST00000342981.4_Silent_p.P248P|EIF4G1_ENST00000352767.3_Silent_p.P255P|EIF4G1_ENST00000434061.2_Silent_p.P52P|EIF4G1_ENST00000392537.2_Silent_p.P161P|EIF4G1_ENST00000319274.6_Silent_p.P248P|EIF4G1_ENST00000411531.1_Silent_p.P208P|EIF4G1_ENST00000382330.3_Silent_p.P255P	NM_198241.2	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	248					cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|lung development (GO:0030324)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|response to ethanol (GO:0045471)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CAGGGCTGCCTGGCCCAGAGC	0.567																																						ENST00000342981.4																			0				central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75						c.(742-744)ccT>ccC		eukaryotic translation initiation factor 4 gamma, 1							90.0	89.0	89.0					3																	184039116		2203	4300	6503	SO:0001819	synonymous_variant	1981				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity	g.chr3:184039116T>C	D12686	CCDS3259.1, CCDS3260.1, CCDS3261.1, CCDS46970.1, CCDS46970.2, CCDS54687.1, CCDS54688.1	3q27.1	2013-09-19			ENSG00000114867	ENSG00000114867		"""Parkinson disease"""	3296	protein-coding gene	gene with protein product		600495		EIF4G, EIF4F		1429670, 9372926, 21907011	Standard	NM_182917		Approved	p220, PARK18	uc010hxy.3	Q04637	OTTHUMG00000156784	ENST00000346169.2:c.744T>C	3.37:g.184039116T>C			Somatic				EIF4G1_ENST00000346169.2_Silent_p.P248P|EIF4G1_ENST00000427845.1_Silent_p.P161P|EIF4G1_ENST00000441154.1_Silent_p.P84P|EIF4G1_ENST00000434061.2_Silent_p.P52P|EIF4G1_ENST00000382330.3_Silent_p.P255P|EIF4G1_ENST00000424196.1_Silent_p.P255P|EIF4G1_ENST00000411531.1_Silent_p.P208P|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000414031.1_Silent_p.P208P|EIF4G1_ENST00000435046.2_Silent_p.P52P|EIF4G1_ENST00000319274.6_Silent_p.P248P|EIF4G1_ENST00000392537.2_Silent_p.P161P|EIF4G1_ENST00000352767.3_Silent_p.P255P|EIF4G1_ENST00000350481.5_Silent_p.P84P	p.P248P	NM_182917.4	NP_886553.3	WXS	Illumina GAIIx	Phase_I	Q04637	IF4G1_HUMAN	Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		9	1158	+	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		248					D3DNT2|D3DNT4|D3DNT5|E9PFM1|G5E9S1|O43177|O95066|Q5HYG0|Q6ZN21|Q8N102	Silent	SNP	ENST00000346169.2	37	c.744T>C	CCDS3259.1																																																																																				0.567	EIF4G1-007	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000345733.1	NM_182917		13	195	0	0	0	1	0	13	195				
CSMD1	64478	broad.mit.edu	37	8	2976082	2976082	+	Missense_Mutation	SNP	G	G	A			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr8:2976082G>A	ENST00000520002.1	-	43	6827	c.6272C>T	c.(6271-6273)cCa>cTa	p.P2091L	CSMD1_ENST00000400186.3_Missense_Mutation_p.P2091L|CSMD1_ENST00000537824.1_Missense_Mutation_p.P2090L|CSMD1_ENST00000602557.1_Missense_Mutation_p.P2091L|CSMD1_ENST00000602723.1_Missense_Mutation_p.P2091L|CSMD1_ENST00000542608.1_Missense_Mutation_p.P2090L			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2091	Sushi 12. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		AAATGGGGGTGGATCTGGACA	0.408																																						ENST00000520002.1																			0				breast(20)|large_intestine(5)	25						c.(6271-6273)cCa>cTa		CUB and Sushi multiple domains 1							122.0	117.0	119.0					8																	2976082		1950	4133	6083	SO:0001583	missense	64478					integral to membrane		g.chr8:2976082G>A			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.6272C>T	8.37:g.2976082G>A	ENSP00000430733:p.Pro2091Leu		Somatic				CSMD1_ENST00000400186.3_Missense_Mutation_p.P2091L|CSMD1_ENST00000602557.1_Missense_Mutation_p.P2091L|CSMD1_ENST00000542608.1_Missense_Mutation_p.P2090L|CSMD1_ENST00000537824.1_Missense_Mutation_p.P2090L|CSMD1_ENST00000602723.1_Missense_Mutation_p.P2091L	p.P2091L			WXS	Illumina GAIIx	Phase_I	Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	43	6827	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	2091			Sushi 12.		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37	c.6272C>T		.	.	.	.	.	.	.	.	.	.	G	28.1	4.890375	0.91889	.	.	ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608	D;D;D;D	0.84223	-1.82;-1.82;-1.82;-1.82	5.03	5.03	0.67393	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.85682	D	0.000000	D	0.90841	0.7123	L	0.56340	1.77	0.80722	D	1	D;D;D	0.76494	0.993;0.999;0.999	P;D;D	0.97110	0.901;1.0;0.992	D	0.91165	0.4964	10	0.56958	D	0.05	.	18.734	0.91748	0.0:0.0:1.0:0.0	.	2091;2091;2090	E5RIG2;Q96PZ7;F5H2I8	.;CSMD1_HUMAN;.	L	2091;2091;1952;2090;2090	ENSP00000383047:P2091L;ENSP00000430733:P2091L;ENSP00000441462:P2090L;ENSP00000446243:P2090L	ENSP00000320445:P1952L	P	-	2	0	CSMD1	2963489	1.000000	0.71417	0.399000	0.26333	0.974000	0.67602	9.525000	0.98039	2.481000	0.83766	0.563000	0.77884	CCA		0.408	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		3	84	0	0	0	1	0	3	84				
QPCT	25797	broad.mit.edu	37	2	37586796	37586796	+	Missense_Mutation	SNP	C	C	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr2:37586796C>T	ENST00000338415.3	+	3	499	c.341C>T	c.(340-342)cCc>cTc	p.P114L	QPCT_ENST00000537448.1_Missense_Mutation_p.P65L	NM_012413.3	NP_036545.1	Q16769	QPCT_HUMAN	glutaminyl-peptide cyclotransferase	114					cellular protein modification process (GO:0006464)|peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase (GO:0017186)	extracellular vesicular exosome (GO:0070062)	glutaminyl-peptide cyclotransferase activity (GO:0016603)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|stomach(2)	17		Ovarian(717;0.051)|all_hematologic(82;0.21)				AGTCAGACACCCTATGGGTAC	0.443																																						ENST00000338415.3																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|stomach(2)	17						c.(340-342)cCc>cTc		glutaminyl-peptide cyclotransferase							95.0	79.0	84.0					2																	37586796		2203	4300	6503	SO:0001583	missense	25797				peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase|proteolysis	extracellular region	acyltransferase activity|glutaminyl-peptide cyclotransferase activity|peptidase activity|zinc ion binding	g.chr2:37586796C>T	X71125	CCDS1790.1	2p22	2008-07-31	2008-07-31		ENSG00000115828	ENSG00000115828	2.3.2.5		9753	protein-coding gene	gene with protein product	"""glutaminyl cyclase"""	607065				7999256	Standard	NM_012413		Approved	QC, GCT	uc002rqg.3	Q16769	OTTHUMG00000100963	ENST00000338415.3:c.341C>T	2.37:g.37586796C>T	ENSP00000344829:p.Pro114Leu		Somatic				QPCT_ENST00000537448.1_Missense_Mutation_p.P65L	p.P114L	NM_012413.3	NP_036545.1	WXS	Illumina GAIIx	Phase_I	Q16769	QPCT_HUMAN			3	499	+		Ovarian(717;0.051)|all_hematologic(82;0.21)	114					Q16770|Q3KRG6|Q53TR4	Missense_Mutation	SNP	ENST00000338415.3	37	c.341C>T	CCDS1790.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.640023	0.87760	.	.	ENSG00000115828	ENST00000338415;ENST00000404976;ENST00000537448	T;T;T	0.32753	1.44;1.44;1.44	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.66528	0.2798	M	0.91196	3.185	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.74509	-0.3642	10	0.87932	D	0	-3.9293	19.4608	0.94916	0.0:1.0:0.0:0.0	.	65;114	Q16769-2;Q16769	.;QPCT_HUMAN	L	114;65;65	ENSP00000344829:P114L;ENSP00000385391:P65L;ENSP00000441606:P65L	ENSP00000344829:P114L	P	+	2	0	QPCT	37440300	1.000000	0.71417	0.972000	0.41901	0.710000	0.40934	7.668000	0.83897	2.587000	0.87381	0.655000	0.94253	CCC		0.443	QPCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218572.2			66	43	0	0	0	1	0	66	43				
HRH2	3274	broad.mit.edu	37	5	175110623	175110623	+	Silent	SNP	G	G	A			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr5:175110623G>A	ENST00000231683.2	+	1	2160	c.387G>A	c.(385-387)ctG>ctA	p.L129L	HRH2_ENST00000377291.2_Silent_p.L129L	NM_022304.2	NP_071640.1	P25021	HRH2_HUMAN	histamine receptor H2	129					digestive tract development (GO:0048565)|epithelial cell morphogenesis (GO:0003382)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|gastrin-induced gastric acid secretion (GO:0001698)|gland development (GO:0048732)|histamine-induced gastric acid secretion (GO:0001697)|immune response (GO:0006955)|memory (GO:0007613)|positive regulation of vasoconstriction (GO:0045907)|regulation of synaptic plasticity (GO:0048167)|visual learning (GO:0008542)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	histamine receptor activity (GO:0004969)	p.L129L(1)		breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(10)|ovary(1)	22	all_cancers(89;0.00805)|Renal(175;0.000269)|Lung NSC(126;0.00419)|all_lung(126;0.00711)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Colorectal(1;0.0154)|COAD - Colon adenocarcinoma(1;0.149)	Amitriptyline(DB00321)|Asenapine(DB06216)|Betazole(DB00272)|Cimetidine(DB00501)|Doxepin(DB01142)|Epinastine(DB00751)|Famotidine(DB00927)|Histamine Phosphate(DB00667)|Loxapine(DB00408)|Methantheline(DB00940)|Nizatidine(DB00585)|Olanzapine(DB00334)|Ranitidine(DB00863)|Roxatidine acetate(DB08806)|Tolazoline(DB00797)	ACCCTGTGCTGGTCACCCCAG	0.557																																						ENST00000231683.2																			1	Substitution - coding silent(1)	p.L129L(1)	lung(1)	breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(10)|ovary(1)	22						c.(385-387)ctG>ctA		histamine receptor H2	Betazole(DB00272)|Cimetidine(DB00501)|Doxepin(DB01142)|Epinastine(DB00751)|Famotidine(DB00927)|Histamine Phosphate(DB00667)|Nizatidine(DB00585)|Ranitidine(DB00863)						137.0	115.0	122.0					5																	175110623		2203	4300	6503	SO:0001819	synonymous_variant	3274				G-protein signaling, coupled to cyclic nucleotide second messenger|immune response	integral to plasma membrane	histamine receptor activity	g.chr5:175110623G>A		CCDS4395.1, CCDS47344.1	5q35	2012-08-08			ENSG00000113749	ENSG00000113749		"""GPCR / Class A : Histamine receptors"""	5183	protein-coding gene	gene with protein product		142703				1714721	Standard	NM_022304		Approved		uc003mdc.4	P25021	OTTHUMG00000130660	ENST00000231683.2:c.387G>A	5.37:g.175110623G>A			Somatic				HRH2_ENST00000377291.2_Silent_p.L129L	p.L129L	NM_022304.2	NP_071640.1	WXS	Illumina GAIIx	Phase_I	P25021	HRH2_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Colorectal(1;0.0154)|COAD - Colon adenocarcinoma(1;0.149)	1	2160	+	all_cancers(89;0.00805)|Renal(175;0.000269)|Lung NSC(126;0.00419)|all_lung(126;0.00711)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	129					B5BUP7|Q14464|Q7Z5R9	Silent	SNP	ENST00000231683.2	37	c.387G>A	CCDS4395.1																																																																																				0.557	HRH2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253151.1			4	320	0	0	0	1	0	4	320				
MYO16	23026	broad.mit.edu	37	13	109379873	109379873	+	Missense_Mutation	SNP	C	C	T	rs201650171		TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr13:109379873C>T	ENST00000357550.2	+	3	424	c.383C>T	c.(382-384)aCg>aTg	p.T128M	MYO16_ENST00000356711.2_Missense_Mutation_p.T128M|MYO16_ENST00000251041.5_Missense_Mutation_p.T128M	NM_001198950.1	NP_001185879.1			myosin XVI									p.T128M(1)		NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			GACTTCTGGACGCCCATGCAC	0.418													.|||	1	0.000199681	0.0	0.0	5008	,	,		19002	0.001		0.0	False		,,,				2504	0.0					ENST00000356711.2																			1	Substitution - Missense(1)	p.T128M(1)	endometrium(1)	NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121						c.(382-384)aCg>aTg		myosin XVI							210.0	185.0	193.0					13																	109379873		2203	4300	6503	SO:0001583	missense	23026				cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity	g.chr13:109379873C>T		CCDS32008.1, CCDS73598.1	13q33.3	2014-06-12			ENSG00000041515	ENSG00000041515		"""Myosins / Myosin superfamily : Class XVI"", ""Ankyrin repeat domain containing"""	29822	protein-coding gene	gene with protein product	"""neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 3"", ""protein phosphatase 1, regulatory subunit 107"""	615479				11588169, 17029291, 21946561	Standard	NM_001198950		Approved	MYR8, KIAA0865, Myo16b, NYAP3, PPP1R107	uc001vqt.1	Q9Y6X6	OTTHUMG00000017333	ENST00000357550.2:c.383C>T	13.37:g.109379873C>T	ENSP00000350160:p.Thr128Met		Somatic				MYO16_ENST00000251041.5_Missense_Mutation_p.T128M|MYO16_ENST00000357550.2_Missense_Mutation_p.T128M	p.T128M	NM_015011.1	NP_055826.1	WXS	Illumina GAIIx	Phase_I	Q9Y6X6	MYO16_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)		4	509	+	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		128						Missense_Mutation	SNP	ENST00000357550.2	37	c.383C>T	CCDS32008.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	19.24	3.788984	0.70337	.	.	ENSG00000041515	ENST00000356711;ENST00000397258;ENST00000357550;ENST00000251041	T;T;T	0.75154	-0.91;-0.91;-0.91	4.68	4.68	0.58851	Ankyrin repeat-containing domain (4);	0.200080	0.23353	U	0.049115	D	0.90752	0.7097	H	0.96691	3.865	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.74674	0.939;0.984	D	0.93997	0.7272	9	.	.	.	.	16.9776	0.86317	0.0:1.0:0.0:0.0	.	128;128	Q9Y6X6-2;Q9Y6X6	.;MYO16_HUMAN	M	128	ENSP00000349145:T128M;ENSP00000350160:T128M;ENSP00000251041:T128M	.	T	+	2	0	MYO16	108177874	1.000000	0.71417	0.966000	0.40874	0.704000	0.40688	6.738000	0.74822	2.310000	0.77875	0.462000	0.41574	ACG		0.418	MYO16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045746.1	NM_015011		79	199	0	0	0	1	0	79	199				
LMNB1	4001	broad.mit.edu	37	5	126156695	126156695	+	Silent	SNP	G	G	A			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr5:126156695G>A	ENST00000261366.5	+	7	1615	c.1254G>A	c.(1252-1254)agG>agA	p.R418R	LMNB1_ENST00000460265.1_3'UTR	NM_001198557.1|NM_005573.3	NP_001185486.1|NP_005564.1	P20700	LMNB1_HUMAN	lamin B1	418	Tail.				apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	lamin filament (GO:0005638)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear inner membrane (GO:0005637)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(142;0.103)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.033)|OV - Ovarian serous cystadenocarcinoma(64;0.0398)|all cancers(49;0.0903)		AGCGGAAGAGGGTTGATGTGG	0.478																																						ENST00000261366.5																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(1252-1254)agG>agA		lamin B1							155.0	129.0	138.0					5																	126156695		2203	4300	6503	SO:0001819	synonymous_variant	4001				cellular component disassembly involved in apoptosis	lamin filament|nuclear inner membrane	protein binding|structural molecule activity	g.chr5:126156695G>A	L37737	CCDS4140.1	5q23.2	2013-01-16			ENSG00000113368	ENSG00000113368		"""Intermediate filaments type V, lamins"""	6637	protein-coding gene	gene with protein product		150340				7557986, 8838815	Standard	NM_005573		Approved		uc003kud.2	P20700	OTTHUMG00000128969	ENST00000261366.5:c.1254G>A	5.37:g.126156695G>A			Somatic				LMNB1_ENST00000460265.1_3'UTR	p.R418R	NM_001198557.1|NM_005573.3	NP_001185486.1|NP_005564.1	WXS	Illumina GAIIx	Phase_I	P20700	LMNB1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.033)|OV - Ovarian serous cystadenocarcinoma(64;0.0398)|all cancers(49;0.0903)	7	1615	+		all_cancers(142;0.103)|Prostate(80;0.081)	418			Tail.		B2R6J6|Q3SYN7|Q96EI6	Silent	SNP	ENST00000261366.5	37	c.1254G>A	CCDS4140.1																																																																																				0.478	LMNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250956.2	NM_005573		16	69	0	0	0	1	0	16	69				
ALDH1L1	10840	broad.mit.edu	37	3	125850328	125850328	+	Missense_Mutation	SNP	C	C	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr3:125850328C>T	ENST00000393434.2	-	13	1871	c.1522G>A	c.(1522-1524)Gcc>Acc	p.A508T	ALDH1L1_ENST00000472186.1_Missense_Mutation_p.A508T|ALDH1L1_ENST00000452905.2_Missense_Mutation_p.A407T|ALDH1L1_ENST00000273450.3_Missense_Mutation_p.A518T|ALDH1L1_ENST00000393431.2_Intron	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	508	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process (GO:0009258)|biosynthetic process (GO:0009058)|one-carbon metabolic process (GO:0006730)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	catalytic activity (GO:0003824)|formyltetrahydrofolate dehydrogenase activity (GO:0016155)|hydroxymethyl-, formyl- and related transferase activity (GO:0016742)|methyltransferase activity (GO:0008168)|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	GCATCCAGGGCCTCAATGGTG	0.637																																						ENST00000393434.2																			0				NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52						c.(1522-1524)Gcc>Acc		aldehyde dehydrogenase 1 family, member L1	Tetrahydrofolic acid(DB00116)						80.0	70.0	73.0					3																	125850328		2203	4300	6503	SO:0001583	missense	10840				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity	g.chr3:125850328C>T	AF052732	CCDS3034.1, CCDS58850.1, CCDS58851.1	3q21.2	2010-07-19		2005-01-27	ENSG00000144908	ENSG00000144908	1.5.1.6	"""Aldehyde dehydrogenases"""	3978	protein-coding gene	gene with protein product	"""cytosolic 10-formyltetrahydrofolate dehydrogenase"""	600249	"""formyltetrahydrofolate dehydrogenase"""	FTHFD			Standard	NM_012190		Approved	10-fTHF	uc031sbp.1	O75891	OTTHUMG00000125551	ENST00000393434.2:c.1522G>A	3.37:g.125850328C>T	ENSP00000377083:p.Ala508Thr		Somatic				ALDH1L1_ENST00000452905.2_Missense_Mutation_p.A407T|ALDH1L1_ENST00000472186.1_Missense_Mutation_p.A508T|ALDH1L1_ENST00000273450.3_Missense_Mutation_p.A518T|ALDH1L1_ENST00000393431.2_Intron	p.A508T	NM_012190.3	NP_036322.2	WXS	Illumina GAIIx	Phase_I	O75891	AL1L1_HUMAN		GBM - Glioblastoma multiforme(114;0.0462)	13	1871	-			508			Aldehyde dehydrogenase.		B4DG36|E9PBX3|Q68CS1	Missense_Mutation	SNP	ENST00000393434.2	37	c.1522G>A	CCDS3034.1	.	.	.	.	.	.	.	.	.	.	C	4.402	0.074333	0.08485	.	.	ENSG00000144908	ENST00000273450;ENST00000472186;ENST00000452905;ENST00000393434	T;T;T;T	0.75704	-0.96;-0.96;-0.96;-0.96	3.94	3.94	0.45596	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.064909	0.64402	D	0.000011	T	0.44159	0.1280	N	0.02111	-0.68	0.80722	D	1	B;B	0.30634	0.288;0.064	B;B	0.31686	0.134;0.053	T	0.45026	-0.9289	10	0.13470	T	0.59	.	9.1299	0.36839	0.2182:0.7818:0.0:0.0	.	407;508	E9PBX3;O75891	.;AL1L1_HUMAN	T	518;508;407;508	ENSP00000273450:A518T;ENSP00000420293:A508T;ENSP00000395881:A407T;ENSP00000377083:A508T	ENSP00000273450:A518T	A	-	1	0	ALDH1L1	127333018	0.004000	0.15560	1.000000	0.80357	0.335000	0.28730	-0.335000	0.07873	2.186000	0.69663	0.313000	0.20887	GCC		0.637	ALDH1L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354391.1	NM_012190		5	71	0	0	0	1	0	5	71				
OR10K1	391109	broad.mit.edu	37	1	158435766	158435766	+	Missense_Mutation	SNP	G	G	A			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr1:158435766G>A	ENST00000289451.2	+	1	495	c.415G>A	c.(415-417)Ggg>Agg	p.G139R		NM_001004473.1	NP_001004473.1	Q8NGX5	O10K1_HUMAN	olfactory receptor, family 10, subfamily K, member 1	139						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	27	all_hematologic(112;0.0378)					CATGGGACATGGGGTGTGTAT	0.552																																						ENST00000289451.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	27						c.(415-417)Ggg>Agg		olfactory receptor, family 10, subfamily K, member 1							211.0	199.0	203.0					1																	158435766		2203	4300	6503	SO:0001583	missense	391109				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158435766G>A	AP002532	CCDS30897.1	1q23.1	2012-08-09			ENSG00000173285	ENSG00000173285		"""GPCR / Class A : Olfactory receptors"""	14693	protein-coding gene	gene with protein product							Standard	NM_001004473		Approved		uc010pij.2	Q8NGX5	OTTHUMG00000017517	ENST00000289451.2:c.415G>A	1.37:g.158435766G>A	ENSP00000289451:p.Gly139Arg		Somatic					p.G139R	NM_001004473.1	NP_001004473.1	WXS	Illumina GAIIx	Phase_I	Q8NGX5	O10K1_HUMAN			1	495	+	all_hematologic(112;0.0378)		139					Q6IFS2	Missense_Mutation	SNP	ENST00000289451.2	37	c.415G>A	CCDS30897.1	.	.	.	.	.	.	.	.	.	.	g	0.030	-1.338207	0.01287	.	.	ENSG00000173285	ENST00000289451	T	0.31769	1.48	4.5	0.486	0.16836	GPCR, rhodopsin-like superfamily (1);	0.886807	0.09470	N	0.797752	T	0.02455	0.0075	N	0.02225	-0.63	0.09310	N	1	B	0.28258	0.205	B	0.32289	0.143	T	0.44697	-0.9311	10	0.02654	T	1	.	4.7352	0.12984	0.3428:0.1501:0.5071:0.0	.	139	Q8NGX5	O10K1_HUMAN	R	139	ENSP00000289451:G139R	ENSP00000289451:G139R	G	+	1	0	OR10K1	156702390	0.000000	0.05858	0.000000	0.03702	0.710000	0.40934	-0.350000	0.07721	-0.072000	0.12864	-0.262000	0.10625	GGG		0.552	OR10K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046367.1			4	262	0	0	0	1	0	4	262				
SDK1	221935	broad.mit.edu	37	7	4051776	4051776	+	Missense_Mutation	SNP	G	G	A			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr7:4051776G>A	ENST00000404826.2	+	16	2468	c.2329G>A	c.(2329-2331)Gcc>Acc	p.A777T	SDK1_ENST00000389531.3_Missense_Mutation_p.A777T	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	777	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		AAATATAGTGGCCAGTGGGCG	0.517																																						ENST00000404826.2																			0				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153						c.(2329-2331)Gcc>Acc		sidekick cell adhesion molecule 1							138.0	153.0	148.0					7																	4051776		2203	4300	6503	SO:0001583	missense	221935				cell adhesion	integral to membrane		g.chr7:4051776G>A	AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19307	protein-coding gene	gene with protein product		607216	"""sidekick homolog 1 (chicken)"", ""sidekick homolog 1, cell adhesion molecule (chicken)"""			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.2329G>A	7.37:g.4051776G>A	ENSP00000385899:p.Ala777Thr		Somatic				SDK1_ENST00000389531.3_Missense_Mutation_p.A777T	p.A777T	NM_152744.3	NP_689957.3	WXS	Illumina GAIIx	Phase_I	Q7Z5N4	SDK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)	16	2468	+		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)	777			Fibronectin type-III 2.		Q8TEN9|Q8TEP5|Q96N44	Missense_Mutation	SNP	ENST00000404826.2	37	c.2329G>A	CCDS34590.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.536842	0.85812	.	.	ENSG00000146555	ENST00000404826;ENST00000389531	T;T	0.60299	0.2;0.2	5.28	5.28	0.74379	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000001	T	0.79028	0.4377	M	0.83953	2.67	0.58432	D	0.999992	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.99	T	0.82104	-0.0622	10	0.72032	D	0.01	.	18.9486	0.92632	0.0:0.0:1.0:0.0	.	777;777	F8W6X9;Q7Z5N4	.;SDK1_HUMAN	T	777	ENSP00000385899:A777T;ENSP00000374182:A777T	ENSP00000374182:A777T	A	+	1	0	SDK1	4018302	1.000000	0.71417	1.000000	0.80357	0.802000	0.45316	7.517000	0.81783	2.479000	0.83701	0.655000	0.94253	GCC		0.517	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1	NM_152744		7	778	0	0	0	1	0	7	778				
AHNAK	79026	broad.mit.edu	37	11	62291443	62291443	+	Missense_Mutation	SNP	G	G	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr11:62291443G>C	ENST00000378024.4	-	5	10720	c.10446C>G	c.(10444-10446)ttC>ttG	p.F3482L	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	3482					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CAGACACACTGAATTTGGGCA	0.453																																						ENST00000378024.4																			0				NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(10444-10446)ttC>ttG		AHNAK nucleoprotein							116.0	112.0	113.0					11																	62291443		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62291443G>C	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.10446C>G	11.37:g.62291443G>C	ENSP00000367263:p.Phe3482Leu		Somatic				AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	p.F3482L	NM_001620.1	NP_001611.1	WXS	Illumina GAIIx	Phase_I	Q09666	AHNK_HUMAN			5	10720	-		Melanoma(852;0.155)	3482					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.10446C>G	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	g	6.102	0.387035	0.11581	.	.	ENSG00000124942	ENST00000378024	T	0.01572	4.76	4.51	-5.87	0.02297	.	.	.	.	.	T	0.05273	0.0140	L	0.52573	1.65	0.25647	N	0.986134	D	0.63880	0.993	D	0.73708	0.981	T	0.00527	-1.1688	9	0.20519	T	0.43	.	14.5003	0.67716	0.7933:0.0:0.2067:0.0	.	3482	Q09666	AHNK_HUMAN	L	3482	ENSP00000367263:F3482L	ENSP00000367263:F3482L	F	-	3	2	AHNAK	62048019	0.000000	0.05858	0.004000	0.12327	0.008000	0.06430	-1.148000	0.03185	-1.335000	0.02241	-0.410000	0.06199	TTC		0.453	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		10	100	0	0	0	1	0	10	100				
SLC12A2	6558	broad.mit.edu	37	5	127486938	127486938	+	Missense_Mutation	SNP	C	C	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr5:127486938C>T	ENST00000262461.2	+	14	2302	c.2113C>T	c.(2113-2115)Cgt>Tgt	p.R705C	SLC12A2_ENST00000343225.4_Missense_Mutation_p.R705C	NM_001046.2	NP_001037.1	P55011	S12A2_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 2	705					ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|branching involved in mammary gland duct morphogenesis (GO:0060444)|chloride transmembrane transport (GO:1902476)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|gamma-aminobutyric acid signaling pathway (GO:0007214)|hyperosmotic response (GO:0006972)|ion transport (GO:0006811)|mammary duct terminal end bud growth (GO:0060763)|multicellular organism growth (GO:0035264)|positive regulation of cell volume (GO:0045795)|potassium ion transport (GO:0006813)|sodium ion transport (GO:0006814)|transepithelial ammonium transport (GO:0070634)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ammonium transmembrane transporter activity (GO:0008519)|sodium:potassium:chloride symporter activity (GO:0008511)			breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		all_cancers(142;0.0972)|Prostate(80;0.151)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	Bumetanide(DB00887)|Potassium Chloride(DB00761)|Quinethazone(DB01325)	GTTAGGATGGCGTCCTGCATT	0.348																																						ENST00000262461.2																			0				breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						c.(2113-2115)Cgt>Tgt		solute carrier family 12 (sodium/potassium/chloride transporter), member 2	Bumetanide(DB00887)|Potassium Chloride(DB00761)						209.0	201.0	204.0					5																	127486938		2203	4300	6503	SO:0001583	missense	6558				potassium ion transport|sodium ion transport|transepithelial ammonium transport|transepithelial chloride transport	integral to plasma membrane|membrane fraction	ammonia transmembrane transporter activity|sodium:potassium:chloride symporter activity	g.chr5:127486938C>T		CCDS4144.1, CCDS58965.1	5q23.3	2014-06-13	2013-07-18		ENSG00000064651	ENSG00000064651		"""Solute carriers"""	10911	protein-coding gene	gene with protein product	"""bumetanide-sensitive sodium-(potassium)-chloride cotransporter 1"", ""basolateral Na-K-Cl symporter"", ""protein phosphatase 1, regulatory subunit 141"""	600840				7629105	Standard	NM_001256461		Approved	NKCC1, BSC, BSC2, PPP1R141	uc003kus.3	P55011	OTTHUMG00000128983	ENST00000262461.2:c.2113C>T	5.37:g.127486938C>T	ENSP00000262461:p.Arg705Cys		Somatic				SLC12A2_ENST00000343225.4_Missense_Mutation_p.R705C	p.R705C	NM_001046.2	NP_001037.1	WXS	Illumina GAIIx	Phase_I	P55011	S12A2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	14	2302	+		all_cancers(142;0.0972)|Prostate(80;0.151)	705					Q8N713|Q8WWH7	Missense_Mutation	SNP	ENST00000262461.2	37	c.2113C>T	CCDS4144.1	.	.	.	.	.	.	.	.	.	.	C	19.53	3.845853	0.71603	.	.	ENSG00000064651	ENST00000262461;ENST00000343225	D;D	0.99532	-6.1;-6.1	4.86	4.86	0.63082	Amino acid permease domain (1);	0.000000	0.85682	D	0.000000	D	0.99819	0.9920	H	0.98295	4.195	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.74674	0.984;0.984	D	0.96735	0.9542	10	0.87932	D	0	.	18.5665	0.91119	0.0:1.0:0.0:0.0	.	705;705	P55011-3;P55011	.;S12A2_HUMAN	C	705	ENSP00000262461:R705C;ENSP00000340878:R705C	ENSP00000262461:R705C	R	+	1	0	SLC12A2	127514837	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.339000	0.43965	2.715000	0.92844	0.655000	0.94253	CGT		0.348	SLC12A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250972.1	NM_001046		19	167	0	0	0	1	0	19	167				
SALL4	57167	broad.mit.edu	37	20	50408873	50408873	+	Missense_Mutation	SNP	G	G	A			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr20:50408873G>A	ENST00000217086.4	-	2	260	c.149C>T	c.(148-150)cCa>cTa	p.P50L	SALL4_ENST00000395997.3_Missense_Mutation_p.P50L|SALL4_ENST00000483130.1_5'UTR|SALL4_ENST00000371539.3_Intron	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	50					embryonic limb morphogenesis (GO:0030326)|inner cell mass cell proliferation (GO:0001833)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|ventricular septum development (GO:0003281)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.P50Q(1)		endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GTCATTCCCTGGGTGGTTCAC	0.547																																						ENST00000217086.4																			1	Substitution - Missense(1)	p.P50Q(1)	lung(1)	endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(148-150)cCa>cTa		spalt-like transcription factor 4							46.0	48.0	48.0					20																	50408873		2203	4300	6503	SO:0001583	missense	57167				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:50408873G>A	AK001666	CCDS13438.1	20q13.2	2014-09-17	2013-10-17		ENSG00000101115	ENSG00000101115		"""Zinc fingers, C2H2-type"""	15924	protein-coding gene	gene with protein product		607343	"""sal (Drosophila)-like 4"", ""sal-like 4 (Drosophila)"""				Standard	NM_020436		Approved	dJ1112F19.1, ZNF797	uc002xwh.4	Q9UJQ4	OTTHUMG00000032752	ENST00000217086.4:c.149C>T	20.37:g.50408873G>A	ENSP00000217086:p.Pro50Leu		Somatic				SALL4_ENST00000483130.1_5'UTR|SALL4_ENST00000395997.3_Missense_Mutation_p.P50L|SALL4_ENST00000371539.3_Intron	p.P50L	NM_020436.3	NP_065169.1	WXS	Illumina GAIIx	Phase_I	Q9UJQ4	SALL4_HUMAN			2	260	-			50					A2A2D8|Q540H3|Q6Y8G6	Missense_Mutation	SNP	ENST00000217086.4	37	c.149C>T	CCDS13438.1	.	.	.	.	.	.	.	.	.	.	G	12.24	1.879584	0.33162	.	.	ENSG00000101115	ENST00000217086;ENST00000395997	T;T	0.54675	0.56;0.56	5.41	-2.51	0.06365	.	0.803272	0.10532	N	0.663676	T	0.41351	0.1155	L	0.43701	1.375	0.19300	N	0.999971	B;B	0.11235	0.004;0.002	B;B	0.09377	0.004;0.003	T	0.26360	-1.0105	10	0.38643	T	0.18	-0.5668	10.8104	0.46543	0.449:0.0:0.551:0.0	.	50;50	A2A2D8;Q9UJQ4	.;SALL4_HUMAN	L	50	ENSP00000217086:P50L;ENSP00000379319:P50L	ENSP00000217086:P50L	P	-	2	0	SALL4	49842280	0.510000	0.26171	0.000000	0.03702	0.002000	0.02628	0.937000	0.28951	-0.813000	0.04357	-0.136000	0.14681	CCA		0.547	SALL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079738.3			5	406	0	0	0	1	0	5	406				
FHOD3	80206	broad.mit.edu	37	18	34327050	34327050	+	Missense_Mutation	SNP	C	C	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr18:34327050C>T	ENST00000359247.4	+	20	3608	c.3608C>T	c.(3607-3609)gCa>gTa	p.A1203V	FHOD3_ENST00000257209.4_Missense_Mutation_p.A1220V|FHOD3_ENST00000445677.1_Missense_Mutation_p.A1182V|FHOD3_ENST00000590592.1_Missense_Mutation_p.A1395V|FHOD3_ENST00000591635.1_Missense_Mutation_p.A416V|FHOD3_ENST00000592128.1_Missense_Mutation_p.A199V	NM_001281739.1	NP_001268668.1	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	1203	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin filament network formation (GO:0051639)|cardiac myofibril assembly (GO:0055003)|negative regulation of actin filament polymerization (GO:0030837)|sarcomere organization (GO:0045214)	striated muscle thin filament (GO:0005865)				NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				AAAGACTGTGCAGAGCGAATT	0.353																																						ENST00000257209.4																			0				NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90						c.(3658-3660)gCa>gTa		formin homology 2 domain containing 3							78.0	79.0	79.0					18																	34327050		2203	4300	6503	SO:0001583	missense	80206				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	g.chr18:34327050C>T	AK091899	CCDS32816.1, CCDS62418.1, CCDS62419.1	18q12	2007-08-02				ENSG00000134775			26178	protein-coding gene	gene with protein product		609691				11214970	Standard	NM_025135		Approved	FHOS2, KIAA1695, FLJ22297, FLJ22717	uc021uiv.1	Q2V2M9		ENST00000359247.4:c.3608C>T	18.37:g.34327050C>T	ENSP00000352186:p.Ala1203Val		Somatic				FHOD3_ENST00000592128.1_Missense_Mutation_p.A199V|FHOD3_ENST00000590592.1_Missense_Mutation_p.A1395V|FHOD3_ENST00000445677.1_Missense_Mutation_p.A1182V|FHOD3_ENST00000359247.4_Missense_Mutation_p.A1203V|FHOD3_ENST00000591635.1_Missense_Mutation_p.A416V	p.A1220V	NM_025135.2	NP_079411.2	WXS	Illumina GAIIx	Phase_I	Q2V2M9	FHOD3_HUMAN			21	3781	+		all_epithelial(2;0.0181)|Colorectal(2;0.0195)	1203			FH2.		A8MQT4|E5F5Q0|Q642I2|Q6ZRQ7|Q86TF9|Q8N3A5|Q9C0G8|Q9H604|Q9H6G7	Missense_Mutation	SNP	ENST00000359247.4	37	c.3659C>T		.	.	.	.	.	.	.	.	.	.	C	35	5.508676	0.96386	.	.	ENSG00000134775	ENST00000257209;ENST00000359247;ENST00000445677	T;T;T	0.18174	2.23;2.23;2.23	5.67	5.67	0.87782	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.000000	0.85682	D	0.000000	T	0.46132	0.1377	M	0.79123	2.44	0.80722	D	1	D;D;D;P	0.89917	0.984;1.0;1.0;0.928	D;D;D;P	0.87578	0.959;0.997;0.998;0.837	T	0.41752	-0.9491	10	0.72032	D	0.01	.	18.3342	0.90282	0.0:1.0:0.0:0.0	.	424;1182;1203;1220	E7ETX5;Q2V2M9-2;Q2V2M9;Q2V2M9-3	.;.;FHOD3_HUMAN;.	V	1220;1203;1182	ENSP00000257209:A1220V;ENSP00000352186:A1203V;ENSP00000411430:A1182V	ENSP00000257209:A1220V	A	+	2	0	FHOD3	32581048	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	2.677000	0.91161	0.462000	0.41574	GCA		0.353	FHOD3-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460884.1	XM_371114		8	701	0	0	0	1	0	8	701				
FAM120B	84498	broad.mit.edu	37	6	170627847	170627847	+	Missense_Mutation	SNP	C	C	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr6:170627847C>T	ENST00000476287.1	+	2	1477	c.1369C>T	c.(1369-1371)Ccc>Tcc	p.P457S	FAM120B_ENST00000540480.1_Missense_Mutation_p.P469S|FAM120B_ENST00000252510.9_Intron|FAM120B_ENST00000537664.1_Missense_Mutation_p.P480S	NM_032448.1	NP_115824.1	Q96EK7	F120B_HUMAN	family with sequence similarity 120B	457					cell differentiation (GO:0030154)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(2)	44		Breast(66;0.000338)|Esophageal squamous(34;0.241)		OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899)		AGGCTCTGAACCCAGGCAAGA	0.473																																						ENST00000476287.1																			0				endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(2)	44						c.(1369-1371)Ccc>Tcc		family with sequence similarity 120B							172.0	187.0	182.0					6																	170627847		2203	4300	6503	SO:0001583	missense	84498				cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr6:170627847C>T	AB058741	CCDS5314.1, CCDS75555.1	6q27	2011-04-13	2006-07-04	2006-07-04	ENSG00000112584	ENSG00000112584			21109	protein-coding gene	gene with protein product	"""PPARgamma constitutive coactivator 1"", ""constitutive coactivator of PPAR-gamma"""	612266	"""KIAA1838"""	KIAA1838		14585507	Standard	NM_032448		Approved	PGCC1, CCPG	uc003qxp.3	Q96EK7	OTTHUMG00000016080	ENST00000476287.1:c.1369C>T	6.37:g.170627847C>T	ENSP00000417970:p.Pro457Ser		Somatic				FAM120B_ENST00000540480.1_Missense_Mutation_p.P469S|FAM120B_ENST00000252510.9_Intron|FAM120B_ENST00000537664.1_Missense_Mutation_p.P480S	p.P457S	NM_032448.1	NP_115824.1	WXS	Illumina GAIIx	Phase_I	Q96EK7	F120B_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899)	2	1477	+		Breast(66;0.000338)|Esophageal squamous(34;0.241)	457					B4DL34|Q86V68|Q96JI9	Missense_Mutation	SNP	ENST00000476287.1	37	c.1369C>T	CCDS5314.1	.	.	.	.	.	.	.	.	.	.	T	0.012	-1.647609	0.00792	.	.	ENSG00000112584	ENST00000540480;ENST00000537664;ENST00000476287	T;T;T	0.07908	3.15;3.2;3.2	2.42	-4.83	0.03161	.	2.392910	0.01799	N	0.032807	T	0.00384	0.0012	N	0.01188	-0.97	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.39881	-0.9592	10	0.02654	T	1	.	0.624	0.00783	0.4117:0.1633:0.2083:0.2166	.	457;457	Q96EK7;F2Z2E1	F120B_HUMAN;.	S	469;480;457	ENSP00000444125:P469S;ENSP00000440125:P480S;ENSP00000417970:P457S	ENSP00000436640:P457S	P	+	1	0	FAM120B	170469772	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-8.486000	0.00020	-5.932000	0.00008	-2.460000	0.00205	CCC		0.473	FAM120B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000043259.2	NM_032448		5	188	0	0	0	1	0	5	188				
AP1G2	8906	broad.mit.edu	37	14	24033790	24033790	+	Missense_Mutation	SNP	C	C	T	rs199577396		TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr14:24033790C>T	ENST00000308724.5	-	8	1657	c.902G>A	c.(901-903)cGc>cAc	p.R301H	AP1G2_ENST00000397120.3_Missense_Mutation_p.R301H|RP11-66N24.3_ENST00000555968.1_RNA|AP1G2_ENST00000556277.1_5'Flank	NM_003917.2	NP_003908.1	O75843	AP1G2_HUMAN	adaptor-related protein complex 1, gamma 2 subunit	301					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	AP-1 adaptor complex (GO:0030121)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|Golgi-associated vesicle (GO:0005798)|membrane (GO:0016020)|transport vesicle (GO:0030133)	protein transporter activity (GO:0008565)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	28	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00672)		AGCTGCAGAGCGGATATCCAT	0.587													C|||	1	0.000199681	0.0	0.0	5008	,	,		20791	0.001		0.0	False		,,,				2504	0.0					ENST00000308724.5																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	28						c.(901-903)cGc>cAc		adaptor-related protein complex 1, gamma 2 subunit							150.0	106.0	121.0					14																	24033790		2203	4300	6503	SO:0001583	missense	8906				interspecies interaction between organisms|intracellular protein transport|vesicle-mediated transport	AP-1 adaptor complex|endosome membrane	protein binding|protein transporter activity	g.chr14:24033790C>T	AB015318	CCDS9602.1	14q11.2	2008-07-03			ENSG00000213983	ENSG00000213983			556	protein-coding gene	gene with protein product		603534				9733768, 9762922	Standard	XM_005268167		Approved	G2AD	uc001wkl.2	O75843	OTTHUMG00000028760	ENST00000308724.5:c.902G>A	14.37:g.24033790C>T	ENSP00000312442:p.Arg301His		Somatic				AP1G2_ENST00000397120.3_Missense_Mutation_p.R301H|RP11-66N24.3_ENST00000555968.1_RNA	p.R301H	NM_003917.2	NP_003908.1	WXS	Illumina GAIIx	Phase_I	O75843	AP1G2_HUMAN		GBM - Glioblastoma multiforme(265;0.00672)	8	1657	-	all_cancers(95;0.000251)		301					D3DS51|O75504	Missense_Mutation	SNP	ENST00000308724.5	37	c.902G>A	CCDS9602.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	12.24	1.879888	0.33162	.	.	ENSG00000213983	ENST00000308724;ENST00000397120;ENST00000545295;ENST00000535852	T;T	0.12984	2.63;2.63	3.98	3.07	0.35406	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.331441	0.29480	N	0.012034	T	0.11495	0.0280	L	0.47716	1.5	0.33360	D	0.57219	B;B	0.18610	0.007;0.029	B;B	0.19148	0.015;0.024	T	0.06570	-1.0819	10	0.51188	T	0.08	-7.9542	5.562	0.17150	0.0:0.747:0.0:0.253	.	301;156	O75843;Q86V28	AP1G2_HUMAN;.	H	301;301;70;156	ENSP00000312442:R301H;ENSP00000380309:R301H	ENSP00000312442:R301H	R	-	2	0	AP1G2	23103630	0.080000	0.21391	0.995000	0.50966	0.585000	0.36419	-0.184000	0.09698	0.858000	0.35431	0.313000	0.20887	CGC		0.587	AP1G2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071812.4	NM_003917		5	216	0	0	0	1	0	5	216				
ATRX	546	broad.mit.edu	37	X	76764091	76764091	+	Missense_Mutation	SNP	T	T	A			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chrX:76764091T>A	ENST00000373344.5	-	35	7431	c.7217A>T	c.(7216-7218)cAg>cTg	p.Q2406L	ATRX_ENST00000395603.3_Missense_Mutation_p.Q2368L|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	2406					ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						AAGTATTCGCTGAACACAGCT	0.393			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"""Mis, F, N"""	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"""Pancreatic neuroendocrine tumors, paediatric GBM"""		0				bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						c.(7216-7218)cAg>cTg		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)						138.0	138.0	138.0					X																	76764091		2203	4296	6499	SO:0001583	missense	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76764091T>A	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.7217A>T	X.37:g.76764091T>A	ENSP00000362441:p.Gln2406Leu		Somatic				ATRX_ENST00000395603.3_Missense_Mutation_p.Q2368L|ATRX_ENST00000480283.1_5'UTR	p.Q2406L	NM_000489.3	NP_000480.2	WXS	Illumina GAIIx	Phase_I	P46100	ATRX_HUMAN			35	7431	-			2406					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Missense_Mutation	SNP	ENST00000373344.5	37	c.7217A>T	CCDS14434.1	.	.	.	.	.	.	.	.	.	.	T	11.61	1.688974	0.29962	.	.	ENSG00000085224	ENST00000373344;ENST00000395603	D;D	0.93366	-3.2;-3.21	5.15	5.15	0.70609	.	0.000000	0.64402	D	0.000001	D	0.94241	0.8151	L	0.34521	1.04	0.80722	D	1	D;D	0.63880	0.989;0.993	D;D	0.75020	0.985;0.977	D	0.94982	0.8126	10	0.72032	D	0.01	.	14.3267	0.66526	0.0:0.0:0.0:1.0	.	2368;2406	P46100-4;P46100	.;ATRX_HUMAN	L	2406;2368	ENSP00000362441:Q2406L;ENSP00000378967:Q2368L	ENSP00000362441:Q2406L	Q	-	2	0	ATRX	76650747	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.436000	0.66538	1.830000	0.53286	0.437000	0.28790	CAG		0.393	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		4	184	0	0	0	1	0	4	184				
MT1H	4496	broad.mit.edu	37	16	56704858	56704858	+	Missense_Mutation	SNP	G	G	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr16:56704858G>T	ENST00000332374.4	+	3	214	c.143G>T	c.(142-144)tGc>tTc	p.C48F	MT1H_ENST00000569155.1_3'UTR|MT1G_ENST00000568675.1_5'Flank|MT1G_ENST00000379811.3_5'Flank|MT1G_ENST00000569500.1_5'Flank|MT1G_ENST00000444837.2_5'Flank	NM_005951.2	NP_005942.1	P80294	MT1H_HUMAN	metallothionein 1H	48	Alpha.				cellular response to cadmium ion (GO:0071276)|cellular response to zinc ion (GO:0071294)|negative regulation of growth (GO:0045926)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	zinc ion binding (GO:0008270)			lung(5)	5						GCCCAGGGCTGCATCTGCAAA	0.567																																						ENST00000332374.4																			0				lung(5)	5						c.(142-144)tGc>tTc		metallothionein 1H							111.0	104.0	106.0					16																	56704858		2198	4300	6498	SO:0001583	missense	4496						metal ion binding|protein binding	g.chr16:56704858G>T	BC008408	CCDS10767.1	16q13	2008-02-05			ENSG00000205358	ENSG00000205358		"""Metallothioneins"""	7400	protein-coding gene	gene with protein product		156354		MT1		2286373, 8049263	Standard	NM_005951		Approved		uc002ejw.3	P80294	OTTHUMG00000133283	ENST00000332374.4:c.143G>T	16.37:g.56704858G>T	ENSP00000330587:p.Cys48Phe		Somatic				MT1H_ENST00000569155.1_3'UTR	p.C48F	NM_005951.2	NP_005942.1	WXS	Illumina GAIIx	Phase_I	P80294	MT1H_HUMAN			3	214	+			48			Alpha.		B2RUY6	Missense_Mutation	SNP	ENST00000332374.4	37	c.143G>T	CCDS10767.1	.	.	.	.	.	.	.	.	.	.	G	9.371	1.070588	0.20147	.	.	ENSG00000205358	ENST00000332374	T	0.46063	0.88	2.6	1.61	0.23674	Metallothionein domain, vertebrate (1);Metallothionein domain (1);	0.000000	0.85682	U	0.000000	T	0.37625	0.1010	.	.	.	0.80722	D	1	P	0.37708	0.606	B	0.41088	0.347	T	0.15954	-1.0419	9	0.87932	D	0	0.0154	6.5639	0.22501	0.1538:0.0:0.8462:0.0	.	48	P80294	MT1H_HUMAN	F	48	ENSP00000330587:C48F	ENSP00000330587:C48F	C	+	2	0	MT1H	55262359	1.000000	0.71417	0.554000	0.28268	0.079000	0.17450	4.771000	0.62318	0.194000	0.20326	0.313000	0.20887	TGC		0.567	MT1H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257063.1	NM_005951		53	97	1	0	4.10029e-35	1	4.8534e-35	53	97				
RHCE	6006	broad.mit.edu	37	1	25718602	25718602	+	Missense_Mutation	SNP	A	A	G			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr1:25718602A>G	ENST00000294413.7	-	4	575	c.517T>C	c.(517-519)Tac>Cac	p.Y173H	RHCE_ENST00000349320.3_Missense_Mutation_p.Y157H|RHCE_ENST00000340849.4_Intron|RHCE_ENST00000346452.4_Intron|RHCE_ENST00000374352.2_Missense_Mutation_p.Y157H|RHCE_ENST00000243186.6_Missense_Mutation_p.Y173H|RHCE_ENST00000413854.1_Missense_Mutation_p.Y173H|RHCE_ENST00000425135.1_Missense_Mutation_p.Y173H|RHCE_ENST00000349438.4_Missense_Mutation_p.Y173H|RHCE_ENST00000455194.1_Intron	NM_020485.4	NP_065231	P18577	RHCE_HUMAN	Rh blood group, CcEe antigens	173						integral component of plasma membrane (GO:0005887)	ammonium transmembrane transporter activity (GO:0008519)			endometrium(8)|large_intestine(6)|lung(3)	17		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0426)|OV - Ovarian serous cystadenocarcinoma(117;2.12e-27)|Colorectal(126;3.16e-08)|COAD - Colon adenocarcinoma(152;1.72e-06)|STAD - Stomach adenocarcinoma(196;0.00035)|KIRC - Kidney renal clear cell carcinoma(1967;0.000769)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|GBM - Glioblastoma multiforme(114;0.00458)|READ - Rectum adenocarcinoma(331;0.0649)		GCGAACACGTAGAAGTGCCTC	0.537																																						ENST00000349320.3																			0				endometrium(8)|large_intestine(6)|lung(3)	17						c.(469-471)Tac>Cac		Rh blood group, CcEe antigens							244.0	197.0	213.0					1																	25718602		2203	4300	6503	SO:0001583	missense	6006					integral to plasma membrane		g.chr1:25718602A>G	BC075081	CCDS30634.1, CCDS30635.1, CCDS30636.1, CCDS30637.1	1p36.11	2014-09-17	2006-02-23		ENSG00000188672	ENSG00000188672		"""CD molecules"", ""Blood group antigens"""	10008	protein-coding gene	gene with protein product		111700	"""Rhesus blood group, CcEe antigens"""	RH		8220426	Standard	NM_138618		Approved	CD240CE	uc001bkf.3	P18577	OTTHUMG00000007650	ENST00000294413.7:c.517T>C	1.37:g.25718602A>G	ENSP00000294413:p.Tyr173His		Somatic				RHCE_ENST00000349438.4_Missense_Mutation_p.Y173H|RHCE_ENST00000413854.1_Missense_Mutation_p.Y173H|RHCE_ENST00000346452.4_Intron|RHCE_ENST00000340849.4_Intron|RHCE_ENST00000243186.6_Missense_Mutation_p.Y173H|RHCE_ENST00000455194.1_Intron|RHCE_ENST00000425135.1_Missense_Mutation_p.Y173H|RHCE_ENST00000294413.7_Missense_Mutation_p.Y173H|RHCE_ENST00000374352.2_Missense_Mutation_p.Y157H	p.Y157H			WXS	Illumina GAIIx	Phase_I	P18577	RHCE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0426)|OV - Ovarian serous cystadenocarcinoma(117;2.12e-27)|Colorectal(126;3.16e-08)|COAD - Colon adenocarcinoma(152;1.72e-06)|STAD - Stomach adenocarcinoma(196;0.00035)|KIRC - Kidney renal clear cell carcinoma(1967;0.000769)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|GBM - Glioblastoma multiforme(114;0.00458)|READ - Rectum adenocarcinoma(331;0.0649)	6	857	-		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)	173					A7DW68|B7UDF3|B7UDF4|B7UDF5|B7UDF6|B7UDF7|B7UDF8|B7UDF9|B7UDG0|B7UDG1|B7UDG2|B7UDG3|Q02163|Q02164|Q02165|Q16160|Q2MJW0|Q2VC86|Q3LTM6|Q6AZX5|Q6J2U3|Q7RU06|Q8IZT2|Q8IZT3|Q8IZT4|Q8IZT5|Q9UD13|Q9UD14|Q9UD15|Q9UD16|Q9UD73|Q9UD74|Q9UEC2|Q9UEC3|Q9UPN0	Missense_Mutation	SNP	ENST00000294413.7	37	c.469T>C	CCDS30635.1	.	.	.	.	.	.	.	.	.	.	a	0.001	-3.005233	0.00044	.	.	ENSG00000188672	ENST00000413854;ENST00000374352;ENST00000243186;ENST00000425135;ENST00000349320;ENST00000294413;ENST00000447203;ENST00000349438	T;T;T;T;T;T;T	0.05382	3.45;3.45;3.45;3.45;3.45;3.45;3.45	3.99	1.97	0.26223	Ammonium transporter AmtB-like (3);	0.106561	0.64402	N	0.000006	T	0.00875	0.0029	N	0.00035	-2.55	0.09310	N	1	B;B;B	0.06786	0.001;0.0;0.001	B;B;B	0.13407	0.002;0.001;0.009	T	0.45469	-0.9259	10	0.02654	T	1	-7.174	6.2105	0.20626	0.2569:0.0:0.7431:0.0	.	157;173;173	Q5VSJ9;Q5VSJ8;P18577	.;.;RHCE_HUMAN	H	173;157;173;173;157;173;173;173	ENSP00000415417:Y173H;ENSP00000363472:Y157H;ENSP00000243186:Y173H;ENSP00000392809:Y173H;ENSP00000311185:Y157H;ENSP00000294413:Y173H;ENSP00000334570:Y173H	ENSP00000243186:Y173H	Y	-	1	0	RHCE	25591189	0.844000	0.29557	0.007000	0.13788	0.001000	0.01503	2.342000	0.43992	0.369000	0.24510	-1.277000	0.01392	TAC		0.537	RHCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020312.2	NM_020485		5	412	0	0	0	1	0	5	412				
RCHY1	25898	broad.mit.edu	37	4	76407825	76407825	+	Missense_Mutation	SNP	C	C	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr4:76407825C>T	ENST00000324439.5	-	9	1107	c.709G>A	c.(709-711)Ggc>Agc	p.G237S	RCHY1_ENST00000451788.1_3'UTR|RCHY1_ENST00000380840.2_Missense_Mutation_p.G197S|RCHY1_ENST00000512706.1_Missense_Mutation_p.G215S|RCHY1_ENST00000513257.1_Missense_Mutation_p.G228S	NM_001278536.1|NM_001278538.1|NM_001278539.1	NP_001265465.1|NP_001265467.1|NP_001265468.1	Q96PM5	ZN363_HUMAN	ring finger and CHY zinc finger domain containing 1, E3 ubiquitin protein ligase	237					positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination (GO:0031398)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|p53 binding (GO:0002039)|protein homodimerization activity (GO:0042803)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			large_intestine(2)|pancreas(1)	3			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			CATTTCATGCCTAATATATGA	0.348																																						ENST00000324439.5																			0				large_intestine(2)|pancreas(1)	3						c.(709-711)Ggc>Agc		ring finger and CHY zinc finger domain containing 1, E3 ubiquitin protein ligase							106.0	99.0	101.0					4																	76407825		2203	4300	6503	SO:0001583	missense	25898				positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein autoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nuclear speck|ubiquitin ligase complex	electron carrier activity|p53 binding|protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr4:76407825C>T	AF255666	CCDS3567.1, CCDS34012.1, CCDS63990.1, CCDS63991.1, CCDS63992.1	4q21.1-q21.3	2014-02-17	2012-02-23	2004-03-30	ENSG00000163743	ENSG00000163743		"""RING-type (C3HC4) zinc fingers"""	17479	protein-coding gene	gene with protein product	"""androgen-receptor N-terminal-interacting protein"", ""p53-induced protein with a RING-H2 domain"", ""zinc finger, CHY-type"""	607680	"""zinc finger protein 363"", ""ring finger and CHY zinc finger domain containing 1"""	ZNF363		12654245	Standard	NM_015436		Approved	CHIMP, DKFZp586C1620, PRO1996, RNF199, ARNIP, PIRH2, ZCHY	uc003hik.3	Q96PM5	OTTHUMG00000130105	ENST00000324439.5:c.709G>A	4.37:g.76407825C>T	ENSP00000321239:p.Gly237Ser		Somatic				RCHY1_ENST00000512706.1_Missense_Mutation_p.G215S|RCHY1_ENST00000380840.2_Missense_Mutation_p.G197S|RCHY1_ENST00000513257.1_Missense_Mutation_p.G228S|RCHY1_ENST00000451788.1_3'UTR	p.G237S	NM_001278536.1|NM_001278538.1|NM_001278539.1	NP_001265465.1|NP_001265467.1|NP_001265468.1	WXS	Illumina GAIIx	Phase_I	Q96PM5	ZN363_HUMAN	Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)		9	1107	-			237					B3KRG3|C7E541|C7E542|C7E543|D3YRV2|E7EMC8|E7ETW5|J3KPI0|Q2KN33|Q59GN7|Q86X26|Q96PR5	Missense_Mutation	SNP	ENST00000324439.5	37	c.709G>A	CCDS3567.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.707535	0.89018	.	.	ENSG00000163743	ENST00000324439;ENST00000380840;ENST00000512706;ENST00000513257;ENST00000507014	T;T;T	0.33216	1.45;1.42;1.46	5.87	5.03	0.67393	Rubredoxin-type Fe(Cys)4 protein (1);	0.000000	0.85682	D	0.000000	T	0.61388	0.2343	M	0.89785	3.06	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.998;0.999;1.0	T	0.68010	-0.5522	10	0.51188	T	0.08	-19.0635	12.6794	0.56914	0.0:0.9205:0.0:0.0795	.	188;215;228;237	E7EMC8;E7ETW5;Q96PM5-2;Q96PM5	.;.;.;ZN363_HUMAN	S	237;197;215;228;188	ENSP00000321239:G237S;ENSP00000370220:G197S;ENSP00000423976:G215S	ENSP00000321239:G237S	G	-	1	0	RCHY1	76626849	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.328000	0.72915	1.479000	0.48272	0.650000	0.86243	GGC		0.348	RCHY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252411.2	NM_015436		4	214	0	0	0	1	0	4	214				
KANSL2	54934	broad.mit.edu	37	12	49061476	49061476	+	Splice_Site	SNP	G	G	A			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr12:49061476G>A	ENST00000420613.2	-	7	1020	c.973C>T	c.(973-975)Cat>Tat	p.H325Y	SNORA2B_ENST00000384583.1_RNA|KANSL2_ENST00000553086.1_Splice_Site_p.H325Y|KANSL2_ENST00000550347.1_Splice_Site_p.H508Y|KANSL2_ENST00000357861.3_Splice_Site_p.Q130*	NM_017822.3	NP_060292.3	Q9H9L4	KANL2_HUMAN	KAT8 regulatory NSL complex subunit 2	325					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)	histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)											AAAAAGATACGGGTAAGGCAG	0.448																																						ENST00000550347.1																			0											c.e6+1		KAT8 regulatory NSL complex subunit 2							141.0	136.0	138.0					12																	49061476		1953	4146	6099	SO:0001630	splice_region_variant	54934							g.chr12:49061476G>A	AK094528	CCDS44869.1	12q13.11	2011-10-31	2011-10-31	2011-10-31	ENSG00000139620	ENSG00000139620			26024	protein-coding gene	gene with protein product		615488	"""chromosome 12 open reading frame 41"""	C12orf41		12477932	Standard	NM_017822		Approved	FLJ20436, NSL2	uc001rrz.2	Q9H9L4	OTTHUMG00000170392	ENST00000420613.2:c.973+1C>T	12.37:g.49061476G>A			Somatic				KANSL2_ENST00000357861.3_Splice_Site_p.Q130_splice|KANSL2_ENST00000420613.2_Splice_Site_p.H325_splice|KANSL2_ENST00000553086.1_Splice_Site_p.H325_splice	p.H508_splice			WXS	Illumina GAIIx	Phase_I	Q9H9L4	CL041_HUMAN			6	1565	-			325					Q8N3B5|Q96CV0|Q9NX51	Splice_Site	SNP	ENST00000420613.2	37	c.1522_splice	CCDS44869.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	42|42	9.461493|9.461493	0.99177|0.99177	.|.	.|.	ENSG00000139620|ENSG00000139620	ENST00000550347;ENST00000420613;ENST00000547087;ENST00000553086|ENST00000357861	T;T;T;T|.	0.72835|.	-0.69;-0.69;-0.69;-0.69|.	5.68|5.68	5.68|5.68	0.88126|0.88126	.|.	0.047916|.	0.85682|.	D|.	0.000000|.	T|.	0.79155|.	0.4398|.	M|M	0.80982|0.80982	2.52|2.52	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0|.	D;D;D;D|.	0.80764|.	0.992;0.991;0.994;0.983|.	T|.	0.78816|.	-0.2055|.	9|.	.|.	.|.	.|.	-16.6187|-16.6187	18.9233|18.9233	0.92534|0.92534	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	508;325;130;325|.	F8VX10;Q9H9L4;Q9H9L4-2;F8VXI8|.	.;CL041_HUMAN;.;.|.	Y|X	508;325;73;325|130	ENSP00000449747:H508Y;ENSP00000415436:H325Y;ENSP00000447608:H73Y;ENSP00000448833:H325Y|.	.|.	H|Q	-|-	1|1	0|0	C12orf41|C12orf41	47347743|47347743	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.980000|0.980000	0.70556|0.70556	8.574000|8.574000	0.90763|0.90763	2.838000|2.838000	0.97847|0.97847	0.563000|0.563000	0.77884|0.77884	CAT|CAG		0.448	KANSL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408841.1	NM_017822	Missense_Mutation	6	346	0	0	0	1	0	6	346				
CIDEC	63924	broad.mit.edu	37	3	9911695	9911695	+	Missense_Mutation	SNP	C	C	T	rs200012502		TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr3:9911695C>T	ENST00000336832.2	-	5	564	c.425G>A	c.(424-426)cGt>cAt	p.R142H	CIDEC_ENST00000383817.1_Intron|CIDEC_ENST00000443115.1_Intron|CIDEC_ENST00000430427.1_Missense_Mutation_p.R152H|CIDEC_ENST00000423850.1_Missense_Mutation_p.R68H|CIDEC_ENST00000455015.1_Missense_Mutation_p.R68H	NM_001199552.1|NM_001199623.1|NM_022094.3	NP_001186481.1|NP_001186552.1|NP_071377.2	Q96AQ7	CIDEC_HUMAN	cell death-inducing DFFA-like effector c	142					apoptotic process (GO:0006915)|execution phase of apoptosis (GO:0097194)|lipid particle organization (GO:0034389)|regulation of apoptotic process (GO:0042981)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|lipid particle (GO:0005811)|nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)|skin(1)	8	Medulloblastoma(99;0.227)					AAACGTTACACGGGCCACATC	0.488																																						ENST00000336832.2																			0				breast(2)|central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)|skin(1)	8						c.(424-426)cGt>cAt		cell death-inducing DFFA-like effector c		C	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	159.0	146.0	151.0		455,425,464,425	3.2	0.4	3		151	3,8597	3.7+/-12.6	0,3,4297	no	missense,missense,missense,missense	CIDEC	NM_001199551.1,NM_001199552.1,NM_001199623.1,NM_022094.3	29,29,29,29	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	152/249,142/239,155/252,142/239	9911695	3,13003	2203	4300	6503	SO:0001583	missense	63924				apoptosis|induction of apoptosis	cytosol|focal adhesion|nucleus		g.chr3:9911695C>T		CCDS2587.1, CCDS56239.1, CCDS74897.1	3p25	2004-07-26			ENSG00000187288	ENSG00000187288			24229	protein-coding gene	gene with protein product		612120				12429024	Standard	NM_001199623		Approved	CIDE-3, FLJ20871, Fsp27	uc021wsw.1	Q96AQ7	OTTHUMG00000128522	ENST00000336832.2:c.425G>A	3.37:g.9911695C>T	ENSP00000338642:p.Arg142His		Somatic				CIDEC_ENST00000443115.1_Intron|CIDEC_ENST00000430427.1_Missense_Mutation_p.R152H|CIDEC_ENST00000455015.1_Missense_Mutation_p.R68H|CIDEC_ENST00000383817.1_Intron|CIDEC_ENST00000423850.1_Missense_Mutation_p.R68H	p.R142H	NM_001199552.1|NM_001199623.1|NM_022094.3	NP_001186481.1|NP_001186552.1|NP_071377.2	WXS	Illumina GAIIx	Phase_I	Q96AQ7	CIDEC_HUMAN			5	564	-	Medulloblastoma(99;0.227)		142					C9JMN7|Q67DW9|Q9GZY9	Missense_Mutation	SNP	ENST00000336832.2	37	c.425G>A	CCDS2587.1	.	.	.	.	.	.	.	.	.	.	C	14.67	2.605513	0.46527	0.0	3.49E-4	ENSG00000187288	ENST00000336832;ENST00000455015;ENST00000423850;ENST00000430427	T;T;T;T	0.81163	-1.46;-1.46;-1.46;-1.46	6.07	3.18	0.36537	.	0.660749	0.16445	N	0.214102	T	0.79545	0.4464	M	0.69358	2.11	0.23132	N	0.99824	P;D	0.54207	0.909;0.965	B;P	0.45639	0.212;0.488	T	0.70601	-0.4827	10	0.56958	D	0.05	-0.9907	9.7132	0.40258	0.0:0.7234:0.1281:0.1485	.	142;152	Q96AQ7;C9JMN7	CIDEC_HUMAN;.	H	142;68;68;152	ENSP00000338642:R142H;ENSP00000392975:R68H;ENSP00000400649:R68H;ENSP00000408631:R152H	ENSP00000338642:R142H	R	-	2	0	CIDEC	9886695	0.889000	0.30405	0.384000	0.26145	0.907000	0.53573	1.772000	0.38552	0.912000	0.36772	0.655000	0.94253	CGT		0.488	CIDEC-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000250334.1	NM_022094		6	689	0	0	0	1	0	6	689				
SYBU	55638	broad.mit.edu	37	8	110631148	110631148	+	Missense_Mutation	SNP	G	G	A			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr8:110631148G>A	ENST00000422135.1	-	4	865	c.350C>T	c.(349-351)aCg>aTg	p.T117M	SYBU_ENST00000408889.3_De_novo_Start_InFrame|SYBU_ENST00000533065.1_De_novo_Start_InFrame|SYBU_ENST00000419099.1_Missense_Mutation_p.T116M|SYBU_ENST00000399066.3_Missense_Mutation_p.T114M|SYBU_ENST00000533895.1_Missense_Mutation_p.T116M|SYBU_ENST00000528647.1_Missense_Mutation_p.T116M|SYBU_ENST00000424158.2_Missense_Mutation_p.T122M|SYBU_ENST00000446070.2_Missense_Mutation_p.T116M|SYBU_ENST00000440310.1_Missense_Mutation_p.T117M|SYBU_ENST00000533171.1_Missense_Mutation_p.T117M|SYBU_ENST00000276646.9_Missense_Mutation_p.T117M|SYBU_ENST00000528331.1_De_novo_Start_InFrame|SYBU_ENST00000532779.1_Missense_Mutation_p.T49M|SYBU_ENST00000408908.2_Missense_Mutation_p.T117M|SYBU_ENST00000433638.1_Missense_Mutation_p.T117M	NM_001099744.1	NP_001093214.1	Q9NX95	SYBU_HUMAN	syntabulin (syntaxin-interacting)	117	Ser-rich.|Sufficient for interaction with KIF5B.				regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)	cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|dense body (GO:0097433)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				NS(1)|breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	30						CATTCCAATCGTGCATTTCTT	0.478																																						ENST00000399066.3																			0				NS(1)|breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	30						c.(340-342)aCg>aTg		syntabulin (syntaxin-interacting)							163.0	159.0	160.0					8																	110631148		1925	4140	6065	SO:0001583	missense	55638					cytoplasmic membrane-bounded vesicle|cytoskeleton|Golgi membrane|integral to membrane		g.chr8:110631148G>A	AB040905	CCDS43763.1, CCDS43764.1, CCDS47912.1, CCDS55271.1	8q23.2	2010-08-27				ENSG00000147642			26011	protein-coding gene	gene with protein product	"""syntaphilin-like"""	611568				17611281, 16750881, 16157705, 15656992, 15459722	Standard	NM_001099743		Approved	FLJ20366, GOLSYN, KIAA1472, OCSYN, SNPHL	uc003ynj.4	Q9NX95		ENST00000422135.1:c.350C>T	8.37:g.110631148G>A	ENSP00000407118:p.Thr117Met		Somatic				SYBU_ENST00000440310.1_Missense_Mutation_p.T117M|SYBU_ENST00000533065.1_De_novo_Start_InFrame|SYBU_ENST00000419099.1_Missense_Mutation_p.T116M|SYBU_ENST00000533895.1_Missense_Mutation_p.T116M|SYBU_ENST00000528647.1_Missense_Mutation_p.T116M|SYBU_ENST00000276646.9_Missense_Mutation_p.T117M|SYBU_ENST00000528331.1_De_novo_Start_InFrame|SYBU_ENST00000408889.3_De_novo_Start_InFrame|SYBU_ENST00000422135.1_Missense_Mutation_p.T117M|SYBU_ENST00000446070.2_Missense_Mutation_p.T116M|SYBU_ENST00000533171.1_Missense_Mutation_p.T117M|SYBU_ENST00000424158.2_Missense_Mutation_p.T122M|SYBU_ENST00000532779.1_Missense_Mutation_p.T49M|SYBU_ENST00000408908.2_Missense_Mutation_p.T117M|SYBU_ENST00000433638.1_Missense_Mutation_p.T117M	p.T114M	NM_001099756.1	NP_001093226.1	WXS	Illumina GAIIx	Phase_I	Q9NX95	SYBU_HUMAN			2	1068	-			117			Ser-rich.|Sufficient for interaction with KIF5B.		A8K354|B3KQX3|B3KU61|Q5R1T1|Q5R1T2|Q5R1T3|Q5Y2M6|Q8ND49|Q8TCR6|Q96D80|Q9P256	Missense_Mutation	SNP	ENST00000422135.1	37	c.341C>T	CCDS47912.1	.	.	.	.	.	.	.	.	.	.	G	16.87	3.240808	0.58995	.	.	ENSG00000147642	ENST00000533895;ENST00000424158;ENST00000532779;ENST00000399066;ENST00000446070;ENST00000276646;ENST00000528647;ENST00000422135;ENST00000419099;ENST00000433638;ENST00000408908;ENST00000440310;ENST00000533171;ENST00000529190;ENST00000533821;ENST00000534501;ENST00000524720	.	.	.	5.91	3.92	0.45320	.	0.250386	0.45361	D	0.000375	T	0.52933	0.1765	L	0.44542	1.39	0.44834	D	0.997842	D;D;D;D	0.63046	0.992;0.981;0.981;0.981	P;P;P;P	0.53861	0.736;0.528;0.454;0.578	T	0.54022	-0.8355	9	0.54805	T	0.06	-2.766	8.1806	0.31309	0.0:0.3628:0.3922:0.245	.	49;116;117;114	Q9NX95-2;Q9NX95-3;Q9NX95;Q9NX95-4	.;.;SYBU_HUMAN;.	M	116;122;49;114;116;117;116;117;116;117;117;117;117;116;116;117;117	.	ENSP00000276646:T117M	T	-	2	0	SYBU	110700324	0.767000	0.28508	0.773000	0.31616	0.901000	0.52897	1.027000	0.30115	1.459000	0.47892	0.655000	0.94253	ACG		0.478	SYBU-204	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000385501.1	NM_017786		7	362	0	0	0	1	0	7	362				
DAXX	1616	broad.mit.edu	37	6	33287346	33287346	+	Missense_Mutation	SNP	G	G	A	rs371054058		TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr6:33287346G>A	ENST00000374542.5	-	6	1955	c.1751C>T	c.(1750-1752)aCg>aTg	p.T584M	ZBTB22_ENST00000431845.2_5'Flank|ZBTB22_ENST00000418724.1_5'Flank|DAXX_ENST00000266000.6_Missense_Mutation_p.T584M|DAXX_ENST00000414083.2_Missense_Mutation_p.T509M|DAXX_ENST00000477162.1_5'Flank	NM_001141969.1|NM_001141970.1|NM_001350.4	NP_001135441.1|NP_001135442.1|NP_001341.1	Q9UER7	DAXX_HUMAN	death-domain associated protein	584	Interaction with MAP3K5.				activation of JUN kinase activity (GO:0007257)|androgen receptor signaling pathway (GO:0030521)|apoptotic process (GO:0006915)|chromatin remodeling (GO:0006338)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|mitotic cytokinesis (GO:0000281)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of neuron death (GO:1901216)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein ubiquitination (GO:0031396)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|PML body (GO:0016605)|SWI/SNF superfamily-type complex (GO:0070603)	androgen receptor binding (GO:0050681)|enzyme binding (GO:0019899)|heat shock protein binding (GO:0031072)|histone binding (GO:0042393)|p53 binding (GO:0002039)|protein homodimerization activity (GO:0042803)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|receptor signaling protein activity (GO:0005057)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	55						GGAAATGTCCGTCTCCACAGA	0.532			"""Mis, F, N"""		Pancreatic neuroendocrine tumors. Paediatric GBM																																	ENST00000374542.5				Rec	yes		6	6p21.3	1616	"""Mis, F, N"""	death-domain associated protein			E			Pancreatic neuroendocrine tumors. Paediatric GBM		0				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	55						c.(1750-1752)aCg>aTg		death-domain associated protein		G	MET/THR,MET/THR,MET/THR	0,4406		0,0,2203	81.0	84.0	83.0		1751,1787,1751	-0.7	0.0	6		83	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	DAXX	NM_001350.4,NM_001141970.1,NM_001141969.1	81,81,81	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign,benign	584/741,596/753,584/741	33287346	1,13005	2203	4300	6503	SO:0001583	missense	1616				activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent	chromosome, centromeric region|cytosol|nucleolus|PML body	androgen receptor binding|heat shock protein binding|p53 binding|protein homodimerization activity|protein N-terminus binding|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding	g.chr6:33287346G>A	AF006041	CCDS4776.1, CCDS59008.1	6p21.3	2008-08-29	2008-08-29			ENSG00000204209			2681	protein-coding gene	gene with protein product		603186	"""death-associated protein 6"""			9407001, 9215629	Standard	NM_001141970		Approved	DAP6	uc011dre.2	Q9UER7		ENST00000374542.5:c.1751C>T	6.37:g.33287346G>A	ENSP00000363668:p.Thr584Met		Somatic				DAXX_ENST00000414083.2_Missense_Mutation_p.T509M|DAXX_ENST00000266000.6_Missense_Mutation_p.T584M	p.T584M	NM_001141969.1|NM_001141970.1|NM_001350.4	NP_001135441.1|NP_001135442.1|NP_001341.1	WXS	Illumina GAIIx	Phase_I	Q9UER7	DAXX_HUMAN			6	1955	-			584			Interaction with MAP3K5.		B4E1I3|F5H082|O14747|O15141|O15208|Q5STK9|Q9BWI3	Missense_Mutation	SNP	ENST00000374542.5	37	c.1751C>T	CCDS4776.1	.	.	.	.	.	.	.	.	.	.	G	3.186	-0.166949	0.06461	0.0	1.16E-4	ENSG00000204209	ENST00000266000;ENST00000374542;ENST00000414083	.	.	.	4.44	-0.686	0.11324	.	0.839641	0.10851	N	0.627178	T	0.05227	0.0139	N	0.08118	0	0.09310	N	1	B;B	0.12630	0.002;0.006	B;B	0.06405	0.002;0.002	T	0.37663	-0.9696	9	0.41790	T	0.15	0.0036	4.6396	0.12541	0.1954:0.2467:0.4739:0.084	.	596;584	B4E1C1;Q9UER7	.;DAXX_HUMAN	M	584;584;509	.	ENSP00000266000:T584M	T	-	2	0	DAXX	33395324	0.000000	0.05858	0.005000	0.12908	0.014000	0.08584	-0.179000	0.09768	-0.716000	0.04962	-2.146000	0.00336	ACG		0.532	DAXX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076403.1			4	122	0	0	0	1	0	4	122				
MMP19	4327	broad.mit.edu	37	12	56230903	56230903	+	Missense_Mutation	SNP	A	A	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr12:56230903A>T	ENST00000322569.4	-	9	1535	c.1444T>A	c.(1444-1446)Tca>Aca	p.S482T	MMP19_ENST00000409200.3_3'UTR|MMP19_ENST00000394182.1_Missense_Mutation_p.S196T|TMEM198B_ENST00000478241.1_RNA|MMP19_ENST00000548629.1_Missense_Mutation_p.S459T	NM_002429.4	NP_002420.1	Q99542	MMP19_HUMAN	matrix metallopeptidase 19	482					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|luteolysis (GO:0001554)|ovarian follicle development (GO:0001541)|ovulation from ovarian follicle (GO:0001542)|proteolysis (GO:0006508)|response to cAMP (GO:0051591)|response to hormone (GO:0009725)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	26					Marimastat(DB00786)	TTCCCACCTGATGGGGTAGTG	0.522																																						ENST00000394182.1																			0				endometrium(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	26						c.(586-588)Tca>Aca		matrix metallopeptidase 19							248.0	245.0	246.0					12																	56230903		2203	4300	6503	SO:0001583	missense	4327				angiogenesis|cell differentiation|collagen catabolic process|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr12:56230903A>T	X92521	CCDS8895.1, CCDS61146.1	12q14	2005-08-08	2005-08-08			ENSG00000123342			7165	protein-coding gene	gene with protein product		601807	"""matrix metalloproteinase 19"""	MMP18		9232430	Standard	NM_002429		Approved	RASI-1	uc001sib.4	Q99542	OTTHUMG00000170216	ENST00000322569.4:c.1444T>A	12.37:g.56230903A>T	ENSP00000313437:p.Ser482Thr		Somatic				MMP19_ENST00000548629.1_Missense_Mutation_p.S459T|MMP19_ENST00000409200.3_3'UTR|MMP19_ENST00000322569.4_Missense_Mutation_p.S482T	p.S196T			WXS	Illumina GAIIx	Phase_I	Q99542	MMP19_HUMAN			4	585	-			482					B4E030|O15278|O95606|Q99580	Missense_Mutation	SNP	ENST00000322569.4	37	c.586T>A	CCDS8895.1	.	.	.	.	.	.	.	.	.	.	A	10.82	1.458261	0.26161	.	.	ENSG00000123342	ENST00000394182;ENST00000322569;ENST00000548629	T;T;T	0.17213	4.55;2.46;2.29	5.71	-1.72	0.08107	.	1.775360	0.02935	N	0.139662	T	0.09379	0.0231	N	0.24115	0.695	0.09310	N	1	B;B	0.10296	0.001;0.003	B;B	0.12156	0.001;0.007	T	0.19549	-1.0302	10	0.12766	T	0.61	.	1.2218	0.01925	0.4167:0.284:0.1617:0.1376	.	482;196	Q99542;Q99542-3	MMP19_HUMAN;.	T	196;482;459	ENSP00000377736:S196T;ENSP00000313437:S482T;ENSP00000446979:S459T	ENSP00000313437:S482T	S	-	1	0	MMP19	54517170	0.001000	0.12720	0.000000	0.03702	0.015000	0.08874	0.380000	0.20602	-0.178000	0.10672	0.459000	0.35465	TCA		0.522	MMP19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408023.1	NM_002429		5	556	0	0	0	1	0	5	556				
ARNT	405	broad.mit.edu	37	1	150804293	150804293	+	Splice_Site	SNP	C	C	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr1:150804293C>T	ENST00000358595.5	-	10	1156		c.e10+1		ARNT_ENST00000505755.1_Splice_Site|ARNT_ENST00000354396.2_Splice_Site|ARNT_ENST00000468970.1_5'UTR|ARNT_ENST00000515192.1_Splice_Site	NM_001197325.1|NM_001668.3|NM_178427.2	NP_001184254.1|NP_001659.1|NP_848514.1	P27540	ARNT_HUMAN	aryl hydrocarbon receptor nuclear translocator						cell differentiation (GO:0030154)|cellular response to hypoxia (GO:0071456)|embryonic placenta development (GO:0001892)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of glycolytic process (GO:0045821)|positive regulation of hormone biosynthetic process (GO:0046886)|positive regulation of protein sumoylation (GO:0033235)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	aryl hydrocarbon receptor activity (GO:0004874)|aryl hydrocarbon receptor binding (GO:0017162)|enhancer binding (GO:0035326)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|prostate(2)|skin(4)|stomach(1)	34	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.02)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211)			CACTTTCTTACCTGCTGGGGG	0.438			T	ETV6	AML																																	ENST00000358595.5				Dom	yes		1	1q21	405	T	aryl hydrocarbon receptor nuclear translocator			L	ETV6		AML		0				central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|prostate(2)|skin(4)|stomach(1)	34						c.e10+1		aryl hydrocarbon receptor nuclear translocator							58.0	60.0	59.0					1																	150804293		2203	4300	6503	SO:0001630	splice_region_variant	405				positive regulation of hormone biosynthetic process|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|response to hypoxia		aryl hydrocarbon receptor binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity	g.chr1:150804293C>T	AF001307	CCDS970.1, CCDS971.1, CCDS65641.1, CCDS65642.1	1q21	2013-05-21			ENSG00000143437	ENSG00000143437		"""Basic helix-loop-helix proteins"""	700	protein-coding gene	gene with protein product		126110					Standard	NM_001668		Approved	HIF-1beta, bHLHe2	uc001evr.2	P27540	OTTHUMG00000035011	ENST00000358595.5:c.955+1G>A	1.37:g.150804293C>T			Somatic				ARNT_ENST00000468970.1_5'UTR|ARNT_ENST00000354396.2_Splice_Site|ARNT_ENST00000505755.1_Splice_Site|ARNT_ENST00000515192.1_Splice_Site		NM_001197325.1|NM_001668.3|NM_178427.2	NP_001184254.1|NP_001659.1|NP_848514.1	WXS	Illumina GAIIx	Phase_I	P27540	ARNT_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.02)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211)		10	1156	-	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)							B2R9H1|C4AMA1|F8WAP6|Q59ED4|Q5QP39|Q8NDC7	Splice_Site	SNP	ENST00000358595.5	37		CCDS970.1	.	.	.	.	.	.	.	.	.	.	C	18.03	3.533461	0.64972	.	.	ENSG00000143437	ENST00000358595;ENST00000368975;ENST00000354396;ENST00000515192;ENST00000394700;ENST00000505755	.	.	.	5.0	5.0	0.66597	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.2947	0.90141	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ARNT	149070917	1.000000	0.71417	1.000000	0.80357	0.756000	0.42949	5.627000	0.67784	2.289000	0.77006	0.557000	0.71058	.		0.438	ARNT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000084741.2		Intron	4	36	0	0	0	1	0	4	36				
MAX	4149	broad.mit.edu	37	14	65544756	65544756	+	Splice_Site	SNP	T	T	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr14:65544756T>C	ENST00000358664.4	-	4	302		c.e4-2		MAX_ENST00000341653.2_Intron|MAX_ENST00000557277.1_Splice_Site|MAX_ENST00000557746.1_Splice_Site|MAX_ENST00000555667.1_Splice_Site|MAX_ENST00000555932.1_Intron|MAX_ENST00000556443.1_Splice_Site|MAX_ENST00000284165.6_Splice_Site|MAX_ENST00000555419.1_Splice_Site|MAX_ENST00000358402.4_Splice_Site|MAX_ENST00000556979.1_Splice_Site	NM_002382.4	NP_002373.3	P61244	MAX_HUMAN	MYC associated factor X						cellular response to peptide hormone stimulus (GO:0071375)|cellular response to starvation (GO:0009267)|negative regulation of gene expression (GO:0010629)|neuron apoptotic process (GO:0051402)|protein complex assembly (GO:0006461)|response to axon injury (GO:0048678)|response to insulin (GO:0032868)|retina development in camera-type eye (GO:0060041)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)|PML body (GO:0016605)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	17				all cancers(60;0.000776)|OV - Ovarian serous cystadenocarcinoma(108;0.00359)|BRCA - Breast invasive adenocarcinoma(234;0.00999)		CCGGGATGCCTGTGGCAATAT	0.498																																						ENST00000284165.6																			0				breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	17						c.e4-2		MYC associated factor X							91.0	80.0	84.0					14																	65544756		2203	4300	6503	SO:0001630	splice_region_variant	4149				transcription from RNA polymerase II promoter	cytoplasm|MLL1 complex	sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr14:65544756T>C		CCDS9770.1, CCDS9771.1, CCDS9772.1, CCDS9774.1, CCDS41965.1	14q23	2014-09-17	2005-02-08		ENSG00000125952	ENSG00000125952		"""Basic helix-loop-helix proteins"""	6913	protein-coding gene	gene with protein product		154950	"""MAX protein"""			1557420	Standard	NM_002382		Approved	bHLHd4, bHLHd5, bHLHd6, bHLHd7, bHLHd8	uc001xif.2	P61244	OTTHUMG00000142809	ENST00000358664.4:c.172-2A>G	14.37:g.65544756T>C			Somatic				MAX_ENST00000556979.1_Splice_Site|MAX_ENST00000358402.4_Splice_Site|MAX_ENST00000557746.1_Splice_Site|MAX_ENST00000358664.4_Splice_Site|MAX_ENST00000555932.1_Intron|MAX_ENST00000341653.2_Intron|MAX_ENST00000557277.1_Splice_Site|MAX_ENST00000555667.1_Splice_Site|MAX_ENST00000555419.1_Splice_Site|MAX_ENST00000556443.1_Splice_Site		NM_145113.1	NP_660088.1	WXS	Illumina GAIIx	Phase_I	P61244	MAX_HUMAN		all cancers(60;0.000776)|OV - Ovarian serous cystadenocarcinoma(108;0.00359)|BRCA - Breast invasive adenocarcinoma(234;0.00999)	4	320	-								A6NH73|A8K265|A8K4G4|A8K824|P25912|P52163|Q14803|Q96CY8	Splice_Site	SNP	ENST00000358664.4	37		CCDS9771.1	.	.	.	.	.	.	.	.	.	.	T	16.76	3.212460	0.58452	.	.	ENSG00000125952	ENST00000358402;ENST00000284165;ENST00000358664;ENST00000555419;ENST00000441116;ENST00000556979;ENST00000555667;ENST00000557746;ENST00000556443	.	.	.	5.18	5.18	0.71444	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.0085	0.64481	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	MAX	64614509	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.947000	0.87758	1.932000	0.55993	0.460000	0.39030	.		0.498	MAX-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286386.1	NM_197957	Intron	15	68	0	0	0	1	0	15	68				
MAP2	4133	broad.mit.edu	37	2	210560726	210560726	+	Missense_Mutation	SNP	A	A	G			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr2:210560726A>G	ENST00000360351.4	+	7	4338	c.3832A>G	c.(3832-3834)Aaa>Gaa	p.K1278E	MAP2_ENST00000447185.1_Missense_Mutation_p.K1274E|MAP2_ENST00000199940.6_Intron|MAP2_ENST00000361559.4_Intron|MAP2_ENST00000392194.1_Intron	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2	1278					axonogenesis (GO:0007409)|cellular response to organic substance (GO:0071310)|central nervous system neuron development (GO:0021954)|dendrite morphogenesis (GO:0048813)|microtubule bundle formation (GO:0001578)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|nuclear periphery (GO:0034399)	dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Docetaxel(DB01248)|Estramustine(DB01196)|Paclitaxel(DB01229)	AAGTGAACACAAAGGAGTGAT	0.498																																					Pancreas(27;423 979 28787 29963)	ENST00000360351.4																			0				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124						c.(3832-3834)Aaa>Gaa		microtubule-associated protein 2	Estramustine(DB01196)						147.0	146.0	146.0					2																	210560726		2203	4300	6503	SO:0001583	missense	4133				central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity	g.chr2:210560726A>G		CCDS2384.1, CCDS2385.1, CCDS33369.1	2q34-q35	2008-05-27			ENSG00000078018	ENSG00000078018		"""A-kinase anchor proteins"""	6839	protein-coding gene	gene with protein product		157130				3103857, 7479905	Standard	XM_005246554		Approved	MAP2A, MAP2B, MAP2C	uc002vde.1	P11137	OTTHUMG00000132962	ENST00000360351.4:c.3832A>G	2.37:g.210560726A>G	ENSP00000353508:p.Lys1278Glu		Somatic				MAP2_ENST00000447185.1_Missense_Mutation_p.K1274E|MAP2_ENST00000392194.1_Intron|MAP2_ENST00000361559.4_Intron|MAP2_ENST00000199940.6_Intron	p.K1278E	NM_002374.3	NP_002365.3	WXS	Illumina GAIIx	Phase_I	P11137	MAP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	7	4338	+		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)	1278					Q17S04|Q8IUX2|Q99975|Q99976	Missense_Mutation	SNP	ENST00000360351.4	37	c.3832A>G	CCDS2384.1	.	.	.	.	.	.	.	.	.	.	A	14.93	2.681037	0.47886	.	.	ENSG00000078018	ENST00000360351;ENST00000447185	T;T	0.25085	1.82;1.82	5.6	5.6	0.85130	MAP2/Tau projection (1);	0.094242	0.46145	D	0.000313	T	0.44244	0.1284	L	0.56769	1.78	0.29989	N	0.817013	D;D	0.76494	0.998;0.999	D;D	0.80764	0.994;0.989	T	0.46373	-0.9196	10	0.48119	T	0.1	-20.1468	10.1789	0.42955	0.9257:0.0:0.0743:0.0	.	1274;1278	P11137-3;P11137	.;MAP2_HUMAN	E	1278;1274	ENSP00000353508:K1278E;ENSP00000392164:K1274E	ENSP00000353508:K1278E	K	+	1	0	MAP2	210268971	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	3.853000	0.55941	2.141000	0.66446	0.455000	0.32223	AAA		0.498	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256521.2	NM_001039538		21	181	0	0	0	1	0	21	181				
ADAMTS3	9508	broad.mit.edu	37	4	73414294	73414294	+	Silent	SNP	T	T	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr4:73414294T>C	ENST00000286657.4	-	3	441	c.405A>G	c.(403-405)agA>agG	p.R135R	ADAMTS3_ENST00000505193.1_5'UTR	NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	135					collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix organization (GO:0030198)|positive regulation of vascular endothelial growth factor signaling pathway (GO:1900748)|protein processing (GO:0016485)|vascular endothelial growth factor production (GO:0010573)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TTCTCCGGATTCTATACGTAG	0.498																																					NSCLC(168;1941 2048 2918 13048 43078)	ENST00000286657.4																			0				NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76						c.(403-405)agA>agG		ADAM metallopeptidase with thrombospondin type 1 motif, 3							224.0	221.0	222.0					4																	73414294		2203	4300	6503	SO:0001819	synonymous_variant	9508				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding	g.chr4:73414294T>C	AB002364	CCDS3553.1	4q21	2008-07-29	2005-08-19		ENSG00000156140	ENSG00000156140	3.4.24.-	"""ADAM metallopeptidases with thrombospondin type 1 motif"""	219	protein-coding gene	gene with protein product		605011	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 3"""			10094461	Standard	NM_014243		Approved	KIAA0366, ADAMTS-4	uc003hgk.2	O15072	OTTHUMG00000129912	ENST00000286657.4:c.405A>G	4.37:g.73414294T>C			Somatic				ADAMTS3_ENST00000505193.1_5'UTR	p.R135R	NM_014243.2	NP_055058.2	WXS	Illumina GAIIx	Phase_I	O15072	ATS3_HUMAN	Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		3	441	-			135					A1L3U9|Q9BXZ8	Silent	SNP	ENST00000286657.4	37	c.405A>G	CCDS3553.1																																																																																				0.498	ADAMTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252164.2			5	279	0	0	0	1	0	5	279				
LARP1B	55132	broad.mit.edu	37	4	129098058	129098058	+	Silent	SNP	G	G	A			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr4:129098058G>A	ENST00000326639.6	+	13	1891	c.1680G>A	c.(1678-1680)aaG>aaA	p.K560K	LARP1B_ENST00000264584.5_Intron|LARP1B_ENST00000441387.1_Silent_p.K560K|LARP1B_ENST00000354456.3_5'UTR	NM_018078.2	NP_060548.2	Q659C4	LAR1B_HUMAN	La ribonucleoprotein domain family, member 1B	560						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(11)|ovary(1)|prostate(3)	34						acattcccaagaaaggtaaca	0.393																																						ENST00000326639.6																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(11)|ovary(1)|prostate(3)	34						c.(1678-1680)aaG>aaA		La ribonucleoprotein domain family, member 1B							118.0	113.0	115.0					4																	129098058		2203	4300	6503	SO:0001819	synonymous_variant	55132						RNA binding	g.chr4:129098058G>A		CCDS3738.1, CCDS47133.1, CCDS64057.1	4q28.2	2009-06-09	2009-06-09	2009-06-09	ENSG00000138709	ENSG00000138709		"""La ribonucleoprotein domain containing"""	24704	protein-coding gene	gene with protein product			"""La ribonucleoprotein domain family, member 2"""	LARP2		12045101	Standard	NM_018078		Approved	FLJ10378, DKFZp434K245, DKFZp686E0316	uc003iga.3	Q659C4	OTTHUMG00000133343	ENST00000326639.6:c.1680G>A	4.37:g.129098058G>A			Somatic				LARP1B_ENST00000264584.5_Intron|LARP1B_ENST00000441387.1_Silent_p.K560K|LARP1B_ENST00000354456.3_5'UTR	p.K560K	NM_018078.2	NP_060548.2	WXS	Illumina GAIIx	Phase_I	Q659C4	LAR1B_HUMAN			13	1891	+			560					Q2YDB6|Q4W599|Q4W5B2|Q659A0|Q6P5X2|Q7Z3F7|Q86VK7|Q8N6F4|Q8N7H4|Q8NAF2|Q9H5E7|Q9NW12	Silent	SNP	ENST00000326639.6	37	c.1680G>A	CCDS3738.1																																																																																				0.393	LARP1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257173.2	NM_018078		6	102	0	0	0	1	0	6	102				
ARHGEF2	9181	broad.mit.edu	37	1	155931573	155931573	+	Missense_Mutation	SNP	C	C	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr1:155931573C>T	ENST00000361247.4	-	11	1446	c.1347G>A	c.(1345-1347)atG>atA	p.M449I	ARHGEF2_ENST00000477754.2_Intron|ARHGEF2_ENST00000462460.2_Missense_Mutation_p.M494I|ARHGEF2_ENST00000313695.7_Missense_Mutation_p.M421I|ARHGEF2_ENST00000368316.1_Missense_Mutation_p.M421I|ARHGEF2_ENST00000313667.4_Missense_Mutation_p.M448I|ARHGEF2_ENST00000368315.4_Missense_Mutation_p.M450I	NM_001162383.1|NM_001162384.1	NP_001155855.1|NP_001155856.1	Q92974	ARHG2_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 2	449					actin filament organization (GO:0007015)|apoptotic signaling pathway (GO:0097190)|cell morphogenesis (GO:0000902)|cellular hyperosmotic response (GO:0071474)|cellular response to muramyl dipeptide (GO:0071225)|cellular response to tumor necrosis factor (GO:0071356)|establishment of mitotic spindle orientation (GO:0000132)|innate immune response (GO:0045087)|intracellular protein transport (GO:0006886)|mitotic nuclear division (GO:0007067)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of intrinsic apoptotic signaling pathway in response to osmotic stress (GO:1902219)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of necroptotic process (GO:0060546)|negative regulation of neurogenesis (GO:0050768)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cell proliferation (GO:0042127)|regulation of Rho protein signal transduction (GO:0035023)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)|vesicle (GO:0031982)	microtubule binding (GO:0008017)|Rac GTPase binding (GO:0048365)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho GTPase binding (GO:0017048)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2)	40	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					CCCGAGGGTCCATGCGGTTGT	0.597																																					Melanoma(178;35 2768 6610 28839)	ENST00000368316.1																			0				breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2)	40						c.(1261-1263)atG>atA		Rho/Rac guanine nucleotide exchange factor (GEF) 2							69.0	69.0	69.0					1																	155931573		2203	4300	6503	SO:0001583	missense	9181				actin filament organization|apoptosis|cell division|cell morphogenesis|induction of apoptosis by extracellular signals|intracellular protein transport|mitosis|negative regulation of microtubule depolymerization|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|regulation of cell proliferation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|Golgi apparatus|microtubule|ruffle membrane|spindle|tight junction	microtubule binding|Rac GTPase binding|Rac guanyl-nucleotide exchange factor activity|zinc ion binding	g.chr1:155931573C>T	AB014551	CCDS1125.1, CCDS53375.1, CCDS53376.1	1q21-q22	2013-01-10	2009-06-12		ENSG00000116584	ENSG00000116584		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	682	protein-coding gene	gene with protein product		607560	"""rho/rac guanine nucleotide exchange factor (GEF) 2"""			9857026, 9734811	Standard	NM_004723		Approved	LFP40, GEF-H1, KIAA0651, P40	uc001fmt.2	Q92974	OTTHUMG00000017464	ENST00000361247.4:c.1347G>A	1.37:g.155931573C>T	ENSP00000354837:p.Met449Ile		Somatic				ARHGEF2_ENST00000368315.3_Missense_Mutation_p.M450I|ARHGEF2_ENST00000361247.4_Missense_Mutation_p.M449I|ARHGEF2_ENST00000313667.4_Missense_Mutation_p.M448I|ARHGEF2_ENST00000313695.7_Missense_Mutation_p.M421I	p.M421I			WXS	Illumina GAIIx	Phase_I	Q92974	ARHG2_HUMAN			15	1733	-	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		449			DH.		D3DVA6|O75142|Q15079|Q5VY92|Q8TDA3|Q8WUG4|Q9H023	Missense_Mutation	SNP	ENST00000361247.4	37	c.1263G>A	CCDS53376.1	.	.	.	.	.	.	.	.	.	.	C	5.175	0.217806	0.09810	.	.	ENSG00000116584	ENST00000313695;ENST00000361247;ENST00000368315;ENST00000368316;ENST00000313667	T;T;T;T;T	0.61392	0.11;0.11;0.11;0.11;0.11	4.95	4.03	0.46877	Dbl homology (DH) domain (1);	0.117439	0.39909	N	0.001225	T	0.21062	0.0507	L	0.29908	0.895	0.38980	D	0.958935	B;B;B	0.09022	0.002;0.0;0.0	B;B;B	0.12156	0.003;0.001;0.007	T	0.11446	-1.0587	10	0.12430	T	0.62	-31.5755	5.7526	0.18154	0.1944:0.7095:0.0:0.0961	.	493;449;448	D3DVA5;Q92974;Q92974-2	.;ARHG2_HUMAN;.	I	421;449;450;421;448	ENSP00000315325:M421I;ENSP00000354837:M449I;ENSP00000357298:M450I;ENSP00000357299:M421I;ENSP00000314787:M448I	ENSP00000314787:M448I	M	-	3	0	ARHGEF2	154198197	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.575000	0.36493	2.724000	0.93272	0.655000	0.94253	ATG		0.597	ARHGEF2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046204.2	NM_004723		25	59	0	0	0	1	0	25	59				
DTL	51514	broad.mit.edu	37	1	212273684	212273684	+	Missense_Mutation	SNP	C	C	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr1:212273684C>T	ENST00000366991.4	+	14	1666	c.1352C>T	c.(1351-1353)gCc>gTc	p.A451V	DTL_ENST00000475419.1_3'UTR|DTL_ENST00000542077.1_Missense_Mutation_p.A409V|RN7SKP98_ENST00000517070.1_RNA	NM_016448.2	NP_057532.2	Q9NZJ0	DTL_HUMAN	denticleless E3 ubiquitin protein ligase homolog (Drosophila)	451					cellular response to DNA damage stimulus (GO:0006974)|DNA replication (GO:0006260)|G2 DNA damage checkpoint (GO:0031572)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|regulation of cell cycle (GO:0051726)|response to UV (GO:0009411)|translesion synthesis (GO:0019985)|ubiquitin-dependent protein catabolic process (GO:0006511)	centrosome (GO:0005813)|chromosome (GO:0005694)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(81;0.00796)|all cancers(67;0.0385)|Epithelial(68;0.102)		GCAGCTTGTGCCCCAAGCTGT	0.522																																						ENST00000366991.4																			0				breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						c.(1351-1353)gCc>gTc		denticleless E3 ubiquitin protein ligase homolog (Drosophila)							108.0	110.0	109.0					1																	212273684		2203	4300	6503	SO:0001583	missense	51514				DNA replication|G2/M transition DNA damage checkpoint|protein monoubiquitination|protein polyubiquitination|response to UV|translesion synthesis|ubiquitin-dependent protein catabolic process	centrosome|Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|nuclear membrane	protein binding	g.chr1:212273684C>T	AF195765	CCDS1502.1, CCDS65778.1	1q32	2013-01-10	2012-02-23		ENSG00000143476	ENSG00000143476		"""DDB1 and CUL4 associated factors"", ""WD repeat domain containing"""	30288	protein-coding gene	gene with protein product	"""RA regulated nuclear matrix associated protein"", ""DDB1 and CUL4 associated factor 2"""	610617	"""denticleless homolog (Drosophila)"""			11278750	Standard	NM_001286229		Approved	RAMP, L2DTL, DCAF2	uc009xdc.3	Q9NZJ0	OTTHUMG00000037133	ENST00000366991.4:c.1352C>T	1.37:g.212273684C>T	ENSP00000355958:p.Ala451Val		Somatic				DTL_ENST00000542077.1_Missense_Mutation_p.A409V|DTL_ENST00000475419.1_3'UTR	p.A451V	NM_016448.2	NP_057532.2	WXS	Illumina GAIIx	Phase_I	Q9NZJ0	DTL_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00796)|all cancers(67;0.0385)|Epithelial(68;0.102)	14	1666	+			451					A8K8H8|D3DT98|Q5VT77|Q96SN0|Q9NW03|Q9NW34|Q9NWM5	Missense_Mutation	SNP	ENST00000366991.4	37	c.1352C>T	CCDS1502.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.791251	0.90367	.	.	ENSG00000143476	ENST00000366991;ENST00000542077;ENST00000420235	T;T	0.73469	-0.68;-0.75	5.54	5.54	0.83059	.	0.162937	0.53938	D	0.000049	T	0.81356	0.4805	L	0.52573	1.65	0.52099	D	0.999948	D;D;D	0.56968	0.978;0.963;0.963	P;P;P	0.56751	0.805;0.664;0.643	T	0.81686	-0.0820	10	0.59425	D	0.04	-30.2576	19.8379	0.96666	0.0:1.0:0.0:0.0	.	409;451;409	F5GZ90;Q9NZJ0;B4E0E6	.;DTL_HUMAN;.	V	451;409;130	ENSP00000355958:A451V;ENSP00000443870:A409V	ENSP00000355958:A451V	A	+	2	0	DTL	210340307	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	3.426000	0.52778	2.765000	0.95021	0.655000	0.94253	GCC		0.522	DTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090182.1	NM_016448		6	301	0	0	0	1	0	6	301				
ZNF24	7572	broad.mit.edu	37	18	32917436	32917436	+	Silent	SNP	G	G	A			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr18:32917436G>A	ENST00000261332.6	-	4	1046	c.867C>T	c.(865-867)agC>agT	p.S289S	ZNF24_ENST00000399061.3_Silent_p.S289S|ZNF24_ENST00000589881.1_3'UTR	NM_006965.2	NP_008896.2	P17028	ZNF24_HUMAN	zinc finger protein 24	289	Necessary and sufficient for nuclear localization.				myelination (GO:0042552)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	15						TGGAACTTCGGCTGAATGCTT	0.453																																					Colon(42;769 913 8916 19469 46270)	ENST00000261332.6																			0				endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	15						c.(865-867)agC>agT		zinc finger protein 24							116.0	118.0	117.0					18																	32917436		2203	4300	6503	SO:0001819	synonymous_variant	7572				myelination|negative regulation of transcription, DNA-dependent|viral reproduction	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:32917436G>A	AF016052	CCDS11912.1	18q12	2013-01-09	2006-05-10		ENSG00000172466	ENSG00000172466		"""-"", ""Zinc fingers, C2H2-type"""	13032	protein-coding gene	gene with protein product		194534	"""zinc finger protein 24 (KOX 17)"""	ZNF191			Standard	NM_006965		Approved	ZSCAN3, Zfp191, KOX17	uc002kys.2	P17028	OTTHUMG00000132565	ENST00000261332.6:c.867C>T	18.37:g.32917436G>A			Somatic				ZNF24_ENST00000589881.1_3'UTR|ZNF24_ENST00000399061.3_Silent_p.S289S	p.S289S	NM_006965.2	NP_008896.2	WXS	Illumina GAIIx	Phase_I	P17028	ZNF24_HUMAN			4	1046	-			289					O14754|Q53YE4|Q6ICR5|Q8IZN4	Silent	SNP	ENST00000261332.6	37	c.867C>T	CCDS11912.1																																																																																				0.453	ZNF24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255769.1	NM_006965		4	308	0	0	0	1	0	4	308				
FER1L6	654463	broad.mit.edu	37	8	125082753	125082753	+	Missense_Mutation	SNP	T	T	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr8:125082753T>C	ENST00000522917.1	+	30	4086	c.3880T>C	c.(3880-3882)Tgg>Cgg	p.W1294R	FER1L6_ENST00000399018.1_Missense_Mutation_p.W1294R|FER1L6-AS2_ENST00000520031.1_RNA	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6	1294						integral component of membrane (GO:0016021)				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			TTTTGAAGACTGGGTGAAAAC	0.418																																						ENST00000522917.1																			0				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118						c.(3880-3882)Tgg>Cgg		fer-1-like 6 (C. elegans)							179.0	168.0	171.0					8																	125082753		1844	4082	5926	SO:0001583	missense	654463					integral to membrane		g.chr8:125082753T>C	AB196633	CCDS43767.1	8q24.13	2014-06-27	2014-06-27		ENSG00000214814	ENSG00000214814			28065	protein-coding gene	gene with protein product			"""fer-1-like 6 (C. elegans)"""				Standard	NM_001039112		Approved	C8ORFK23	uc003yqw.3	Q2WGJ9	OTTHUMG00000164998	ENST00000522917.1:c.3880T>C	8.37:g.125082753T>C	ENSP00000428280:p.Trp1294Arg		Somatic				FER1L6-AS2_ENST00000520031.1_RNA|FER1L6_ENST00000399018.1_Missense_Mutation_p.W1294R	p.W1294R	NM_001039112.2	NP_001034201.2	WXS	Illumina GAIIx	Phase_I	Q2WGJ9	FR1L6_HUMAN	STAD - Stomach adenocarcinoma(47;0.00186)		30	4086	+	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		1294						Missense_Mutation	SNP	ENST00000522917.1	37	c.3880T>C	CCDS43767.1	.	.	.	.	.	.	.	.	.	.	T	24.1	4.489665	0.84962	.	.	ENSG00000214814	ENST00000522917;ENST00000399018	D;D	0.82711	-1.64;-1.64	5.96	5.96	0.96718	.	0.000000	0.85682	U	0.000000	D	0.91250	0.7242	M	0.80183	2.485	0.80722	D	1	D	0.89917	1.0	D	0.73708	0.981	D	0.92282	0.5834	10	0.87932	D	0	-6.5392	16.1099	0.81255	0.0:0.0:0.0:1.0	.	1294	Q2WGJ9	FR1L6_HUMAN	R	1294	ENSP00000428280:W1294R;ENSP00000381982:W1294R	ENSP00000381982:W1294R	W	+	1	0	FER1L6	125151934	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.965000	0.87945	2.285000	0.76669	0.533000	0.62120	TGG		0.418	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381400.1	NM_001039112		7	201	0	0	0	1	0	7	201				
MAPRE3	22924	broad.mit.edu	37	2	27245090	27245090	+	Missense_Mutation	SNP	G	G	A			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr2:27245090G>A	ENST00000233121.2	+	2	202	c.4G>A	c.(4-6)Gcc>Acc	p.A2T	MAPRE3_ENST00000405074.3_Missense_Mutation_p.A2T|MAPRE3_ENST00000491354.1_3'UTR|MAPRE3_ENST00000402218.1_Missense_Mutation_p.A2T			Q9UPY8	MARE3_HUMAN	microtubule-associated protein, RP/EB family, member 3	2				A -> P (in Ref. 7; CAA72060). {ECO:0000305}.	mitotic nuclear division (GO:0007067)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of microtubule plus-end binding (GO:1903033)|positive regulation of transcription, DNA-templated (GO:0045893)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|midbody (GO:0030496)|perinuclear region of cytoplasm (GO:0048471)	microtubule binding (GO:0008017)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|upper_aerodigestive_tract(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTGGGGTATGGCCGTCAATGT	0.507																																						ENST00000233121.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|upper_aerodigestive_tract(1)	13						c.(4-6)Gcc>Acc		microtubule-associated protein, RP/EB family, member 3							188.0	178.0	182.0					2																	27245090		2203	4300	6503	SO:0001583	missense	22924				cell division|mitosis|positive regulation of transcription, DNA-dependent	cytoplasm|cytoplasmic microtubule|microtubule|midbody|perinuclear region of cytoplasm	microtubule binding|protein binding|small GTPase regulator activity	g.chr2:27245090G>A	Y11174	CCDS1731.1	2p23.3-p23.1	2008-06-04			ENSG00000084764	ENSG00000084764			6892	protein-coding gene	gene with protein product		605788				9233623	Standard	NM_012326		Approved	RP3, EB3	uc002rhw.3	Q9UPY8	OTTHUMG00000097067	ENST00000233121.2:c.4G>A	2.37:g.27245090G>A	ENSP00000233121:p.Ala2Thr		Somatic				MAPRE3_ENST00000402218.1_Missense_Mutation_p.A2T|MAPRE3_ENST00000491354.1_3'UTR|MAPRE3_ENST00000405074.3_Missense_Mutation_p.A2T	p.A2T			WXS	Illumina GAIIx	Phase_I	Q9UPY8	MARE3_HUMAN			2	202	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		2	A -> P (in Ref. 7; CAA72060).				B7WPK5|O00265|Q6FHB0|Q6FI15|Q9BZP7|Q9BZP8	Missense_Mutation	SNP	ENST00000233121.2	37	c.4G>A	CCDS1731.1	.	.	.	.	.	.	.	.	.	.	G	37	6.082752	0.97267	.	.	ENSG00000084764	ENST00000233121;ENST00000405074;ENST00000458529;ENST00000402218	T;T;T;T	0.47177	0.85;0.85;0.85;0.85	5.77	5.77	0.91146	Calponin homology domain (1);	0.000000	0.85682	D	0.000000	T	0.74581	0.3735	M	0.91196	3.185	0.80722	D	1	D;D;D	0.62365	0.974;0.976;0.991	P;P;P	0.61940	0.742;0.896;0.866	T	0.79072	-0.1953	10	0.62326	D	0.03	-15.6039	19.1176	0.93348	0.0:0.0:1.0:0.0	.	2;2;2	B7Z867;Q9UPY8-2;Q9UPY8	.;.;MARE3_HUMAN	T	2	ENSP00000233121:A2T;ENSP00000383915:A2T;ENSP00000391705:A2T;ENSP00000385715:A2T	ENSP00000233121:A2T	A	+	1	0	MAPRE3	27098594	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.758000	0.98927	2.884000	0.98904	0.655000	0.94253	GCC		0.507	MAPRE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214183.1	NM_012326		18	609	0	0	0	1	0	18	609				
ANKRD28	23243	broad.mit.edu	37	3	15726732	15726732	+	Splice_Site	SNP	C	C	A			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr3:15726732C>A	ENST00000399451.2	-	21	2667		c.e21+1		ANKRD28_ENST00000383777.1_Splice_Site|ANKRD28_ENST00000497037.1_Splice_Site	NM_001195098.1|NM_001195099.1|NM_015199.3	NP_001182027.1|NP_001182028.1|NP_056014.2	O15084	ANR28_HUMAN	ankyrin repeat domain 28							nucleus (GO:0005634)				breast(2)|endometrium(1)|large_intestine(2)|prostate(1)	6						GTATACTTAACCATTGTAGCA	0.373																																						ENST00000399451.2																			0				breast(2)|endometrium(1)|large_intestine(2)|prostate(1)	6						c.e21+1		ankyrin repeat domain 28							149.0	137.0	141.0					3																	15726732		1960	4156	6116	SO:0001630	splice_region_variant	23243					nucleoplasm	protein binding	g.chr3:15726732C>A	AY367056	CCDS46769.1, CCDS74908.1	3p25.1	2013-01-10			ENSG00000206560	ENSG00000206560		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"", ""Ankyrin repeat domain containing"""	29024	protein-coding gene	gene with protein product	"""phosphatase interactor targeting K protein"", ""protein phosphatase 6 ankyrin repeat subunit A"", ""protein phosphatase 1, regulatory subunit 65"""	611122				9205841	Standard	NM_015199		Approved	KIAA0379, PITK, PP6-ARS-A, PPP1R65	uc003caj.1	O15084	OTTHUMG00000155379	ENST00000399451.2:c.2299+1G>T	3.37:g.15726732C>A			Somatic				ANKRD28_ENST00000383777.1_Splice_Site|ANKRD28_ENST00000497037.1_Splice_Site		NM_001195098.1|NM_001195099.1|NM_015199.3	NP_001182027.1|NP_001182028.1|NP_056014.2	WXS	Illumina GAIIx	Phase_I	O15084	ANR28_HUMAN			21	2667	-								B4DES5|Q1WWL4|Q29RW6|Q3B857|Q6ULS0|Q6ZT57	Splice_Site	SNP	ENST00000399451.2	37		CCDS46769.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.731918	0.89390	.	.	ENSG00000206560	ENST00000399451;ENST00000383777;ENST00000412318	.	.	.	5.77	5.77	0.91146	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.0007	0.97408	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ANKRD28	15701736	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.818000	0.86416	2.726000	0.93360	0.650000	0.86243	.		0.373	ANKRD28-003	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339758.1	NM_015199	Intron	31	170	1	0	2.81731e-10	1	3.1832e-10	31	170				
PLSCR4	57088	broad.mit.edu	37	3	145918825	145918825	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr3:145918825C>A	ENST00000354952.2	-	5	634	c.394G>T	c.(394-396)Gaa>Taa	p.E132*	PLSCR4_ENST00000433593.2_Intron|PLSCR4_ENST00000383083.2_Intron|PLSCR4_ENST00000446574.2_Nonsense_Mutation_p.E132*|PLSCR4_ENST00000493382.1_Nonsense_Mutation_p.E132*	NM_020353.2	NP_065086.2	Q9NRQ2	PLS4_HUMAN	phospholipid scramblase 4	132					cellular response to lipopolysaccharide (GO:0071222)|phospholipid scrambling (GO:0017121)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|CD4 receptor binding (GO:0042609)|enzyme binding (GO:0019899)|phospholipid scramblase activity (GO:0017128)			kidney(1)|large_intestine(6)|lung(9)|urinary_tract(1)	17						TACATACTTTCCAGAGGCTCA	0.318																																						ENST00000354952.2																			0				kidney(1)|large_intestine(6)|lung(9)|urinary_tract(1)	17						c.(394-396)Gaa>Taa		phospholipid scramblase 4							76.0	80.0	78.0					3																	145918825		2203	4299	6502	SO:0001587	stop_gained	57088				blood coagulation|phospholipid scrambling	integral to membrane	calcium ion binding|phospholipid scramblase activity|SH3 domain binding	g.chr3:145918825C>A	AF199023	CCDS3133.1, CCDS54651.1	3q24	2008-07-18			ENSG00000114698	ENSG00000114698			16497	protein-coding gene	gene with protein product		607612				10930526	Standard	NM_020353		Approved		uc003evt.4	Q9NRQ2	OTTHUMG00000159415	ENST00000354952.2:c.394G>T	3.37:g.145918825C>A	ENSP00000347038:p.Glu132*		Somatic				PLSCR4_ENST00000446574.2_Nonsense_Mutation_p.E132*|PLSCR4_ENST00000433593.2_Intron|PLSCR4_ENST00000493382.1_Nonsense_Mutation_p.E132*|PLSCR4_ENST00000383083.2_Intron	p.E132*	NM_020353.2	NP_065086.2	WXS	Illumina GAIIx	Phase_I	Q9NRQ2	PLS4_HUMAN			5	634	-			132					A8K2E9|Q2TTR3|Q658L3|Q6ZR73|Q7Z505	Nonsense_Mutation	SNP	ENST00000354952.2	37	c.394G>T	CCDS3133.1	.	.	.	.	.	.	.	.	.	.	C	37	6.498589	0.97616	.	.	ENSG00000114698	ENST00000354952;ENST00000446574;ENST00000493382;ENST00000460350;ENST00000476202;ENST00000481701	.	.	.	5.25	5.25	0.73442	.	0.000000	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	15.8919	0.79305	0.0:1.0:0.0:0.0	.	.	.	.	X	132	.	ENSP00000347038:E132X	E	-	1	0	PLSCR4	147401515	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	2.540000	0.45727	2.730000	0.93505	0.655000	0.94253	GAA		0.318	PLSCR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355172.1	NM_020353		4	111	1	0	0.00116845	1	0.00123969	4	111				
PKP2	5318	broad.mit.edu	37	12	32996139	32996139	+	Missense_Mutation	SNP	A	A	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr12:32996139A>T	ENST00000070846.6	-	6	1511	c.1487T>A	c.(1486-1488)gTt>gAt	p.V496D	PKP2_ENST00000340811.4_Intron	NM_004572.3	NP_004563.2	Q99959	PKP2_HUMAN	plakophilin 2	496					adherens junction maintenance (GO:0034334)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential (GO:0086001)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cell-cell signaling involved in cardiac conduction (GO:0086019)|desmosome assembly (GO:0002159)|gap junction assembly (GO:0016264)|heart development (GO:0007507)|intermediate filament bundle assembly (GO:0045110)|lipid homeostasis (GO:0055088)|maintenance of organ identity (GO:0048496)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|positive regulation of sodium ion transport (GO:0010765)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of tight junction assembly (GO:2000810)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	adherens junction (GO:0005912)|cell junction (GO:0030054)|cell-cell junction (GO:0005911)|desmosome (GO:0030057)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intermediate filament binding (GO:0019215)|ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|protein kinase C binding (GO:0005080)|sodium channel regulator activity (GO:0017080)			NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					ctggtctcgaactcctgacct	0.557																																						ENST00000070846.6																			0				NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50						c.(1486-1488)gTt>gAt		plakophilin 2							22.0	22.0	22.0					12																	32996139		2200	4293	6493	SO:0001583	missense	5318				cell-cell adhesion	desmosome|integral to membrane|nucleus	binding	g.chr12:32996139A>T	X97675	CCDS8731.1, CCDS31771.1	12p11	2014-09-17				ENSG00000057294		"""Armadillo repeat containing"""	9024	protein-coding gene	gene with protein product		602861				8922383	Standard	NM_001005242		Approved		uc001rlj.4	Q99959	OTTHUMG00000169500	ENST00000070846.6:c.1487T>A	12.37:g.32996139A>T	ENSP00000070846:p.Val496Asp		Somatic				PKP2_ENST00000340811.4_Intron	p.V496D	NM_004572.3	NP_004563.2	WXS	Illumina GAIIx	Phase_I	Q99959	PKP2_HUMAN			6	1511	-	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)		496					A0AV37|B8QFA1|B8QGS6|B8QGS7|D3DUW9|Q4VC01|Q99960	Missense_Mutation	SNP	ENST00000070846.6	37	c.1487T>A	CCDS8731.1	.	.	.	.	.	.	.	.	.	.	A	0.037	-1.302962	0.01353	.	.	ENSG00000057294	ENST00000070846;ENST00000537278	T	0.39997	1.05	0.51	0.51	0.16983	Armadillo-type fold (1);	.	.	.	.	T	0.23133	0.0559	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.18903	-1.0322	8	0.44086	T	0.13	.	.	.	.	.	496	Q99959	PKP2_HUMAN	D	496	ENSP00000070846:V496D	ENSP00000070846:V496D	V	-	2	0	PKP2	32887406	0.004000	0.15560	0.004000	0.12327	0.011000	0.07611	0.543000	0.23237	0.436000	0.26393	0.260000	0.18958	GTT		0.557	PKP2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404449.1	NM_004572		4	251	0	0	0	1	0	4	251				
TIE1	7075	broad.mit.edu	37	1	43783270	43783270	+	Missense_Mutation	SNP	G	G	A			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr1:43783270G>A	ENST00000372476.3	+	16	2735	c.2656G>A	c.(2656-2658)Gga>Aga	p.G886R	TIE1_ENST00000473014.1_3'UTR|TIE1_ENST00000433781.2_Missense_Mutation_p.G531R	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	886	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|in utero embryonic development (GO:0001701)|mesoderm development (GO:0007498)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|peptidyl-tyrosine phosphorylation (GO:0018108)|plasma membrane fusion (GO:0045026)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TGACTTTGCGGGAGAACTGGA	0.502																																						ENST00000372476.3																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70						c.(2656-2658)Gga>Aga		tyrosine kinase with immunoglobulin-like and EGF-like domains 1							164.0	179.0	174.0					1																	43783270		2203	4300	6503	SO:0001583	missense	7075				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr1:43783270G>A	BC038239	CCDS482.1	1p34-p33	2013-02-11	2004-12-13	2004-12-14	ENSG00000066056	ENSG00000066056	2.7.10.1	"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	11809	protein-coding gene	gene with protein product		600222	"""tyrosine kinase with immunoglobulin and epidermal growth factor homology domains 1"""	TIE		1312667	Standard	NM_005424		Approved	JTK14	uc001ciu.3	P35590	OTTHUMG00000007282	ENST00000372476.3:c.2656G>A	1.37:g.43783270G>A	ENSP00000361554:p.Gly886Arg		Somatic				TIE1_ENST00000473014.1_3'UTR|TIE1_ENST00000433781.2_Missense_Mutation_p.G531R	p.G886R	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	WXS	Illumina GAIIx	Phase_I	P35590	TIE1_HUMAN			16	2735	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	886			Protein kinase.		B5A949|B5A950	Missense_Mutation	SNP	ENST00000372476.3	37	c.2656G>A	CCDS482.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.910246	0.92107	.	.	ENSG00000066056	ENST00000372476;ENST00000372475;ENST00000536913;ENST00000433781	D;D	0.81659	-1.52;-1.52	5.66	5.66	0.87406	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.39475	N	0.001342	T	0.73999	0.3659	N	0.00648	-1.295	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.70935	0.971;0.96;0.971	D	0.86228	0.1635	10	0.72032	D	0.01	.	19.7383	0.96217	0.0:0.0:1.0:0.0	.	841;531;886	B4DTW8;B4DKW0;P35590	.;.;TIE1_HUMAN	R	886;289;169;531	ENSP00000361554:G886R;ENSP00000411728:G531R	ENSP00000361553:G289R	G	+	1	0	TIE1	43555857	1.000000	0.71417	0.991000	0.47740	0.998000	0.95712	9.869000	0.99810	2.675000	0.91044	0.655000	0.94253	GGA		0.502	TIE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019011.1	NM_005424		3	192	0	0	0	1	0	3	192				
C17orf64	124773	broad.mit.edu	37	17	58511256	58511256	+	IGR	SNP	C	C	A	rs577271750		TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr17:58511256C>A	ENST00000269127.4	+	0	950				RPL12P38_ENST00000588627.1_RNA	NM_181707.2	NP_859058.2	Q86WR6	CQ064_HUMAN	chromosome 17 open reading frame 64											breast(2)|large_intestine(1)|lung(3)	6	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;5.81e-13)|all cancers(12;2.17e-11)|Colorectal(3;0.01)			GCAAGGTTGACGATCTCATCA	0.473																																						ENST00000588627.1																			0																																																	SO:0001628	intergenic_variant	645688							g.chr17:58511256C>A	BC048806	CCDS32698.2	17q23.2	2005-12-16			ENSG00000141371	ENSG00000141371			26990	protein-coding gene	gene with protein product						12477932	Standard	NM_181707		Approved		uc002iyq.3	Q86WR6	OTTHUMG00000157171		17.37:g.58511256C>A			Somatic								WXS	Illumina GAIIx	Phase_I					0	2101	-								Q8IY87	RNA	SNP	ENST00000269127.4	37		CCDS32698.2																																																																																				0.473	C17orf64-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000347743.1	NM_181707		3	60	1	0	1	1	1	3	60				
LOC220729	220729	broad.mit.edu	37	3	197348674	197348674	+	RNA	SNP	A	A	G	rs376114863		TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr3:197348674A>G	ENST00000418868.1	-	0	585					NR_003266.2																						GGCTCTGTCCACCAAATGCAC	0.478																																						ENST00000418868.1																			0																																																			220729							g.chr3:197348674A>G																													3.37:g.197348674A>G			Somatic						NR_003266.2		WXS	Illumina GAIIx	Phase_I					0	585	-									RNA	SNP	ENST00000418868.1	37																																																																																						0.478	AC024560.3-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000340283.1			4	215	0	0	0	1	0	4	215				
FAT3	120114	broad.mit.edu	37	11	92533197	92533197	+	Missense_Mutation	SNP	G	G	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr11:92533197G>T	ENST00000298047.6	+	9	7035	c.7018G>T	c.(7018-7020)Gat>Tat	p.D2340Y	FAT3_ENST00000525166.1_Missense_Mutation_p.D2190Y|FAT3_ENST00000409404.2_Missense_Mutation_p.D2340Y			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2340	Cadherin 21. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TTTTCACATAGATAGCTCAAG	0.383										TCGA Ovarian(4;0.039)																												ENST00000298047.6																			0				NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85						c.(7018-7020)Gat>Tat		FAT atypical cadherin 3							96.0	89.0	91.0					11																	92533197		1939	4134	6073	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92533197G>T	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.7018G>T	11.37:g.92533197G>T	ENSP00000298047:p.Asp2340Tyr	TCGA Ovarian(4;0.039)	Somatic				FAT3_ENST00000525166.1_Missense_Mutation_p.D2190Y|FAT3_ENST00000409404.2_Missense_Mutation_p.D2340Y	p.D2340Y			WXS	Illumina GAIIx	Phase_I	Q8TDW7	FAT3_HUMAN			9	7035	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	2340			Cadherin 21.		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.7018G>T		.	.	.	.	.	.	.	.	.	.	G	18.05	3.536236	0.64972	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.63744	-0.06;-0.06;-0.06	5.95	5.95	0.96441	.	.	.	.	.	D	0.89178	0.6641	H	0.99104	4.43	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92995	0.6418	9	0.87932	D	0	.	20.3931	0.98965	0.0:0.0:1.0:0.0	.	2340	Q8TDW7-3	.	Y	2340;2340;2190	ENSP00000298047:D2340Y;ENSP00000387040:D2340Y;ENSP00000432586:D2190Y	ENSP00000298047:D2340Y	D	+	1	0	FAT3	92172845	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.787000	0.99055	2.824000	0.97209	0.655000	0.94253	GAT		0.383	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		8	110	1	0	2.17888e-05	1	2.41481e-05	8	110				
ITGA5	3678	broad.mit.edu	37	12	54797447	54797447	+	Missense_Mutation	SNP	C	C	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr12:54797447C>T	ENST00000293379.4	-	17	1999	c.1738G>A	c.(1738-1740)Gct>Act	p.A580T	RP11-753H16.5_ENST00000552785.1_RNA|RP11-753H16.3_ENST00000550474.1_RNA	NM_002205.2	NP_002196.2	P08648	ITA5_HUMAN	integrin, alpha 5 (fibronectin receptor, alpha polypeptide)	580					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-substrate adhesion (GO:0031589)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|memory (GO:0007613)|negative regulation of anoikis (GO:2000811)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|viral process (GO:0016032)|wound healing, spreading of epidermal cells (GO:0035313)	alphav-beta3 integrin-vitronectin complex (GO:0071062)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	metal ion binding (GO:0046872)|platelet-derived growth factor receptor binding (GO:0005161)|vascular endothelial growth factor receptor 2 binding (GO:0043184)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	34						TCCTCTCGAGCCCCATTCTGG	0.627																																						ENST00000293379.4																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	34						c.(1738-1740)Gct>Act		integrin, alpha 5 (fibronectin receptor, alpha polypeptide)							86.0	83.0	84.0					12																	54797447		2203	4300	6503	SO:0001583	missense	3678				angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells	alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle	platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding	g.chr12:54797447C>T		CCDS8880.1	12q11-q13	2010-03-23				ENSG00000161638		"""CD molecules"", ""Integrins"""	6141	protein-coding gene	gene with protein product		135620		FNRA		2454952	Standard	NM_002205		Approved	CD49e	uc001sga.3	P08648	OTTHUMG00000169841	ENST00000293379.4:c.1738G>A	12.37:g.54797447C>T	ENSP00000293379:p.Ala580Thr		Somatic				RP11-753H16.3_ENST00000550474.1_RNA|RP11-753H16.5_ENST00000552785.1_RNA	p.A580T	NM_002205.2	NP_002196.2	WXS	Illumina GAIIx	Phase_I	P08648	ITA5_HUMAN			17	1999	-			580					Q96HA5	Missense_Mutation	SNP	ENST00000293379.4	37	c.1738G>A	CCDS8880.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.687621	0.88639	.	.	ENSG00000161638	ENST00000293379	T	0.46063	0.88	5.22	4.32	0.51571	Integrin alpha-2 (1);	0.190561	0.45126	D	0.000384	T	0.43500	0.1250	L	0.29908	0.895	0.37377	D	0.911877	D	0.55172	0.97	P	0.53401	0.725	T	0.51116	-0.8746	10	0.49607	T	0.09	.	13.8101	0.63256	0.0:0.8451:0.1549:0.0	.	580	P08648	ITA5_HUMAN	T	580	ENSP00000293379:A580T	ENSP00000293379:A580T	A	-	1	0	ITGA5	53083714	1.000000	0.71417	0.991000	0.47740	0.936000	0.57629	5.192000	0.65115	1.323000	0.45263	0.561000	0.74099	GCT		0.627	ITGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406174.1			9	90	0	0	0	1	0	9	90				
RNF113B	140432	broad.mit.edu	37	13	98828727	98828727	+	Missense_Mutation	SNP	C	C	T	rs199776079	byFrequency	TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr13:98828727C>T	ENST00000267291.6	-	1	792	c.764G>A	c.(763-765)aGg>aAg	p.R255K	FARP1_ENST00000319562.6_Intron|FARP1_ENST00000376586.2_Intron|FARP1_ENST00000595437.1_Intron|FARP1_ENST00000376581.5_Intron	NM_178861.4	NP_849192.1	Q8IZP6	R113B_HUMAN	ring finger protein 113B	255							zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	18	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.13)			TATGAAACACCTGAATGGTAT	0.557																																						ENST00000267291.6																			0				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						c.(763-765)aGg>aAg		ring finger protein 113B		C	,,LYS/ARG	0,4406		0,0,2203	128.0	125.0	126.0		,,764	-1.8	0.9	13		126	3,8597	3.0+/-9.4	0,3,4297	yes	intron,intron,missense	FARP1,RNF113B	NM_001001715.2,NM_005766.2,NM_178861.4	,,26	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	,,benign	,,255/323	98828727	3,13003	2203	4300	6503	SO:0001583	missense	140432						nucleic acid binding|zinc ion binding	g.chr13:98828727C>T	AF539427	CCDS9486.1	13q32.2	2006-08-22	2005-03-22	2005-03-22	ENSG00000139797	ENSG00000139797		"""RING-type (C3HC4) zinc fingers"""	17267	protein-coding gene	gene with protein product			"""zinc finger protein 183-like 1"""	ZNF183L1			Standard	NM_178861		Approved	RNF161	uc001vnk.3	Q8IZP6	OTTHUMG00000017245	ENST00000267291.6:c.764G>A	13.37:g.98828727C>T	ENSP00000267291:p.Arg255Lys		Somatic				FARP1_ENST00000595437.1_Intron|FARP1_ENST00000376581.5_Intron|FARP1_ENST00000376586.2_Intron|FARP1_ENST00000319562.6_Intron	p.R255K	NM_178861.4	NP_849192.1	WXS	Illumina GAIIx	Phase_I	Q8IZP6	R113B_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.13)		1	792	-	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		255					Q8WWF9|Q96QY9	Missense_Mutation	SNP	ENST00000267291.6	37	c.764G>A	CCDS9486.1	.	.	.	.	.	.	.	.	.	.	C	0.029	-1.347194	0.01266	0.0	3.49E-4	ENSG00000139797	ENST00000267291	T	0.77750	-1.12	1.57	-1.78	0.07957	Zinc finger, RING/FYVE/PHD-type (1);	0.058972	0.64402	N	0.000003	T	0.33294	0.0858	N	0.00493	-1.44	0.23132	N	0.99824	B	0.02656	0.0	B	0.04013	0.001	T	0.49399	-0.8944	10	0.02654	T	1	.	5.2034	0.15277	0.0:0.3704:0.0:0.6296	.	255	Q8IZP6	R113B_HUMAN	K	255	ENSP00000267291:R255K	ENSP00000267291:R255K	R	-	2	0	RNF113B	97626728	1.000000	0.71417	0.949000	0.38748	0.483000	0.33249	3.632000	0.54287	-0.300000	0.08895	-0.423000	0.05987	AGG		0.557	RNF113B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045536.3	NM_178861		3	111	0	0	0	1	0	3	111				
CYP11A1	1583	broad.mit.edu	37	15	74627331	74627331	+	IGR	SNP	C	C	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr15:74627331C>T	ENST00000268053.6	-	0	1934				CCDC33_ENST00000321288.5_Nonsense_Mutation_p.R918*|CCDC33_ENST00000398814.3_Nonsense_Mutation_p.R681*|CCDC33_ENST00000268082.4_Nonsense_Mutation_p.R308*|CCDC33_ENST00000558821.1_Nonsense_Mutation_p.R274*	NM_000781.2	NP_000772.2	P05108	CP11A_HUMAN	cytochrome P450, family 11, subfamily A, polypeptide 1						biphenyl metabolic process (GO:0018879)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to antibiotic (GO:0071236)|cellular response to cadmium ion (GO:0071276)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to peptide hormone stimulus (GO:0071375)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to tumor necrosis factor (GO:0071356)|cerebellum development (GO:0021549)|cholesterol metabolic process (GO:0008203)|dibenzo-p-dioxin metabolic process (GO:0018894)|estrogen biosynthetic process (GO:0006703)|fractalkine metabolic process (GO:0050756)|granulosa cell differentiation (GO:0060014)|hippocampus development (GO:0021766)|Leydig cell differentiation (GO:0033327)|maternal process involved in female pregnancy (GO:0060135)|mating behavior (GO:0007617)|phenol-containing compound metabolic process (GO:0018958)|phthalate metabolic process (GO:0018963)|progesterone biosynthetic process (GO:0006701)|response to alkaloid (GO:0043279)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to fungicide (GO:0060992)|response to gamma radiation (GO:0010332)|response to genistein (GO:0033595)|response to hydrogen peroxide (GO:0042542)|response to insecticide (GO:0017085)|response to L-ascorbic acid (GO:0033591)|response to salt stress (GO:0009651)|response to vitamin E (GO:0033197)|Schwann cell differentiation (GO:0014037)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|testosterone biosynthetic process (GO:0061370)|vitamin D metabolic process (GO:0042359)|xenobiotic metabolic process (GO:0006805)	mitochondrial crista (GO:0030061)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|perikaryon (GO:0043204)	cholesterol binding (GO:0015485)|cholesterol monooxygenase (side-chain-cleaving) activity (GO:0008386)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20					Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Clomifene(DB00882)|Clotrimazole(DB00257)|Dexamethasone(DB01234)|Digitoxin(DB01396)|Digoxin(DB00390)|Dinoprostone(DB00917)|Glutethimide(DB01437)|Ketoconazole(DB01026)|Omeprazole(DB00338)|Saquinavir(DB01232)|Terbinafine(DB00857)|Testosterone(DB00624)	GGACTCAGCTCGACGCTGGGG	0.577																																					Esophageal Squamous(87;818 1337 4093 9268 37314)	ENST00000321288.5																			0				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						c.(2752-2754)Cga>Tga		coiled-coil domain containing 33							86.0	91.0	89.0					15																	74627331		2037	4182	6219	SO:0001628	intergenic_variant	80125						protein binding	g.chr15:74627331C>T	AK056794	CCDS32291.1, CCDS45303.1	15q23-q24	2010-05-04	2003-01-14	2003-01-17	ENSG00000140459	ENSG00000140459	1.14.15.6	"""Cytochrome P450s"""	2590	protein-coding gene	gene with protein product	"""cholesterol monooxygenase (side-chain-cleaving)"""	118485	"""cytochrome P450, subfamily XIA (cholesterol side chain cleavage)"""	CYP11A			Standard	NM_000781		Approved	P450SCC	uc002axt.2	P05108	OTTHUMG00000150716		15.37:g.74627331C>T			Somatic				CCDC33_ENST00000558821.1_Nonsense_Mutation_p.R274*|CCDC33_ENST00000398814.3_Nonsense_Mutation_p.R681*|CCDC33_ENST00000268082.4_Nonsense_Mutation_p.R308*	p.R918*			WXS	Illumina GAIIx	Phase_I	Q8N5R6	CCD33_HUMAN			21	2752	+			884					A8K8D5|B3KPU8|G3XAD7|Q15081|Q16805|Q8N1A7	Nonsense_Mutation	SNP	ENST00000268053.6	37	c.2752C>T	CCDS32291.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.679913	0.88542	.	.	ENSG00000140481	ENST00000321288;ENST00000398814;ENST00000321374;ENST00000268082	.	.	.	4.92	3.96	0.45880	.	0.181706	0.35870	N	0.002939	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.4693	0.61273	0.1694:0.8306:0.0:0.0	.	.	.	.	X	918;681;274;308	.	ENSP00000268082:R308X	R	+	1	2	CCDC33	72414384	0.326000	0.24669	0.983000	0.44433	0.983000	0.72400	1.015000	0.29963	0.981000	0.38548	0.478000	0.44815	CGA		0.577	CYP11A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319737.1			5	209	0	0	0	1	0	5	209				
CD1A	909	broad.mit.edu	37	1	158226831	158226831	+	Missense_Mutation	SNP	G	G	A			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr1:158226831G>A	ENST00000289429.5	+	4	1393	c.860G>A	c.(859-861)gGc>gAc	p.G287D		NM_001763.2	NP_001754.2	P06126	CD1A_HUMAN	CD1a molecule	287	Ig-like.				antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)		p.G287V(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	32	all_hematologic(112;0.0378)				Antithymocyte globulin(DB00098)	AGTCTAGAGGGCCAGGACATC	0.592																																						ENST00000289429.5																			1	Substitution - Missense(1)	p.G287V(1)	lung(1)	NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	32						c.(859-861)gGc>gAc		CD1a molecule	Antithymocyte globulin(DB00098)						69.0	65.0	66.0					1																	158226831		2203	4300	6503	SO:0001583	missense	909				antigen processing and presentation|immune response	endosome membrane|integral to plasma membrane|MHC class I protein complex		g.chr1:158226831G>A	M28825	CCDS1174.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158477	ENSG00000158477		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1634	protein-coding gene	gene with protein product		188370	"""CD1A antigen, a polypeptide"", ""CD1a antigen"""	CD1		2447586, 2784820	Standard	NM_001763		Approved		uc001frt.3	P06126	OTTHUMG00000017512	ENST00000289429.5:c.860G>A	1.37:g.158226831G>A	ENSP00000289429:p.Gly287Asp		Somatic					p.G287D	NM_001763.2	NP_001754.2	WXS	Illumina GAIIx	Phase_I	P06126	CD1A_HUMAN			4	1393	+	all_hematologic(112;0.0378)		287			Ig-like.		D3DVD7|Q13962|Q5TDJ8|Q9UMM4|Q9Y5M5	Missense_Mutation	SNP	ENST00000289429.5	37	c.860G>A	CCDS1174.1	.	.	.	.	.	.	.	.	.	.	-	5.523	0.281466	0.10458	.	.	ENSG00000158477	ENST00000289429	T	0.13778	2.56	3.84	-5.15	0.02866	Immunoglobulin-like (1);MHC class I-like antigen recognition (1);Immunoglobulin C1-set (1);	0.402896	0.18428	N	0.141526	T	0.02418	0.0074	L	0.33339	1.005	0.09310	N	1	B	0.26195	0.144	B	0.30646	0.118	T	0.36866	-0.9730	10	0.32370	T	0.25	-5.1518	5.9912	0.19465	0.6011:0.0:0.2563:0.1425	.	287	P06126	CD1A_HUMAN	D	287	ENSP00000289429:G287D	ENSP00000289429:G287D	G	+	2	0	CD1A	156493455	0.000000	0.05858	0.002000	0.10522	0.148000	0.21650	-0.869000	0.04232	-1.406000	0.02045	0.491000	0.48974	GGC		0.592	CD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046349.2	NM_001763		7	155	0	0	0	1	0	7	155				
GADL1	339896	broad.mit.edu	37	3	30875766	30875766	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr3:30875766C>T	ENST00000282538.5	-	10	1061	c.911G>A	c.(910-912)tGg>tAg	p.W304*	GADL1_ENST00000454381.3_Nonsense_Mutation_p.W304*	NM_207359.2	NP_997242.2	Q6ZQY3	GADL1_HUMAN	glutamate decarboxylase-like 1	304					carboxylic acid metabolic process (GO:0019752)		aspartate 1-decarboxylase activity (GO:0004068)|pyridoxal phosphate binding (GO:0030170)|sulfinoalanine decarboxylase activity (GO:0004782)			breast(2)|endometrium(3)|kidney(2)|lung(17)|upper_aerodigestive_tract(1)	25						TGAGCCACCCCAAGAAGCCTG	0.443																																						ENST00000454381.3																			0				breast(2)|endometrium(3)|kidney(2)|lung(17)|upper_aerodigestive_tract(1)	25						c.(910-912)tGg>tAg		glutamate decarboxylase-like 1	Pyridoxal Phosphate(DB00114)						98.0	102.0	100.0					3																	30875766		2203	4300	6503	SO:0001587	stop_gained	339896				carboxylic acid metabolic process		carboxy-lyase activity|pyridoxal phosphate binding	g.chr3:30875766C>T	AK128643	CCDS2649.2	3p23-p22	2009-01-14			ENSG00000144644	ENSG00000144644			27949	protein-coding gene	gene with protein product		615601					Standard	NM_207359		Approved		uc003cep.2	Q6ZQY3	OTTHUMG00000130621	ENST00000282538.5:c.911G>A	3.37:g.30875766C>T	ENSP00000282538:p.Trp304*		Somatic				GADL1_ENST00000282538.5_Nonsense_Mutation_p.W304*	p.W304*			WXS	Illumina GAIIx	Phase_I	Q6ZQY3	GADL1_HUMAN			10	957	-			304						Nonsense_Mutation	SNP	ENST00000282538.5	37	c.911G>A	CCDS2649.2	.	.	.	.	.	.	.	.	.	.	C	38	6.715991	0.97784	.	.	ENSG00000144644	ENST00000282538;ENST00000454381	.	.	.	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.4679	19.0768	0.93165	0.0:1.0:0.0:0.0	.	.	.	.	X	304	.	ENSP00000282538:W304X	W	-	2	0	GADL1	30850770	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.154000	0.77437	2.513000	0.84729	0.561000	0.74099	TGG		0.443	GADL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253106.2	NM_207359		15	160	0	0	0	1	0	15	160				
OR5K4	403278	broad.mit.edu	37	3	98072960	98072960	+	Missense_Mutation	SNP	A	A	G			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr3:98072960A>G	ENST00000354924.2	+	1	263	c.263A>G	c.(262-264)gAg>gGg	p.E88G	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005517.1	NP_001005517.1	A6NMS3	OR5K4_HUMAN	olfactory receptor, family 5, subfamily K, member 4	88						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	21						TTCTTTTCTGAGGATAGAATT	0.428																																						ENST00000354924.2																			0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	21						c.(262-264)gAg>gGg		olfactory receptor, family 5, subfamily K, member 4							234.0	245.0	241.0					3																	98072960		2203	4300	6503	SO:0001583	missense	403278				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:98072960A>G		CCDS33802.1	3q11.2	2013-09-23			ENSG00000196098	ENSG00000196098		"""GPCR / Class A : Olfactory receptors"""	31291	protein-coding gene	gene with protein product							Standard	NM_001005517		Approved		uc011bgv.2	A6NMS3	OTTHUMG00000160081	ENST00000354924.2:c.263A>G	3.37:g.98072960A>G	ENSP00000347003:p.Glu88Gly		Somatic				RP11-325B23.2_ENST00000508616.1_lincRNA	p.E88G	NM_001005517.1	NP_001005517.1	WXS	Illumina GAIIx	Phase_I	A6NMS3	OR5K4_HUMAN			1	263	+			88						Missense_Mutation	SNP	ENST00000354924.2	37	c.263A>G	CCDS33802.1	.	.	.	.	.	.	.	.	.	.	A	0.298	-0.975476	0.02215	.	.	ENSG00000196098	ENST00000354924	T	0.10192	2.9	4.77	2.31	0.28768	GPCR, rhodopsin-like superfamily (1);	1.175640	0.06765	U	0.782531	T	0.06690	0.0171	N	0.17631	0.505	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.45175	-0.9279	10	0.13470	T	0.59	-2.1207	4.9896	0.14207	0.7394:0.0:0.0923:0.1683	.	88	A6NMS3	OR5K4_HUMAN	G	88	ENSP00000347003:E88G	ENSP00000347003:E88G	E	+	2	0	OR5K4	99555650	0.000000	0.05858	0.040000	0.18447	0.118000	0.20060	0.688000	0.25422	0.374000	0.24650	0.491000	0.48974	GAG		0.428	OR5K4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359114.1			8	1371	0	0	0	1	0	8	1371				
TFRC	7037	broad.mit.edu	37	3	195778819	195778819	+	Missense_Mutation	SNP	C	C	A			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr3:195778819C>A	ENST00000360110.4	-	19	2446	c.2277G>T	c.(2275-2277)gaG>gaT	p.E759D	TFRC_ENST00000420415.1_Missense_Mutation_p.E678D|TFRC_ENST00000540528.1_3'UTR|TFRC_ENST00000535031.1_Missense_Mutation_p.E477D|TFRC_ENST00000392396.3_Missense_Mutation_p.E759D	NM_001128148.1	NP_001121620.1	P02786	TFR1_HUMAN	transferrin receptor	759	Ligand-binding.				cellular iron ion homeostasis (GO:0006879)|iron ion import (GO:0097286)|osteoclast differentiation (GO:0030316)|positive regulation of bone resorption (GO:0045780)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|coated pit (GO:0005905)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)|vesicle (GO:0031982)	double-stranded RNA binding (GO:0003725)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|transferrin receptor activity (GO:0004998)			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_cancers(143;1.94e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.36e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.17e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00233)	Gallium nitrate(DB05260)	ACATTTAAAACTCATTGTCAA	0.438			T	BCL6	NHL																																	ENST00000360110.4				Dom	yes		3	3q29	7037	T	"""transferrin receptor (p90, CD71)"""			L	BCL6		NHL		0				NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(2275-2277)gaG>gaT		transferrin receptor							90.0	83.0	85.0					3																	195778819		2203	4300	6503	SO:0001583	missense	7037				cellular iron ion homeostasis|endocytosis|interspecies interaction between organisms|proteolysis|transferrin transport|transmembrane transport	coated pit|endosome|integral to plasma membrane|melanosome	peptidase activity|transferrin receptor activity	g.chr3:195778819C>A	X01060	CCDS3312.1	3q29	2013-09-19	2013-09-19		ENSG00000072274	ENSG00000072274		"""CD molecules"""	11763	protein-coding gene	gene with protein product		190010	"""transferrin receptor (p90, CD71)"""				Standard	NM_003234		Approved	CD71, TFR1, p90	uc003fwa.4	P02786	OTTHUMG00000155714	ENST00000360110.4:c.2277G>T	3.37:g.195778819C>A	ENSP00000353224:p.Glu759Asp		Somatic				TFRC_ENST00000540528.1_3'UTR|TFRC_ENST00000535031.1_Missense_Mutation_p.E477D|TFRC_ENST00000420415.1_Missense_Mutation_p.E678D|TFRC_ENST00000392396.3_Missense_Mutation_p.E759D	p.E759D	NM_001128148.1	NP_001121620.1	WXS	Illumina GAIIx	Phase_I	P02786	TFR1_HUMAN	Epithelial(36;1.36e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.17e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00233)	19	2446	-	all_cancers(143;1.94e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		759			Ligand-binding.		D3DXB0|Q1HE24|Q59G55|Q9UCN0|Q9UCU5|Q9UDF9|Q9UK21	Missense_Mutation	SNP	ENST00000360110.4	37	c.2277G>T	CCDS3312.1	.	.	.	.	.	.	.	.	.	.	C	12.11	1.838828	0.32513	.	.	ENSG00000072274	ENST00000360110;ENST00000420415;ENST00000392396;ENST00000535031	T;T;T;T	0.58060	0.76;0.81;0.76;0.36	6.06	0.294	0.15747	.	0.348037	0.35320	N	0.003282	T	0.37265	0.0997	L	0.52364	1.645	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.14309	-1.0477	10	0.44086	T	0.13	-10.9423	1.8738	0.03214	0.1306:0.3389:0.1286:0.4019	.	759	P02786	TFR1_HUMAN	D	759;678;759;477	ENSP00000353224:E759D;ENSP00000390133:E678D;ENSP00000376197:E759D;ENSP00000437753:E477D	ENSP00000353224:E759D	E	-	3	2	TFRC	197263216	0.812000	0.29077	0.992000	0.48379	0.983000	0.72400	-0.091000	0.11146	0.095000	0.17434	0.655000	0.94253	GAG		0.438	TFRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341346.1			26	82	1	0	1.2476e-16	1	1.45693e-16	26	82				
BMX	660	broad.mit.edu	37	X	15540535	15540535	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chrX:15540535C>T	ENST00000357607.2	+	7	765	c.577C>T	c.(577-579)Caa>Taa	p.Q193*	BMX_ENST00000348343.6_Nonsense_Mutation_p.Q193*|BMX_ENST00000342014.6_Nonsense_Mutation_p.Q193*			P51813	BMX_HUMAN	BMX non-receptor tyrosine kinase	193					apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|response to stress (GO:0006950)|signal transduction (GO:0007165)	cytosol (GO:0005829)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|signal transducer activity (GO:0004871)	p.Q193K(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(14)|ovary(2)|urinary_tract(3)	30	Hepatocellular(33;0.183)					CACTCTAGCCCAATATGACAA	0.428																																						ENST00000357607.2																			1	Substitution - Missense(1)	p.Q193K(1)	lung(1)	breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(14)|ovary(2)|urinary_tract(3)	30						c.(577-579)Caa>Taa		BMX non-receptor tyrosine kinase							158.0	143.0	149.0					X																	15540535		2203	4300	6503	SO:0001587	stop_gained	660				cellular component disassembly involved in apoptosis|intracellular signal transduction|mesoderm development	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|signal transducer activity	g.chrX:15540535C>T	AF045459	CCDS14168.1	Xp22.2	2013-05-14			ENSG00000102010	ENSG00000102010		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	1079	protein-coding gene	gene with protein product	"""BTK-like on X chromosome"""	300101				7970727	Standard	NM_203281		Approved	ETK, PSCTK3	uc004cwx.4	P51813	OTTHUMG00000021180	ENST00000357607.2:c.577C>T	X.37:g.15540535C>T	ENSP00000350224:p.Gln193*		Somatic				BMX_ENST00000342014.6_Nonsense_Mutation_p.Q193*|BMX_ENST00000348343.6_Nonsense_Mutation_p.Q193*	p.Q193*			WXS	Illumina GAIIx	Phase_I	P51813	BMX_HUMAN			7	765	+	Hepatocellular(33;0.183)		193					A6NIH9|O60564|Q12871	Nonsense_Mutation	SNP	ENST00000357607.2	37	c.577C>T	CCDS14168.1	.	.	.	.	.	.	.	.	.	.	c	18.26	3.584873	0.65992	.	.	ENSG00000102010	ENST00000357607;ENST00000348343;ENST00000342014	.	.	.	3.45	2.54	0.30619	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05833	T	0.94	.	7.0294	0.24958	0.0:0.5809:0.4191:0.0	.	.	.	.	X	193	.	ENSP00000340082:Q193X	Q	+	1	0	BMX	15450456	0.002000	0.14202	0.001000	0.08648	0.049000	0.14656	0.792000	0.26929	1.342000	0.45619	0.597000	0.82753	CAA		0.428	BMX-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055877.1	NM_001721		11	275	0	0	0	1	0	11	275				
PELI1	57162	broad.mit.edu	37	2	64323337	64323337	+	Silent	SNP	T	T	C	rs374621766	byFrequency	TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr2:64323337T>C	ENST00000358912.4	-	6	1054	c.612A>G	c.(610-612)ggA>ggG	p.G204G		NM_020651.3	NP_065702.2	Q96FA3	PELI1_HUMAN	pellino E3 ubiquitin protein ligase 1	204					innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cytokine production (GO:0001819)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of toll-like receptor 3 signaling pathway (GO:0034141)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|protein K48-linked ubiquitination (GO:0070936)|response to dsRNA (GO:0043331)|response to lipopolysaccharide (GO:0032496)|Toll signaling pathway (GO:0008063)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)	cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|urinary_tract(1)	19						CTCTCCATATTCCAGGCTTGG	0.438																																						ENST00000358912.4																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|urinary_tract(1)	19						c.(610-612)ggA>ggG		pellino E3 ubiquitin protein ligase 1							171.0	156.0	161.0					2																	64323337		2203	4300	6503	SO:0001819	synonymous_variant	57162				innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol		g.chr2:64323337T>C		CCDS1876.1	2p13.3	2012-02-23	2012-02-23		ENSG00000197329	ENSG00000197329		"""Pellino homologs"""	8827	protein-coding gene	gene with protein product		614797	"""pellino (Drosophila) homolog 1"", ""pellino homolog 1 (Drosophila)"""			11306823, 16951688	Standard	NM_020651		Approved		uc002sct.4	Q96FA3	OTTHUMG00000129511	ENST00000358912.4:c.612A>G	2.37:g.64323337T>C			Somatic					p.G204G	NM_020651.3	NP_065702.2	WXS	Illumina GAIIx	Phase_I	Q96FA3	PELI1_HUMAN			6	1054	-			204					Q96SM0|Q9GZY5|Q9HCX0	Silent	SNP	ENST00000358912.4	37	c.612A>G	CCDS1876.1																																																																																				0.438	PELI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251686.1	NM_020651		78	72	0	0	0	1	0	78	72				
DMBT1	1755	broad.mit.edu	37	10	124380756	124380756	+	Missense_Mutation	SNP	G	G	A	rs111726992		TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr10:124380756G>A	ENST00000338354.3	+	41	5187	c.5081G>A	c.(5080-5082)cGg>cAg	p.R1694Q	DMBT1_ENST00000344338.3_Missense_Mutation_p.R1684Q|DMBT1_ENST00000368955.3_Missense_Mutation_p.R1684Q|DMBT1_ENST00000330163.4_Missense_Mutation_p.R1066Q|DMBT1_ENST00000368956.2_Missense_Mutation_p.R1066Q|DMBT1_ENST00000368909.3_Missense_Mutation_p.R1694Q|DMBT1_ENST00000359586.6_Intron			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	1694	SRCR 13. {ECO:0000255|PROSITE- ProRule:PRU00196}.				defense response to virus (GO:0051607)|epithelial cell differentiation (GO:0030855)|induction of bacterial agglutination (GO:0043152)|innate immune response (GO:0045087)|inner cell mass cell proliferation (GO:0001833)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of epithelial cell differentiation (GO:0030858)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|phagocytic vesicle membrane (GO:0030670)|proteinaceous extracellular matrix (GO:0005578)|zymogen granule membrane (GO:0042589)	calcium-dependent protein binding (GO:0048306)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|zymogen binding (GO:0035375)			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GGAAATGCCCGGTTTGGCCAG	0.617																																					Ovarian(182;93 2026 18125 22222 38972)	ENST00000338354.3																			0				breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72						c.(5080-5082)cGg>cAg		deleted in malignant brain tumors 1							148.0	150.0	150.0					10																	124380756		1964	4153	6117	SO:0001583	missense	1755				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding	g.chr10:124380756G>A		CCDS44490.1, CCDS44491.1, CCDS44492.1	10q25.3-q26.1	2008-08-01			ENSG00000187908	ENSG00000187908			2926	protein-coding gene	gene with protein product		601969				9288095, 17548659	Standard	NM_004406		Approved	GP340, muclin	uc001lgk.1	Q9UGM3	OTTHUMG00000019185	ENST00000338354.3:c.5081G>A	10.37:g.124380756G>A	ENSP00000342210:p.Arg1694Gln		Somatic				DMBT1_ENST00000330163.4_Missense_Mutation_p.R1066Q|DMBT1_ENST00000344338.3_Missense_Mutation_p.R1684Q|DMBT1_ENST00000368956.2_Missense_Mutation_p.R1066Q|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000368909.3_Missense_Mutation_p.R1694Q|DMBT1_ENST00000368955.3_Missense_Mutation_p.R1684Q	p.R1694Q			WXS	Illumina GAIIx	Phase_I	Q9UGM3	DMBT1_HUMAN			41	5187	+		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)	1694			SRCR 13.		A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	Missense_Mutation	SNP	ENST00000338354.3	37	c.5081G>A		.	.	.	.	.	.	.	.	.	.	-	4.526	0.097660	0.08681	.	.	ENSG00000187908	ENST00000338354;ENST00000368915;ENST00000341278;ENST00000368953;ENST00000339871;ENST00000368942;ENST00000327438;ENST00000344338;ENST00000339712;ENST00000330163;ENST00000368909;ENST00000368955;ENST00000368956	T;T;T;T;T;T	0.44482	0.92;0.92;0.92;0.92;0.92;0.92	3.79	-2.02	0.07388	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	3.705740	0.01089	N	0.005157	T	0.30448	0.0765	N	0.16201	0.385	0.09310	N	0.999999	P;P;P;B;B;P	0.50819	0.939;0.849;0.71;0.373;0.04;0.781	P;B;B;B;B;B	0.47162	0.54;0.074;0.14;0.095;0.009;0.364	T	0.14200	-1.0481	10	0.29301	T	0.29	.	5.6923	0.17837	0.4958:0.0:0.375:0.1292	.	1694;943;1823;1066;1684;1694	Q9UGM3-5;Q9UGM3-8;Q9UGM3-6;Q9UGM3-2;Q9UGM3-3;Q9UGM3	.;.;.;.;.;DMBT1_HUMAN	Q	1694;1823;1694;1694;1694;1694;1066;1684;1066;1066;1694;1684;1066	ENSP00000342210:R1694Q;ENSP00000343175:R1684Q;ENSP00000327747:R1066Q;ENSP00000357905:R1694Q;ENSP00000357951:R1684Q;ENSP00000357952:R1066Q	ENSP00000331522:R1066Q	R	+	2	0	DMBT1	124370746	0.000000	0.05858	0.028000	0.17463	0.177000	0.22998	-2.203000	0.01234	-0.472000	0.06881	0.461000	0.40582	CGG		0.617	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050792.2	NM_004406		7	340	0	0	0	1	0	7	340				
TTC3	7267	broad.mit.edu	37	21	38568017	38568017	+	Silent	SNP	C	C	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr21:38568017C>T	ENST00000399017.2	+	42	8006	c.5259C>T	c.(5257-5259)ggC>ggT	p.G1753G	TTC3_ENST00000354749.2_Silent_p.G1753G|TTC3_ENST00000355666.1_Silent_p.G1753G|TTC3_ENST00000479930.1_3'UTR|TTC3-AS1_ENST00000424733.1_RNA	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	1753					negative regulation of cell morphogenesis involved in differentiation (GO:0010771)|negative regulation of neuron differentiation (GO:0045665)|protein K48-linked ubiquitination (GO:0070936)|ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|vacuole (GO:0005773)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				GCGACGATGGCCAAGGGCTTG	0.557																																					Ovarian(38;194 1649 35661)	ENST00000399017.2																			0				breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75						c.(5257-5259)ggC>ggT		tetratricopeptide repeat domain 3							202.0	206.0	205.0					21																	38568017		2203	4300	6503	SO:0001819	synonymous_variant	7267				protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr21:38568017C>T	D84296	CCDS13651.1	21q22.2	2013-01-11			ENSG00000182670	ENSG00000182670		"""RING-type (C3HC4) zinc fingers"", ""Tetratricopeptide (TTC) repeat domain containing"""	12393	protein-coding gene	gene with protein product		602259				8947847	Standard	NM_003316		Approved	TPRD, TPRDI, DCRR1, TPRDII, TPRDIII, RNF105	uc002yvz.3	P53804	OTTHUMG00000086654	ENST00000399017.2:c.5259C>T	21.37:g.38568017C>T			Somatic				TTC3_ENST00000354749.2_Silent_p.G1753G|TTC3_ENST00000355666.1_Silent_p.G1753G|TTC3_ENST00000479930.1_3'UTR	p.G1753G	NM_003316.3	NP_003307.3	WXS	Illumina GAIIx	Phase_I	P53804	TTC3_HUMAN			42	8006	+		Myeloproliferative disorder(46;0.0412)	1753					A8K7H7|B2RPA7|D3DSG9|D3DSH2|D3DSH3|O60767|P78476|P78477|Q569I2|Q6P578|Q9UEK4	Silent	SNP	ENST00000399017.2	37	c.5259C>T	CCDS13651.1	.	.	.	.	.	.	.	.	.	.	C	7.621	0.676920	0.14841	.	.	ENSG00000182670	ENST00000428693	.	.	.	4.72	-2.78	0.05859	.	.	.	.	.	T	0.18002	0.0432	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.24012	-1.0172	4	.	.	.	-0.5688	0.9568	0.01387	0.1615:0.2926:0.1494:0.3965	.	.	.	.	S	45	.	.	P	+	1	0	TTC3	37489887	0.000000	0.05858	0.000000	0.03702	0.156000	0.22039	-1.021000	0.03615	-0.686000	0.05170	-0.471000	0.05019	CCA		0.557	TTC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194776.1			4	456	0	0	0	1	0	4	456				
U2SURP	23350	broad.mit.edu	37	3	142772557	142772557	+	Missense_Mutation	SNP	A	A	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr3:142772557A>C	ENST00000473835.2	+	26	2785	c.2695A>C	c.(2695-2697)Aag>Cag	p.K899Q	U2SURP_ENST00000493598.2_Missense_Mutation_p.K898Q|U2SURP_ENST00000397933.2_Missense_Mutation_p.K490Q	NM_001080415.1	NP_001073884.1	O15042	SR140_HUMAN	U2 snRNP-associated SURP domain containing	899	Glu-rich.				RNA processing (GO:0006396)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	31						agaaagagacaagaaagataa	0.303																																						ENST00000397933.2																			0				NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	31						c.(1468-1470)Aag>Cag		U2 snRNP-associated SURP domain containing							72.0	67.0	68.0					3																	142772557		1813	4073	5886	SO:0001583	missense	23350				RNA processing	nucleus	nucleotide binding|RNA binding	g.chr3:142772557A>C	BK000564	CCDS46928.1	3q23	2013-02-12			ENSG00000163714	ENSG00000163714		"""RNA binding motif (RRM) containing"""	30855	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein a"", ""Ser/Arg-rich domain protein, 140 kDa"", ""U2 associated SR140 protein"""					9205841, 12234937	Standard	NM_001080415		Approved	fSAPa, SR140	uc003evh.1	O15042	OTTHUMG00000159323	ENST00000473835.2:c.2695A>C	3.37:g.142772557A>C	ENSP00000418563:p.Lys899Gln		Somatic				U2SURP_ENST00000493598.2_Missense_Mutation_p.K898Q|U2SURP_ENST00000473835.2_Missense_Mutation_p.K899Q	p.K490Q			WXS	Illumina GAIIx	Phase_I	O15042	SR140_HUMAN			25	2750	+			899					A0PJ60|Q0D2M1|Q2NKQ7|Q9BR70	Missense_Mutation	SNP	ENST00000473835.2	37	c.1468A>C	CCDS46928.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	14.95|14.95	2.688689|2.688689	0.48097|0.48097	.|.	.|.	ENSG00000163714|ENSG00000163714	ENST00000473835;ENST00000319822;ENST00000397933;ENST00000493598;ENST00000480029|ENST00000467348	T;T;T;D|.	0.88586|.	0.97;0.97;0.97;-2.4|.	6.02|6.02	6.02|6.02	0.97574|0.97574	.|.	0.211953|.	0.53938|.	D|.	0.000048|.	T|T	0.39886|0.39886	0.1095|0.1095	N|N	0.08118|0.08118	0|0	0.58432|0.58432	D|D	0.999999|0.999999	P;P;P|.	0.48294|.	0.908;0.769;0.851|.	P;P;P|.	0.61397|.	0.888;0.888;0.775|.	T|T	0.36335|0.36335	-0.9752|-0.9752	10|5	0.32370|.	T|.	0.25|.	-2.4882|-2.4882	15.3687|15.3687	0.74545|0.74545	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	898;490;899|.	O15042-2;O15042-3;O15042|.	.;.;SR140_HUMAN|.	Q|P	899;899;490;898;466|218	ENSP00000418563:K899Q;ENSP00000381027:K490Q;ENSP00000422011:K898Q;ENSP00000417441:K466Q|.	ENSP00000322376:K899Q|.	K|Q	+|+	1|2	0|0	U2SURP|U2SURP	144255247|144255247	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.998000|0.998000	0.95712|0.95712	4.899000|4.899000	0.63245|0.63245	2.311000|2.311000	0.77944|0.77944	0.533000|0.533000	0.62120|0.62120	AAG|CAA		0.303	U2SURP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354603.2	NM_001080415		3	100	0	0	0	1	0	3	100				
FCRLB	127943	broad.mit.edu	37	1	161693219	161693219	+	Missense_Mutation	SNP	C	C	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr1:161693219C>T	ENST00000367948.2	+	5	330	c.115C>T	c.(115-117)Cgg>Tgg	p.R39W	FCRLB_ENST00000367944.3_Missense_Mutation_p.R32W|FCRLB_ENST00000367946.3_Missense_Mutation_p.R39W|FCRLB_ENST00000392158.1_Missense_Mutation_p.R39W|FCRLB_ENST00000367945.1_Missense_Mutation_p.R32W|FCRLB_ENST00000336830.5_Missense_Mutation_p.R39W			Q6BAA4	FCRLB_HUMAN	Fc receptor-like B	39	Ig-like C2-type 1.				negative regulation of immune response (GO:0050777)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|skin(1)	17	all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00634)			CAAAGGGGAGCGGGTAACTTT	0.557																																						ENST00000367948.2																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|skin(1)	17						c.(115-117)Cgg>Tgg		Fc receptor-like B							135.0	133.0	133.0					1																	161693219		2203	4300	6503	SO:0001583	missense	127943					endoplasmic reticulum		g.chr1:161693219C>T	AY670683	CCDS30927.1, CCDS72962.1, CCDS72963.1, CCDS72964.1, CCDS72965.1	1q23.3	2013-01-11	2006-09-26	2006-09-26	ENSG00000162746	ENSG00000162746		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	26431	protein-coding gene	gene with protein product		609251	"""Fc receptor-like and mucin-like 2"""	FCRLM2		15676285	Standard	NM_001288829		Approved	FLJ31052, FCRL2, FREB-2, FCRLY	uc001gbi.3	Q6BAA4	OTTHUMG00000133629	ENST00000367948.2:c.115C>T	1.37:g.161693219C>T	ENSP00000356925:p.Arg39Trp		Somatic				FCRLB_ENST00000367944.3_Missense_Mutation_p.R32W|FCRLB_ENST00000392158.1_Missense_Mutation_p.R39W|FCRLB_ENST00000367946.3_Missense_Mutation_p.R39W|FCRLB_ENST00000367945.1_Missense_Mutation_p.R32W|FCRLB_ENST00000336830.5_Missense_Mutation_p.R39W	p.R39W			WXS	Illumina GAIIx	Phase_I	Q6BAA4	FCRLB_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00634)		5	330	+	all_hematologic(112;0.0359)		39			Ig-like C2-type 1.		A2A3J5|A2A3J7|Q5VXA6|Q6BAA0|Q6BAA1|Q6BAA2|Q6BAA3|Q8IXZ7	Missense_Mutation	SNP	ENST00000367948.2	37	c.115C>T	CCDS30927.1	.	.	.	.	.	.	.	.	.	.	C	18.01	3.528542	0.64860	.	.	ENSG00000162746	ENST00000367948;ENST00000367946;ENST00000367945;ENST00000336830;ENST00000367944;ENST00000392158	T;T;T;T;T;T	0.13089	2.62;2.62;2.62;2.62;2.62;2.62	5.76	1.57	0.23409	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.159042	0.29699	N	0.011426	T	0.15435	0.0372	L	0.52573	1.65	0.30560	N	0.76456	D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;0.998	D;D;P;D;P	0.66084	0.941;0.928;0.9;0.928;0.902	T	0.03662	-1.1015	10	0.87932	D	0	.	13.0455	0.58924	0.592:0.408:0.0:0.0	.	32;32;39;39;39	Q6BAA4-3;Q6BAA4-5;Q6BAA4-2;Q6BAA4-4;Q6BAA4	.;.;.;.;FCRLB_HUMAN	W	39;39;32;39;32;39	ENSP00000356925:R39W;ENSP00000356923:R39W;ENSP00000356922:R32W;ENSP00000338598:R39W;ENSP00000356921:R32W;ENSP00000375999:R39W	ENSP00000338598:R39W	R	+	1	2	FCRLB	159959843	0.985000	0.35326	0.529000	0.27951	0.763000	0.43281	-0.137000	0.10389	0.019000	0.15079	0.655000	0.94253	CGG		0.557	FCRLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083585.1	NM_152378		4	229	0	0	0	1	0	4	229				
FREM2	341640	broad.mit.edu	37	13	39265811	39265811	+	Silent	SNP	C	C	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr13:39265811C>T	ENST00000280481.7	+	1	4546	c.4330C>T	c.(4330-4332)Cta>Tta	p.L1444L		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	1444					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		AACAGACCTACTAAGCACTAG	0.473																																						ENST00000280481.7																			0				NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148						c.(4330-4332)Cta>Tta		FRAS1 related extracellular matrix protein 2							146.0	118.0	128.0					13																	39265811		2203	4300	6503	SO:0001819	synonymous_variant	341640				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr13:39265811C>T	BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.4330C>T	13.37:g.39265811C>T			Somatic					p.L1444L	NM_207361.4	NP_997244.3	WXS	Illumina GAIIx	Phase_I	Q5SZK8	FREM2_HUMAN		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)	1	4546	+		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)	1444					Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Silent	SNP	ENST00000280481.7	37	c.4330C>T	CCDS31960.1																																																																																				0.473	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361		5	83	0	0	0	1	0	5	83				
FRG1B	284802	broad.mit.edu	37	20	29628245	29628245	+	Missense_Mutation	SNP	G	G	A			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr20:29628245G>A	ENST00000278882.3	+	6	627	c.247G>A	c.(247-249)Gcc>Acc	p.A83T	FRG1B_ENST00000358464.4_Missense_Mutation_p.A83T|FRG1B_ENST00000439954.2_Missense_Mutation_p.A88T			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	83								p.A83T(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGCTTTGTTGGCCTCAAATAG	0.353																																						ENST00000278882.3																			2	Substitution - Missense(2)	p.A83T(2)	urinary_tract(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(247-249)Gcc>Acc																																						SO:0001583	missense	284802							g.chr20:29628245G>A			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.247G>A	20.37:g.29628245G>A	ENSP00000278882:p.Ala83Thr		Somatic				FRG1B_ENST00000439954.2_Missense_Mutation_p.A88T|FRG1B_ENST00000358464.4_Missense_Mutation_p.A83T	p.A83T			WXS	Illumina GAIIx	Phase_I					6	627	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.247G>A		.	.	.	.	.	.	.	.	.	.	g	18.80	3.700173	0.68501	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.50277	0.75	2.08	2.08	0.27032	Actin cross-linking (1);	0.055129	0.64402	D	0.000001	T	0.40473	0.1118	.	.	.	0.51482	D	0.99992	B;P	0.40875	0.016;0.731	B;P	0.45558	0.085;0.485	T	0.12502	-1.0545	9	0.21540	T	0.41	.	10.2211	0.43198	0.0:0.0:1.0:0.0	.	88;83	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	T	83;88;83	ENSP00000408863:A88T	ENSP00000278882:A83T	A	+	1	0	FRG1B	28241906	1.000000	0.71417	1.000000	0.80357	0.609000	0.37215	8.494000	0.90477	1.475000	0.48197	0.423000	0.28283	GCC		0.353	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		5	282	0	0	0	1	0	5	282				
LMNB1	4001	broad.mit.edu	37	5	126156699	126156699	+	Missense_Mutation	SNP	G	G	A			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr5:126156699G>A	ENST00000261366.5	+	7	1619	c.1258G>A	c.(1258-1260)Gat>Aat	p.D420N	LMNB1_ENST00000460265.1_3'UTR	NM_001198557.1|NM_005573.3	NP_001185486.1|NP_005564.1	P20700	LMNB1_HUMAN	lamin B1	420	Tail.				apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	lamin filament (GO:0005638)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear inner membrane (GO:0005637)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(142;0.103)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.033)|OV - Ovarian serous cystadenocarcinoma(64;0.0398)|all cancers(49;0.0903)		GAAGAGGGTTGATGTGGAAGA	0.473																																						ENST00000261366.5																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(1258-1260)Gat>Aat		lamin B1							159.0	133.0	142.0					5																	126156699		2203	4300	6503	SO:0001583	missense	4001				cellular component disassembly involved in apoptosis	lamin filament|nuclear inner membrane	protein binding|structural molecule activity	g.chr5:126156699G>A	L37737	CCDS4140.1	5q23.2	2013-01-16			ENSG00000113368	ENSG00000113368		"""Intermediate filaments type V, lamins"""	6637	protein-coding gene	gene with protein product		150340				7557986, 8838815	Standard	NM_005573		Approved		uc003kud.2	P20700	OTTHUMG00000128969	ENST00000261366.5:c.1258G>A	5.37:g.126156699G>A	ENSP00000261366:p.Asp420Asn		Somatic				LMNB1_ENST00000460265.1_3'UTR	p.D420N	NM_001198557.1|NM_005573.3	NP_001185486.1|NP_005564.1	WXS	Illumina GAIIx	Phase_I	P20700	LMNB1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.033)|OV - Ovarian serous cystadenocarcinoma(64;0.0398)|all cancers(49;0.0903)	7	1619	+		all_cancers(142;0.103)|Prostate(80;0.081)	420			Tail.		B2R6J6|Q3SYN7|Q96EI6	Missense_Mutation	SNP	ENST00000261366.5	37	c.1258G>A	CCDS4140.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.888085	0.91814	.	.	ENSG00000113368	ENST00000261366	D	0.98280	-4.84	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	D	0.95188	0.8440	L	0.27053	0.805	0.80722	D	1	B	0.32829	0.386	B	0.24269	0.052	D	0.93623	0.6949	10	0.19590	T	0.45	.	20.4008	0.98991	0.0:0.0:1.0:0.0	.	420	P20700	LMNB1_HUMAN	N	420	ENSP00000261366:D420N	ENSP00000261366:D420N	D	+	1	0	LMNB1	126184598	1.000000	0.71417	0.366000	0.25914	0.954000	0.61252	5.427000	0.66483	2.826000	0.97356	0.655000	0.94253	GAT		0.473	LMNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250956.2	NM_005573		16	70	0	0	0	1	0	16	70				
ZFYVE27	118813	broad.mit.edu	37	10	99498404	99498404	+	Missense_Mutation	SNP	C	C	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr10:99498404C>T	ENST00000393677.4	+	2	374	c.170C>T	c.(169-171)gCa>gTa	p.A57V	ZFYVE27_ENST00000370613.3_Missense_Mutation_p.A57V|ZFYVE27_ENST00000357540.4_Missense_Mutation_p.A57V|ZFYVE27_ENST00000453958.2_Missense_Mutation_p.A57V|ZFYVE27_ENST00000370610.3_Intron|ZFYVE27_ENST00000356257.4_Missense_Mutation_p.A57V|ZFYVE27_ENST00000337540.7_Missense_Mutation_p.A57V|ZFYVE27_ENST00000359980.3_Missense_Mutation_p.A57V	NM_144588.6	NP_653189.3	Q5T4F4	ZFY27_HUMAN	zinc finger, FYVE domain containing 27	57	Necessary for interaction with RAB11A and function in neurite outgrowth.				cell death (GO:0008219)|neuron projection development (GO:0031175)|neurotrophin TRK receptor signaling pathway (GO:0048011)|protein localization to plasma membrane (GO:0072659)	axon (GO:0030424)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|recycling endosome membrane (GO:0055038)	metal ion binding (GO:0046872)			endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	8		Colorectal(252;0.0846)		Epithelial(162;7.08e-10)|all cancers(201;5.18e-08)		TTGAAGGATGCAGGTGATGGT	0.507																																						ENST00000393677.4																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	8						c.(169-171)gCa>gTa		zinc finger, FYVE domain containing 27							130.0	129.0	130.0					10																	99498404		2203	4300	6503	SO:0001583	missense	118813				cell death|nerve growth factor receptor signaling pathway|neuron projection development|protein localization in plasma membrane	axon|dendrite|endoplasmic reticulum membrane|growth cone membrane|integral to membrane|recycling endosome membrane	metal ion binding|protein binding	g.chr10:99498404C>T	BC030621	CCDS31263.1, CCDS31264.1, CCDS53562.1, CCDS53563.1, CCDS53564.1, CCDS53565.1	10q24.2	2013-09-11			ENSG00000155256	ENSG00000155256		"""Zinc fingers, FYVE domain containing"""	26559	protein-coding gene	gene with protein product	"""protrudin"""	610243				14702039	Standard	NM_144588		Approved	FLJ32919, SPG33	uc001kol.2	Q5T4F4	OTTHUMG00000018867	ENST00000393677.4:c.170C>T	10.37:g.99498404C>T	ENSP00000377282:p.Ala57Val		Somatic				ZFYVE27_ENST00000453958.2_Missense_Mutation_p.A57V|ZFYVE27_ENST00000370613.3_Missense_Mutation_p.A57V|ZFYVE27_ENST00000337540.7_Missense_Mutation_p.A57V|ZFYVE27_ENST00000356257.4_Missense_Mutation_p.A57V|ZFYVE27_ENST00000359980.3_Missense_Mutation_p.A57V|ZFYVE27_ENST00000357540.4_Missense_Mutation_p.A57V|ZFYVE27_ENST00000370610.3_Intron	p.A57V	NM_144588.6	NP_653189.3	WXS	Illumina GAIIx	Phase_I	Q5T4F4	ZFY27_HUMAN		Epithelial(162;7.08e-10)|all cancers(201;5.18e-08)	2	374	+		Colorectal(252;0.0846)	57			Necessary for interaction with RAB11A and function in neurite outgrowth.		B7Z3S0|B7Z404|B7Z626|G8JLC3|G8JLF0|J3KP98|Q5T4F1|Q5T4F2|Q5T4F3|Q8N1K0|Q8N6D6|Q8NCA0|Q8NDE4|Q96M08	Missense_Mutation	SNP	ENST00000393677.4	37	c.170C>T	CCDS31263.1	.	.	.	.	.	.	.	.	.	.	C	19.07	3.755404	0.69648	.	.	ENSG00000155256	ENST00000337540;ENST00000357540;ENST00000370613;ENST00000393677;ENST00000453958;ENST00000359980;ENST00000356257;ENST00000423811	T;T;T;T;T;T	0.48836	0.8;1.5;1.46;1.49;1.5;1.52	5.04	5.04	0.67666	.	0.115208	0.64402	D	0.000018	T	0.38852	0.1056	L	0.29908	0.895	0.80722	D	1	B;B;B;B;B;B	0.31859	0.232;0.176;0.154;0.154;0.343;0.096	B;B;B;B;B;B	0.34931	0.094;0.016;0.054;0.054;0.192;0.024	T	0.40001	-0.9586	10	0.72032	D	0.01	-11.3773	12.4805	0.55839	0.0:0.9179:0.0:0.0821	.	57;57;57;57;57;57	B7Z404;B7Z626;Q5T4F4-5;Q5T4F4-3;Q5T4F4-2;Q5T4F4	.;.;.;.;.;ZFY27_HUMAN	V	57;57;57;57;57;57;57;35	ENSP00000337993:A57V;ENSP00000377282:A57V;ENSP00000401580:A57V;ENSP00000353069:A57V;ENSP00000348593:A57V;ENSP00000409594:A35V	ENSP00000337993:A57V	A	+	2	0	ZFYVE27	99488394	0.986000	0.35501	1.000000	0.80357	0.996000	0.88848	3.424000	0.52764	2.331000	0.79229	0.561000	0.74099	GCA		0.507	ZFYVE27-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049745.2	NM_144588		6	372	0	0	0	1	0	6	372				
VWA2	340706	broad.mit.edu	37	10	116042303	116042303	+	Missense_Mutation	SNP	G	G	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr10:116042303G>T	ENST00000392982.3	+	9	1112	c.862G>T	c.(862-864)Gcc>Tcc	p.A288S	VWA2_ENST00000603594.1_Missense_Mutation_p.A288S			Q5GFL6	VWA2_HUMAN	von Willebrand factor A domain containing 2	288					calcium-independent cell-matrix adhesion (GO:0007161)|protein homooligomerization (GO:0051260)|regulation of insulin receptor signaling pathway (GO:0046626)	basement membrane (GO:0005604)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	identical protein binding (GO:0042802)			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Epithelial(162;0.036)|all cancers(201;0.0793)		AACCCACCCTGCCACCTGCTA	0.493																																						ENST00000603594.1																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26						c.(862-864)Gcc>Tcc		von Willebrand factor A domain containing 2							121.0	116.0	118.0					10																	116042303		2203	4300	6503	SO:0001583	missense	340706					extracellular region		g.chr10:116042303G>T	AK127756	CCDS7589.1, CCDS7589.2	10q25.3	2009-11-06			ENSG00000165816	ENSG00000165816			24709	protein-coding gene	gene with protein product						15580307, 14506275	Standard	NM_001272046		Approved	FLJ45857, FLJ16213, CCSP-2, AMACO, NET42	uc001lbl.2	Q5GFL6	OTTHUMG00000019082	ENST00000392982.3:c.862G>T	10.37:g.116042303G>T	ENSP00000376708:p.Ala288Ser		Somatic				VWA2_ENST00000392982.3_Missense_Mutation_p.A288S	p.A288S	NM_001272046.1	NP_001258975.1	WXS	Illumina GAIIx	Phase_I	Q5GFL6	VWA2_HUMAN		Epithelial(162;0.036)|all cancers(201;0.0793)	9	1183	+			288					A1A5D4|B5MDJ8|Q6ZS39|Q6ZWJ7|Q708C5|Q70UZ8	Missense_Mutation	SNP	ENST00000392982.3	37	c.862G>T		.	.	.	.	.	.	.	.	.	.	G	1.743	-0.491319	0.04322	.	.	ENSG00000165816	ENST00000392982;ENST00000298715	T	0.67698	-0.28	5.66	-1.79	0.07932	.	0.376539	0.29185	N	0.012896	T	0.48768	0.1518	L	0.52364	1.645	0.18873	N	0.999989	B;B	0.18863	0.018;0.031	B;B	0.17098	0.007;0.017	T	0.27123	-1.0083	10	0.16420	T	0.52	.	4.2937	0.10890	0.4511:0.0:0.2903:0.2586	.	288;288	Q5GFL6;Q5GFL6-2	VWA2_HUMAN;.	S	288	ENSP00000376708:A288S	ENSP00000298715:A288S	A	+	1	0	VWA2	116032293	0.059000	0.20769	0.027000	0.17364	0.023000	0.10783	0.228000	0.17814	-0.397000	0.07691	-1.028000	0.02416	GCC		0.493	VWA2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050456.3	NM_198496		5	107	1	0	0.00307968	1	0.0032281	5	107				
MACF1	23499	broad.mit.edu	37	1	39889745	39889745	+	Missense_Mutation	SNP	C	C	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr1:39889745C>T	ENST00000372915.3	+	60	16297	c.16210C>T	c.(16210-16212)Ctt>Ttt	p.L5404F	MACF1_ENST00000289893.4_Missense_Mutation_p.L3839F|MACF1_ENST00000545844.1_Missense_Mutation_p.L3337F|MACF1_ENST00000317713.7_Missense_Mutation_p.L3337F|MACF1_ENST00000564288.1_Missense_Mutation_p.L5399F|MACF1_ENST00000567887.1_Missense_Mutation_p.L5436F|MACF1_ENST00000539005.1_Missense_Mutation_p.L3316F|MACF1_ENST00000361689.2_Missense_Mutation_p.L3337F			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	5404					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AGTAGACATGCTTCAAGCAGA	0.443																																						ENST00000564288.1																			0				breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203						c.(16195-16197)Ctt>Ttt		microtubule-actin crosslinking factor 1							76.0	76.0	76.0					1																	39889745		2203	4300	6503	SO:0001583	missense	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39889745C>T	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.16210C>T	1.37:g.39889745C>T	ENSP00000362006:p.Leu5404Phe		Somatic				MACF1_ENST00000539005.1_Missense_Mutation_p.L3316F|MACF1_ENST00000289893.4_Missense_Mutation_p.L3839F|MACF1_ENST00000545844.1_Missense_Mutation_p.L3337F|MACF1_ENST00000567887.1_Missense_Mutation_p.L5436F|MACF1_ENST00000372915.3_Missense_Mutation_p.L5404F|MACF1_ENST00000317713.7_Missense_Mutation_p.L3337F|MACF1_ENST00000361689.2_Missense_Mutation_p.L3337F	p.L5399F			WXS	Illumina GAIIx	Phase_I	Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		61	16972	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	5404					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37	c.16195C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.2|26.2	4.710728|4.710728	0.89112|0.89112	.|.	.|.	ENSG00000127603|ENSG00000127603	ENST00000372925|ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000289893;ENST00000482035	.|T;T;T;T;T;T;T	.|0.59364	.|0.27;0.27;0.27;0.27;0.27;0.27;0.27	5.48|5.48	4.51|4.51	0.55191|0.55191	.|.	.|0.130292	.|0.34986	.|N	.|0.003528	T|T	0.61148|0.61148	0.2324|0.2324	N|N	0.25485|0.25485	0.75|0.75	0.80722|0.80722	D|D	1|1	.|D;P;P	.|0.71674	.|0.998;0.935;0.887	.|D;P;P	.|0.67900	.|0.954;0.738;0.66	T|T	0.63985|0.63985	-0.6513|-0.6513	5|10	.|0.72032	.|D	.|0.01	.|.	11.6427|11.6427	0.51242|0.51242	0.3506:0.6494:0.0:0.0|0.3506:0.6494:0.0:0.0	.|.	.|5404;3337;3281	.|Q9UPN3;F8W8Q1;Q9UPN3-3	.|MACF1_HUMAN;.;.	V|F	2449|3337;5404;3337;3337;3316;3839;153	.|ENSP00000439537:L3337F;ENSP00000362006:L5404F;ENSP00000354573:L3337F;ENSP00000313438:L3337F;ENSP00000444364:L3316F;ENSP00000289893:L3839F;ENSP00000433104:L153F	.|ENSP00000289893:L3839F	A|L	+|+	2|1	0|0	MACF1|MACF1	39662332|39662332	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	5.347000|5.347000	0.65998|0.65998	2.569000|2.569000	0.86673|0.86673	0.655000|0.655000	0.94253|0.94253	GCT|CTT		0.443	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		6	227	0	0	0	1	0	6	227				
MACF1	23499	broad.mit.edu	37	1	39916725	39916725	+	Splice_Site	SNP	C	C	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr1:39916725C>T	ENST00000372915.3	+	84	20044	c.19957C>T	c.(19957-19959)Cag>Tag	p.Q6653*	MACF1_ENST00000289893.4_Splice_Site_p.Q5197*|MACF1_ENST00000545844.1_Splice_Site_p.Q4695*|MACF1_ENST00000317713.7_Splice_Site_p.Q4695*|MACF1_ENST00000564288.1_Splice_Site_p.Q6754*|MACF1_ENST00000567887.1_Splice_Site_p.Q6791*|MACF1_ENST00000539005.1_Splice_Site_p.Q4565*|MACF1_ENST00000361689.2_Splice_Site_p.Q4695*			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	6653					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			ATTTCTCAGGCAGCACAAGTT	0.473																																						ENST00000564288.1																			0				breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203						c.e85-1		microtubule-actin crosslinking factor 1							162.0	156.0	158.0					1																	39916725		2203	4300	6503	SO:0001630	splice_region_variant	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39916725C>T	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.19956-1C>T	1.37:g.39916725C>T			Somatic				MACF1_ENST00000539005.1_Splice_Site_p.Q4565_splice|MACF1_ENST00000289893.4_Splice_Site_p.Q5197_splice|MACF1_ENST00000545844.1_Splice_Site_p.Q4695_splice|MACF1_ENST00000567887.1_Splice_Site_p.Q6791_splice|MACF1_ENST00000372915.3_Splice_Site_p.Q6653_splice|MACF1_ENST00000317713.7_Splice_Site_p.Q4695_splice|MACF1_ENST00000361689.2_Splice_Site_p.Q4695_splice	p.Q6754_splice			WXS	Illumina GAIIx	Phase_I	Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		85	21037	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	6761					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Splice_Site	SNP	ENST00000372915.3	37	c.20258_splice		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	53|53	20.177866|20.177866	0.99928|0.99928	.|.	.|.	ENSG00000127603|ENSG00000127603	ENST00000372925|ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000289893	.|.	.|.	.|.	6.16|6.16	6.16|6.16	0.99307|0.99307	.|.	.|0.000000	.|0.64402	.|D	.|0.000014	D|.	0.82421|.	0.5033|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.82744|.	-0.0306|.	4|.	.|0.87932	.|D	.|0	.|.	20.8598|20.8598	0.99761|0.99761	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	V|X	3698|4695;6653;4695;4695;4565;5197	.|.	.|ENSP00000289893:Q5197X	A|Q	+|+	2|1	0|0	MACF1|MACF1	39689312|39689312	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	7.782000|7.782000	0.85680|0.85680	2.937000|2.937000	0.99478|0.99478	0.650000|0.650000	0.86243|0.86243	GCA|CAG		0.473	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044	Nonsense_Mutation	4	207	0	0	0	1	0	4	207				
TUBB8P7	197331	broad.mit.edu	37	16	90161926	90161926	+	RNA	SNP	T	T	C	rs8061283	byFrequency	TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr16:90161926T>C	ENST00000564451.1	+	0	1279				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7									p.I221T(3)									CCCACACCCATCTATGGTGAC	0.527													.|||	3140	0.626997	0.9395	0.5	5008	,	,		11330	0.7847		0.4702	False		,,,				2504	0.2935					ENST00000567960.1																			3	Substitution - Missense(3)	p.I221T(3)	kidney(2)|prostate(1)																																																197331							g.chr16:90161926T>C			16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90161926T>C			Somatic				TUBB8P7_ENST00000564451.1_RNA				WXS	Illumina GAIIx	Phase_I					0	662	+									RNA	SNP	ENST00000564451.1	37																																																																																						0.527	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	NG_002334		3	22	0	0	0	1	0	3	22				
PPEF2	5470	broad.mit.edu	37	4	76817422	76817422	+	Splice_Site	SNP	A	A	G			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr4:76817422A>G	ENST00000286719.7	-	2	412		c.e2+1		PPEF2_ENST00000510607.1_Splice_Site	NM_006239.2	NP_006230.2	O14830	PPE2_HUMAN	protein phosphatase, EF-hand calcium binding domain 2						detection of stimulus involved in sensory perception (GO:0050906)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|protein dephosphorylation (GO:0006470)|regulation of JUN kinase activity (GO:0043506)|regulation of MAP kinase activity (GO:0043405)|visual perception (GO:0007601)	cilium (GO:0005929)|cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|Hsp70 protein binding (GO:0030544)|Hsp90 protein binding (GO:0051879)|iron ion binding (GO:0005506)|manganese ion binding (GO:0030145)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein serine/threonine phosphatase activity (GO:0004722)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			GGAAACACGTACCTCTCTCTG	0.507											OREG0016229	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									NSCLC(105;1359 1603 15961 44567 47947)	ENST00000286719.7																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						c.e2+1		protein phosphatase, EF-hand calcium binding domain 2							209.0	179.0	189.0					4																	76817422		2203	4300	6503	SO:0001630	splice_region_variant	5470				detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception	cytoplasm|photoreceptor inner segment|photoreceptor outer segment	calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity	g.chr4:76817422A>G	AF023456	CCDS34013.1	4q21.1	2013-01-10			ENSG00000156194	ENSG00000156194		"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"", ""EF-hand domain containing"""	9244	protein-coding gene	gene with protein product	"""protein phosphatase 7, catalytic subunit, beta isozyme"""	602256				9326663, 12051765	Standard	NM_006239		Approved	PPP7CB	uc003hix.3	O14830	OTTHUMG00000160915	ENST00000286719.7:c.55+1T>C	4.37:g.76817422A>G			Somatic	OREG0016229	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1171	PPEF2_ENST00000510607.1_Splice_Site		NM_006239.2	NP_006230.2	WXS	Illumina GAIIx	Phase_I	O14830	PPE2_HUMAN	Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)		2	412	-								O14831	Splice_Site	SNP	ENST00000286719.7	37		CCDS34013.1	.	.	.	.	.	.	.	.	.	.	A	10.42	1.344440	0.24339	.	.	ENSG00000156194	ENST00000286719;ENST00000337500	.	.	.	5.37	5.37	0.77165	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.0565	0.53538	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PPEF2	77036446	0.996000	0.38824	0.983000	0.44433	0.034000	0.12701	4.302000	0.59092	2.155000	0.67459	0.460000	0.39030	.		0.507	PPEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362929.1	NM_006239	Intron	3	356	0	0	0	1	0	3	356				
FAM160A2	84067	broad.mit.edu	37	11	6245420	6245420	+	Missense_Mutation	SNP	A	A	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr11:6245420A>T	ENST00000449352.2	-	3	460	c.197T>A	c.(196-198)cTc>cAc	p.L66H	FAM160A2_ENST00000524416.1_Missense_Mutation_p.L66H|FAM160A2_ENST00000265978.4_Missense_Mutation_p.L66H			Q8N612	F16A2_HUMAN	family with sequence similarity 160, member A2	66					early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|protein transport (GO:0015031)	FHF complex (GO:0070695)				NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CACAGCACTGAGATCGTCTGC	0.587																																						ENST00000265978.4																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(196-198)cTc>cAc		family with sequence similarity 160, member A2							45.0	45.0	45.0					11																	6245420		2201	4296	6497	SO:0001583	missense	84067				early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|protein transport	FHF complex	protein binding	g.chr11:6245420A>T		CCDS7760.1, CCDS44530.1	11p15.4	2008-06-05	2008-06-05	2008-06-05	ENSG00000051009	ENSG00000051009			25378	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 56"""	C11orf56		11230166, 11214970	Standard	NM_001098794		Approved	FLJ22665, KIAA1759, DKFZP566M1046	uc001mck.4	Q8N612	OTTHUMG00000133379	ENST00000449352.2:c.197T>A	11.37:g.6245420A>T	ENSP00000416918:p.Leu66His		Somatic				FAM160A2_ENST00000449352.2_Missense_Mutation_p.L66H|FAM160A2_ENST00000524416.1_Missense_Mutation_p.L66H	p.L66H	NM_001098794.1|NM_032127.3	NP_001092264.1|NP_115503.2	WXS	Illumina GAIIx	Phase_I	Q8N612	F16A2_HUMAN			3	555	-			66					Q9C0A4|Q9H0N3|Q9H624	Missense_Mutation	SNP	ENST00000449352.2	37	c.197T>A	CCDS44530.1	.	.	.	.	.	.	.	.	.	.	A	17.94	3.512484	0.64522	.	.	ENSG00000051009	ENST00000449352;ENST00000265978;ENST00000524416	T;T;T	0.17528	2.91;2.9;2.27	4.85	4.85	0.62838	.	0.164028	0.41194	D	0.000927	T	0.35537	0.0935	L	0.54323	1.7	0.43114	D	0.994823	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.91635	0.959;0.959;0.999	T	0.04255	-1.0965	10	0.40728	T	0.16	-8.2028	13.4034	0.60896	1.0:0.0:0.0:0.0	.	66;66;66	E9PJK5;Q8N612;Q8N612-2	.;F16A2_HUMAN;.	H	66	ENSP00000416918:L66H;ENSP00000265978:L66H;ENSP00000431773:L66H	ENSP00000265978:L66H	L	-	2	0	FAM160A2	6201996	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.528000	0.35985	2.051000	0.60960	0.533000	0.62120	CTC		0.587	FAM160A2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383759.1	NM_032127		4	302	0	0	0	1	0	4	302				
PLA2R1	22925	broad.mit.edu	37	2	160885464	160885464	+	Silent	SNP	G	G	A			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr2:160885464G>A	ENST00000283243.7	-	5	1058	c.852C>T	c.(850-852)agC>agT	p.S284S	PLA2R1_ENST00000392771.1_Silent_p.S284S	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	284	C-type lectin 1. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cytokine production (GO:0001816)|negative regulation of arachidonic acid secretion (GO:1900139)|negative regulation of phospholipase A2 activity (GO:1900138)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of arachidonic acid secretion (GO:0090238)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|reactive oxygen species metabolic process (GO:0072593)|receptor-mediated endocytosis (GO:0006898)|replicative senescence (GO:0090399)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	carbohydrate binding (GO:0030246)|phospholipase binding (GO:0043274)|receptor activity (GO:0004872)		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						CTGTTTTACTGCTCATGTGCT	0.453																																						ENST00000283243.7																		PLA2R1/RBMS1(2)	0				central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						c.(850-852)agC>agT		phospholipase A2 receptor 1, 180kDa							88.0	73.0	78.0					2																	160885464		2203	4300	6503	SO:0001819	synonymous_variant	22925				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding	g.chr2:160885464G>A	U17033	CCDS33309.1, CCDS42767.1	2q23-q24	2011-08-30	2002-08-29		ENSG00000153246	ENSG00000153246		"""C-type lectin domain containing"""	9042	protein-coding gene	gene with protein product		604939	"""phospholipase A2 receptor 1, 180kD"""			7721806, 7925459	Standard	NM_007366		Approved	PLA2G1R, PLA2IR, PLA2-R, CLEC13C	uc002ube.2	Q13018	OTTHUMG00000154087	ENST00000283243.7:c.852C>T	2.37:g.160885464G>A			Somatic				PLA2R1_ENST00000392771.1_Silent_p.S284S	p.S284S	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	WXS	Illumina GAIIx	Phase_I	Q13018	PLA2R_HUMAN			5	1058	-			284			C-type lectin 1.		B2RTU9|D3DPB1|Q13019|Q15095|Q53R45|Q53RR7	Silent	SNP	ENST00000283243.7	37	c.852C>T	CCDS33309.1																																																																																				0.453	PLA2R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333820.1			3	33	0	0	0	1	0	3	33				
RAB43	339122	broad.mit.edu	37	3	128840237	128840237	+	Silent	SNP	C	C	A			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr3:128840237C>A	ENST00000315150.5	-	1	396	c.96G>T	c.(94-96)acG>acT	p.T32T	RP11-434H6.6_ENST00000608909.1_RNA|RAB43_ENST00000393307.1_Silent_p.T32T|RAB43_ENST00000393308.1_Silent_p.T32T|ISY1-RAB43_ENST00000418265.1_Intron|RAB43_ENST00000393304.1_Silent_p.T32T|RAB43_ENST00000393305.1_Silent_p.T32T|RAB43_ENST00000476465.1_Silent_p.T32T	NM_001204888.1|NM_198490.2	NP_001191817.1|NP_940892.1	Q86YS6	RAB43_HUMAN	RAB43, member RAS oncogene family	32					Golgi organization (GO:0007030)|GTP catabolic process (GO:0006184)|phagosome maturation (GO:0090382)|protein transport (GO:0015031)|retrograde transport, plasma membrane to Golgi (GO:0035526)|small GTPase mediated signal transduction (GO:0007264)|virion assembly (GO:0019068)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|phagocytic vesicle (GO:0045335)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			kidney(2)|liver(1)|lung(2)|skin(1)	6						GCACCACGCACGTCTTGCCCA	0.667																																						ENST00000315150.5																			0				kidney(2)|liver(1)|lung(2)|skin(1)	6						c.(94-96)acG>acT		RAB43, member RAS oncogene family							26.0	25.0	25.0					3																	128840237		2203	4300	6503	SO:0001819	synonymous_variant	339122				protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding	g.chr3:128840237C>A	AY166852	CCDS33850.1, CCDS56275.1	3q21.3	2010-03-30			ENSG00000172780	ENSG00000172780		"""RAB, member RAS oncogene"""	19983	protein-coding gene	gene with protein product						15018353	Standard	NM_198490		Approved	RAB41, RAB11B, ISY1	uc021xdp.1	Q86YS6	OTTHUMG00000137364	ENST00000315150.5:c.96G>T	3.37:g.128840237C>A			Somatic				RAB43_ENST00000393307.1_Silent_p.T32T|RAB43_ENST00000393308.1_Silent_p.T32T|RAB43_ENST00000476465.1_Silent_p.T32T|ISY1-RAB43_ENST00000418265.1_Intron|RAB43_ENST00000393305.1_Silent_p.T32T|RAB43_ENST00000393304.1_Silent_p.T32T	p.T32T	NM_001204888.1|NM_198490.2	NP_001191817.1|NP_940892.1	WXS	Illumina GAIIx	Phase_I	Q86YS6	RAB43_HUMAN			1	396	-			32					A8K4P9|E9PBQ0	Silent	SNP	ENST00000315150.5	37	c.96G>T	CCDS33850.1																																																																																				0.667	RAB43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000267849.1	XM_290714		3	10	1	0	0.014758	1	0.0152851	3	10				
ARHGAP9	64333	broad.mit.edu	37	12	57866395	57866395	+	Missense_Mutation	SNP	G	G	A			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr12:57866395G>A	ENST00000356411.2	-	18	2296	c.2158C>T	c.(2158-2160)Cca>Tca	p.P720S	ARHGAP9_ENST00000393797.2_Missense_Mutation_p.P791S|ARHGAP9_ENST00000393791.3_Missense_Mutation_p.P701S|ARHGAP9_ENST00000424809.2_3'UTR|ARHGAP9_ENST00000430041.2_Missense_Mutation_p.P517S|ARHGAP9_ENST00000550288.1_3'UTR			Q9BRR9	RHG09_HUMAN	Rho GTPase activating protein 9	720	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)			endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)	30			GBM - Glioblastoma multiforme(3;3.37e-34)			TCCTGCTCTGGCCGAAACAGG	0.557																																						ENST00000393797.2																			0				endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)	30						c.(2371-2373)Cca>Tca		Rho GTPase activating protein 9							93.0	75.0	81.0					12																	57866395		2203	4300	6503	SO:0001583	missense	64333				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	g.chr12:57866395G>A	AB051853	CCDS8941.2, CCDS44928.1, CCDS44929.1	12q13.3	2013-01-10			ENSG00000123329	ENSG00000123329		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	14130	protein-coding gene	gene with protein product		610576				11396949	Standard	NM_032496		Approved	MGC1295, 10C	uc001soc.3	Q9BRR9	OTTHUMG00000150147	ENST00000356411.2:c.2158C>T	12.37:g.57866395G>A	ENSP00000348782:p.Pro720Ser		Somatic				ARHGAP9_ENST00000550288.1_3'UTR|ARHGAP9_ENST00000424809.2_3'UTR|ARHGAP9_ENST00000356411.2_Missense_Mutation_p.P720S|ARHGAP9_ENST00000393791.3_Missense_Mutation_p.P701S|ARHGAP9_ENST00000430041.2_Missense_Mutation_p.P517S	p.P791S			WXS	Illumina GAIIx	Phase_I	Q9BRR9	RHG09_HUMAN	GBM - Glioblastoma multiforme(3;3.37e-34)		21	2563	-			720					B4DVI3|E9PDX9|Q8NAF3|Q8TCJ3|Q8WYR0|Q96EZ2|Q96S74	Missense_Mutation	SNP	ENST00000356411.2	37	c.2371C>T		.	.	.	.	.	.	.	.	.	.	G	26.4	4.732529	0.89482	.	.	ENSG00000123329	ENST00000393791;ENST00000356411;ENST00000393797;ENST00000340423;ENST00000430041	T;T;T;T	0.18338	2.22;2.22;2.22;2.22	4.74	4.74	0.60224	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.31327	0.0793	L	0.32530	0.975	0.54753	D	0.999985	D;D;D	0.89917	1.0;1.0;0.975	D;D;D	0.91635	0.999;0.988;0.951	T	0.04216	-1.0968	10	0.72032	D	0.01	.	15.0536	0.71894	0.0:0.0:1.0:0.0	.	720;701;517	Q9BRR9;Q9BRR9-2;B4DVI3	RHG09_HUMAN;.;.	S	701;720;791;743;517	ENSP00000377380:P701S;ENSP00000348782:P720S;ENSP00000377386:P791S;ENSP00000397950:P517S	ENSP00000344852:P743S	P	-	1	0	ARHGAP9	56152662	1.000000	0.71417	0.922000	0.36590	0.978000	0.69477	6.607000	0.74163	2.363000	0.80096	0.650000	0.86243	CCA		0.557	ARHGAP9-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_032496		4	120	0	0	0	1	0	4	120				
BCORL1	63035	broad.mit.edu	37	X	129189922	129189922	+	Silent	SNP	C	C	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chrX:129189922C>T	ENST00000218147.7	+	13	5144	c.4947C>T	c.(4945-4947)acC>acT	p.T1649T	BCORL1_ENST00000540052.1_Silent_p.T1649T|BCORL1_ENST00000359304.2_Silent_p.T1519T|BCORL1_ENST00000303743.5_Silent_p.T1723T			Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	1649					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						TTGAAATCACCACCATGCCCA	0.592																																						ENST00000540052.1																			0				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						c.(4945-4947)acC>acT		BCL6 corepressor-like 1							115.0	113.0	114.0					X																	129189922		2203	4300	6503	SO:0001819	synonymous_variant	63035				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chrX:129189922C>T	AL136450	CCDS14616.1	Xq25-q26.1	2014-09-17	2010-06-10		ENSG00000085185	ENSG00000085185		"""Ankyrin repeat domain containing"""	25657	protein-coding gene	gene with protein product		300688	"""chromosome X open reading frame 10"", ""BCL6 co-repressor-like 1"""	CXorf10			Standard	NM_021946		Approved	FLJ11362	uc022cdu.1	Q5H9F3	OTTHUMG00000022379	ENST00000218147.7:c.4947C>T	X.37:g.129189922C>T			Somatic				BCORL1_ENST00000303743.5_Silent_p.T1723T|BCORL1_ENST00000218147.7_Silent_p.T1649T|BCORL1_ENST00000359304.2_Silent_p.T1519T	p.T1649T	NM_021946.4	NP_068765.3	WXS	Illumina GAIIx	Phase_I	Q5H9F3	BCORL_HUMAN			12	4991	+			1649					B5MDQ8|Q5H9F2|Q5H9F4|Q6ZVE0|Q8TEN3|Q9Y528	Silent	SNP	ENST00000218147.7	37	c.4947C>T	CCDS14616.1																																																																																				0.592	BCORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058223.1	NM_021946		4	295	0	0	0	1	0	4	295				
MNDA	4332	broad.mit.edu	37	1	158815659	158815659	+	Missense_Mutation	SNP	T	T	C	rs374060185		TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr1:158815659T>C	ENST00000368141.4	+	5	1114	c.853T>C	c.(853-855)Tct>Cct	p.S285P		NM_002432.1	NP_002423.1	P41218	MNDA_HUMAN	myeloid cell nuclear differentiation antigen	285	HIN-200. {ECO:0000255|PROSITE- ProRule:PRU00106}.				B cell receptor signaling pathway (GO:0050853)|cellular defense response (GO:0006968)|cellular response to DNA damage stimulus (GO:0006974)|negative regulation of B cell proliferation (GO:0030889)|positive regulation of apoptotic process (GO:0043065)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	all_hematologic(112;0.0378)					GGAAGCATCATCTGTGTCTGA	0.348																																						ENST00000368141.4																			0				NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65						c.(853-855)Tct>Cct		myeloid cell nuclear differentiation antigen		T	PRO/SER	0,4406		0,0,2203	73.0	76.0	75.0		853	-1.5	0.0	1		75	1,8599	1.2+/-3.3	0,1,4299	no	missense	MNDA	NM_002432.1	74	0,1,6502	CC,CT,TT		0.0116,0.0,0.0077	probably-damaging	285/408	158815659	1,13005	2203	4300	6503	SO:0001583	missense	4332				B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	g.chr1:158815659T>C	BC032319	CCDS1177.1	1q22	2008-02-05			ENSG00000163563	ENSG00000163563			7183	protein-coding gene	gene with protein product		159553				1644857, 7512843	Standard	NM_002432		Approved	PYHIN3	uc001fsz.1	P41218	OTTHUMG00000022776	ENST00000368141.4:c.853T>C	1.37:g.158815659T>C	ENSP00000357123:p.Ser285Pro		Somatic					p.S285P	NM_002432.1	NP_002423.1	WXS	Illumina GAIIx	Phase_I	P41218	MNDA_HUMAN			5	1114	+	all_hematologic(112;0.0378)		285			HIN-200.			Missense_Mutation	SNP	ENST00000368141.4	37	c.853T>C	CCDS1177.1	.	.	.	.	.	.	.	.	.	.	T	16.06	3.016095	0.54468	0.0	1.16E-4	ENSG00000163563	ENST00000368141	T	0.15952	2.38	4.28	-1.55	0.08558	HIN-200/IF120x (2);Nucleic acid-binding, OB-fold (1);	1.640470	0.03858	N	0.273478	T	0.18759	0.0450	M	0.73217	2.22	0.09310	N	1	D	0.76494	0.999	D	0.75020	0.985	T	0.06427	-1.0827	10	0.59425	D	0.04	-0.9067	1.6694	0.02808	0.1633:0.0984:0.3364:0.4018	.	285	P41218	MNDA_HUMAN	P	285	ENSP00000357123:S285P	ENSP00000357123:S285P	S	+	1	0	MNDA	157082283	0.000000	0.05858	0.000000	0.03702	0.353000	0.29299	-0.834000	0.04391	-0.056000	0.13221	0.533000	0.62120	TCT		0.348	MNDA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059069.1	NM_002432		3	100	0	0	0	1	0	3	100				
TMX4	56255	broad.mit.edu	37	20	7982163	7982163	+	Silent	SNP	G	G	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr20:7982163G>T	ENST00000246024.2	-	3	533	c.318C>A	c.(316-318)acC>acA	p.T106T	TMX4_ENST00000530935.1_5'UTR	NM_021156.2	NP_066979.2	Q9H1E5	TMX4_HUMAN	thioredoxin-related transmembrane protein 4	106	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell redox homeostasis (GO:0045454)|oxidation-reduction process (GO:0055114)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein disulfide isomerase activity (GO:0003756)			endometrium(3)|large_intestine(2)|lung(11)|skin(1)	17						CTGGGAGAGTGGTGACAAAGA	0.343																																						ENST00000246024.2																			0				endometrium(3)|large_intestine(2)|lung(11)|skin(1)	17						c.(316-318)acC>acA		thioredoxin-related transmembrane protein 4							63.0	60.0	61.0					20																	7982163		2203	4300	6503	SO:0001819	synonymous_variant	56255				cell redox homeostasis|electron transport chain|transport	integral to membrane		g.chr20:7982163G>T		CCDS13101.1	20p12	2011-10-19	2009-02-23	2009-02-23	ENSG00000125827	ENSG00000125827		"""Protein disulfide isomerases"""	25237	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 14"""		"""thioredoxin domain containing 13"""	TXNDC13			Standard	NM_021156		Approved	DJ971N18.2, KIAA1162, PDIA14	uc002wmx.1	Q9H1E5	OTTHUMG00000031843	ENST00000246024.2:c.318C>A	20.37:g.7982163G>T			Somatic				TMX4_ENST00000530935.1_5'UTR	p.T106T	NM_021156.2	NP_066979.2	WXS	Illumina GAIIx	Phase_I	Q9H1E5	TMX4_HUMAN			3	533	-			106			Thioredoxin.		Q8N4P7|Q8NCC1|Q9UJA1|Q9ULQ8	Silent	SNP	ENST00000246024.2	37	c.318C>A	CCDS13101.1																																																																																				0.343	TMX4-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000077928.2	NM_021156		4	12	1	0	0.00116845	1	0.00123969	4	12				
PUS7L	83448	broad.mit.edu	37	12	44148483	44148483	+	Missense_Mutation	SNP	A	A	G			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr12:44148483A>G	ENST00000416848.2	-	2	1054	c.566T>C	c.(565-567)gTa>gCa	p.V189A	PUS7L_ENST00000553166.1_Missense_Mutation_p.V189A|PUS7L_ENST00000344862.5_Missense_Mutation_p.V189A|PUS7L_ENST00000431332.3_Intron|PUS7L_ENST00000551923.1_Missense_Mutation_p.V189A	NM_001098615.1|NM_001271826.1	NP_001092085.1|NP_001258755.1	Q9H0K6	PUS7L_HUMAN	pseudouridylate synthase 7 homolog (S. cerevisiae)-like	189					pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033)		pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)			NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(15)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	all_cancers(12;0.00027)	Lung NSC(34;0.114)|all_lung(34;0.24)		GBM - Glioblastoma multiforme(48;0.0402)		GTTTTTTCCTACAGTTACTAA	0.338																																						ENST00000416848.2																			0				NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(15)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(565-567)gTa>gCa		pseudouridylate synthase 7 homolog (S. cerevisiae)-like							71.0	71.0	71.0					12																	44148483		2203	4299	6502	SO:0001583	missense	83448				pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding	g.chr12:44148483A>G	BX647494	CCDS8743.1, CCDS61104.1	12q12	2006-02-07				ENSG00000129317			25276	protein-coding gene	gene with protein product						11230166	Standard	NM_001098615		Approved	DKFZP434G1415	uc001rnr.5	Q9H0K6	OTTHUMG00000169423	ENST00000416848.2:c.566T>C	12.37:g.44148483A>G	ENSP00000415899:p.Val189Ala		Somatic				PUS7L_ENST00000344862.5_Missense_Mutation_p.V189A|PUS7L_ENST00000553166.1_Missense_Mutation_p.V189A|PUS7L_ENST00000431332.3_Intron|PUS7L_ENST00000551923.1_Missense_Mutation_p.V189A	p.V189A	NM_001098615.1|NM_001271826.1	NP_001092085.1|NP_001258755.1	WXS	Illumina GAIIx	Phase_I	Q9H0K6	PUS7L_HUMAN		GBM - Glioblastoma multiforme(48;0.0402)	2	1054	-	all_cancers(12;0.00027)	Lung NSC(34;0.114)|all_lung(34;0.24)	189					B3KUJ1|Q05CU0|Q6AHZ3|Q6NUP2	Missense_Mutation	SNP	ENST00000416848.2	37	c.566T>C	CCDS8743.1	.	.	.	.	.	.	.	.	.	.	A	16.31	3.088491	0.55968	.	.	ENSG00000129317	ENST00000416848;ENST00000344862;ENST00000551923;ENST00000553166	T;T;T;T	0.25912	1.85;1.85;1.85;1.77	5.26	2.85	0.33270	Pseudouridine synthase, catalytic domain (1);	0.570195	0.19252	N	0.118891	T	0.24586	0.0596	M	0.65975	2.015	0.80722	D	1	B	0.12630	0.006	B	0.15052	0.012	T	0.04946	-1.0916	10	0.15066	T	0.55	-7.0839	10.0987	0.42491	0.8601:0.0:0.1399:0.0	.	189	Q9H0K6	PUS7L_HUMAN	A	189	ENSP00000415899:V189A;ENSP00000343081:V189A;ENSP00000447706:V189A;ENSP00000446865:V189A	ENSP00000343081:V189A	V	-	2	0	PUS7L	42434750	1.000000	0.71417	0.990000	0.47175	0.980000	0.70556	6.800000	0.75165	0.500000	0.27991	0.482000	0.46254	GTA		0.338	PUS7L-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403931.1	NM_031292		3	253	0	0	0	1	0	3	253				
NUP205	23165	broad.mit.edu	37	7	135286243	135286243	+	Missense_Mutation	SNP	G	G	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr7:135286243G>T	ENST00000285968.6	+	17	2526	c.2500G>T	c.(2500-2502)Gcc>Tcc	p.A834S		NM_015135.2	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	834					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						TGACACCTATGCCCCCTTTCC	0.398																																						ENST00000285968.6																			0				breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						c.(2500-2502)Gcc>Tcc		nucleoporin 205kDa							176.0	169.0	172.0					7																	135286243		2203	4300	6503	SO:0001583	missense	23165				carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	g.chr7:135286243G>T	D86978	CCDS34759.1	7q31.32	2007-03-26	2004-01-06	2004-01-07	ENSG00000155561	ENSG00000155561			18658	protein-coding gene	gene with protein product		614352	"""chromosome 7 open reading frame 14"""	C7orf14		9039502, 9348540	Standard	NM_015135		Approved	KIAA0225	uc003vsw.3	Q92621	OTTHUMG00000155497	ENST00000285968.6:c.2500G>T	7.37:g.135286243G>T	ENSP00000285968:p.Ala834Ser		Somatic					p.A834S	NM_015135.2	NP_055950.1	WXS	Illumina GAIIx	Phase_I	Q92621	NU205_HUMAN			17	2526	+			834					A6H8X3|Q86YC1	Missense_Mutation	SNP	ENST00000285968.6	37	c.2500G>T	CCDS34759.1	.	.	.	.	.	.	.	.	.	.	G	12.05	1.821344	0.32237	.	.	ENSG00000155561	ENST00000285968	T	0.28666	1.6	5.76	5.76	0.90799	.	0.046469	0.85682	D	0.000000	T	0.22322	0.0538	N	0.16743	0.435	0.80722	D	1	B	0.17667	0.023	B	0.17433	0.018	T	0.08764	-1.0706	10	0.13108	T	0.6	-32.9722	19.9616	0.97254	0.0:0.0:1.0:0.0	.	834	Q92621	NU205_HUMAN	S	834	ENSP00000285968:A834S	ENSP00000285968:A834S	A	+	1	0	NUP205	134936783	1.000000	0.71417	0.996000	0.52242	0.928000	0.56348	6.502000	0.73695	2.724000	0.93272	0.561000	0.74099	GCC		0.398	NUP205-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340358.1			17	323	1	0	5.03518e-11	1	5.76396e-11	17	323				
CYP46A1	10858	broad.mit.edu	37	14	100165849	100165849	+	Missense_Mutation	SNP	G	G	A			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr14:100165849G>A	ENST00000261835.3	+	4	433	c.329G>A	c.(328-330)cGt>cAt	p.R110H	CYP46A1_ENST00000423126.2_Missense_Mutation_p.R13H	NM_006668.1	NP_006659.1	Q9Y6A2	CP46A_HUMAN	cytochrome P450, family 46, subfamily A, polypeptide 1	110					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cholesterol catabolic process (GO:0006707)|nervous system development (GO:0007399)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	cholesterol 24-hydroxylase activity (GO:0033781)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid hydroxylase activity (GO:0008395)			breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)	25		Melanoma(154;0.0866)|all_epithelial(191;0.179)				AAGATGTACCGTGCGCTCCAG	0.537																																						ENST00000261835.3																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)	25						c.(328-330)cGt>cAt		cytochrome P450, family 46, subfamily A, polypeptide 1							271.0	258.0	262.0					14																	100165849		2203	4300	6503	SO:0001583	missense	10858				bile acid biosynthetic process|cholesterol catabolic process|nervous system development|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol 24-hydroxylase activity|electron carrier activity|heme binding|steroid hydroxylase activity	g.chr14:100165849G>A	AF094480	CCDS9954.1	14q32.2	2013-05-03	2003-02-14	2003-02-28	ENSG00000036530	ENSG00000036530		"""Cytochrome P450s"""	2641	protein-coding gene	gene with protein product		604087	"""cytochrome P450, subfamily 46 (cholesterol 24-hydroxylase)"""	CYP46		10377398	Standard	NM_006668		Approved		uc001ygo.3	Q9Y6A2	OTTHUMG00000171510	ENST00000261835.3:c.329G>A	14.37:g.100165849G>A	ENSP00000261835:p.Arg110His		Somatic				CYP46A1_ENST00000423126.2_Missense_Mutation_p.R13H	p.R110H	NM_006668.1	NP_006659.1	WXS	Illumina GAIIx	Phase_I	Q9Y6A2	CP46A_HUMAN			4	433	+		Melanoma(154;0.0866)|all_epithelial(191;0.179)	110					B4DHP8|E7EQG9|Q8N2B0	Missense_Mutation	SNP	ENST00000261835.3	37	c.329G>A	CCDS9954.1	.	.	.	.	.	.	.	.	.	.	G	11.66	1.706003	0.30232	.	.	ENSG00000036530	ENST00000261835;ENST00000423126	T;D	0.82893	-0.4;-1.66	5.5	3.42	0.39159	.	0.633707	0.15897	N	0.239263	T	0.68952	0.3057	N	0.25485	0.75	0.20975	N	0.999817	B;B	0.09022	0.002;0.0	B;B	0.06405	0.002;0.0	T	0.55068	-0.8198	10	0.34782	T	0.22	.	4.7062	0.12851	0.1551:0.2271:0.6177:0.0	.	110;81	Q9Y6A2;Q59ER2	CP46A_HUMAN;.	H	110;13	ENSP00000261835:R110H;ENSP00000405779:R13H	ENSP00000261835:R110H	R	+	2	0	CYP46A1	99235602	0.959000	0.32827	0.963000	0.40424	0.933000	0.57130	2.455000	0.44988	1.302000	0.44855	0.643000	0.83706	CGT		0.537	CYP46A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413814.1			8	687	0	0	0	1	0	8	687				
KIF5A	3798	broad.mit.edu	37	12	57970616	57970616	+	Silent	SNP	C	C	T	rs374554951		TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr12:57970616C>T	ENST00000455537.2	+	20	2545	c.2271C>T	c.(2269-2271)caC>caT	p.H757H	KIF5A_ENST00000286452.5_Silent_p.H668H	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	757					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|protein localization (GO:0008104)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						GCGAAGAACACGAGAAGAGCA	0.488																																						ENST00000455537.2																			0				breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						c.(2269-2271)caC>caT		kinesin family member 5A							100.0	87.0	91.0					12																	57970616		2203	4300	6503	SO:0001819	synonymous_variant	3798				blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity	g.chr12:57970616C>T	U06698	CCDS8945.1	12q13.13	2011-07-15	2004-02-13			ENSG00000155980		"""Kinesins"""	6323	protein-coding gene	gene with protein product		602821	"""spastic paraplegia 10 (autosomal dominant)"""	SPG10		9858832, 10441583, 16489470	Standard	NM_004984		Approved	D12S1889, NKHC, MY050	uc001sor.1	Q12840	OTTHUMG00000170143	ENST00000455537.2:c.2271C>T	12.37:g.57970616C>T			Somatic				KIF5A_ENST00000286452.5_Silent_p.H668H	p.H757H	NM_004984.2	NP_004975.2	WXS	Illumina GAIIx	Phase_I	Q12840	KIF5A_HUMAN			20	2545	+			757					A6H8M5|Q4LE26	Silent	SNP	ENST00000455537.2	37	c.2271C>T	CCDS8945.1																																																																																				0.488	KIF5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407634.1	NM_004984		13	264	0	0	0	1	0	13	264				
SRRM2	23524	broad.mit.edu	37	16	2817632	2817632	+	Missense_Mutation	SNP	G	G	A	rs374840151		TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr16:2817632G>A	ENST00000301740.8	+	11	7652	c.7103G>A	c.(7102-7104)aGt>aAt	p.S2368N	AC092117.2_ENST00000581119.1_RNA|SRRM2_ENST00000574593.1_3'UTR	NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	2368	Ala-rich.|Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						AGCCTCACCAGTGCTAGGATG	0.627																																						ENST00000301740.8																			0				breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						c.(7102-7104)aGt>aAt		serine/arginine repetitive matrix 2		G	ASN/SER	2,4394	4.2+/-10.8	0,2,2196	75.0	79.0	78.0		7103	4.6	1.0	16		78	0,8600		0,0,4300	no	missense	SRRM2	NM_016333.3	46	0,2,6496	AA,AG,GG		0.0,0.0455,0.0154	possibly-damaging	2368/2753	2817632	2,12994	2198	4300	6498	SO:0001583	missense	23524					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding	g.chr16:2817632G>A	AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.7103G>A	16.37:g.2817632G>A	ENSP00000301740:p.Ser2368Asn		Somatic				SRRM2_ENST00000574593.1_3'UTR	p.S2368N	NM_016333.3	NP_057417.3	WXS	Illumina GAIIx	Phase_I	Q9UQ35	SRRM2_HUMAN			11	7652	+			2368			Ala-rich.|Ser-rich.		A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Missense_Mutation	SNP	ENST00000301740.8	37	c.7103G>A	CCDS32373.1	.	.	.	.	.	.	.	.	.	.	G	13.16	2.153191	0.38021	4.55E-4	0.0	ENSG00000167978	ENST00000301740;ENST00000544933	T	0.78481	-1.18	5.5	4.55	0.56014	.	0.257962	0.35179	N	0.003382	T	0.72630	0.3484	N	0.24115	0.695	0.25532	N	0.987268	D	0.53885	0.963	P	0.52598	0.703	T	0.65594	-0.6130	10	0.52906	T	0.07	-4.8965	10.3847	0.44132	0.0903:0.0:0.9097:0.0	.	2368	Q9UQ35	SRRM2_HUMAN	N	2368;1620	ENSP00000301740:S2368N	ENSP00000301740:S2368N	S	+	2	0	SRRM2	2757633	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.474000	0.53129	1.321000	0.45227	0.655000	0.94253	AGT		0.627	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436411.1			4	94	0	0	0	1	0	4	94				
FLG	2312	broad.mit.edu	37	1	152278999	152278999	+	Missense_Mutation	SNP	C	C	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr1:152278999C>T	ENST00000368799.1	-	3	8398	c.8363G>A	c.(8362-8364)gGa>gAa	p.G2788E	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2788	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCCCGGGTGTCCACGAATGGT	0.602									Ichthyosis																													ENST00000368799.1																			0				autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(8362-8364)gGa>gAa		filaggrin							349.0	467.0	427.0					1																	152278999		2198	4296	6494	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152278999C>T	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.8363G>A	1.37:g.152278999C>T	ENSP00000357789:p.Gly2788Glu		Somatic				FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	p.G2788E	NM_002016.1	NP_002007.1	WXS	Illumina GAIIx	Phase_I	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	8398	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2788			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.8363G>A	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	C	10.68	1.418437	0.25552	.	.	ENSG00000143631	ENST00000368799;ENST00000368796	T	0.07567	3.18	4.05	-0.318	0.12728	.	.	.	.	.	T	0.03263	0.0095	M	0.78637	2.42	0.09310	N	1	B	0.26081	0.141	B	0.23419	0.046	T	0.37731	-0.9693	9	0.37606	T	0.19	.	4.3104	0.10967	0.0:0.5225:0.1703:0.3072	.	2788	P20930	FILA_HUMAN	E	2788;50	ENSP00000357789:G2788E	ENSP00000357786:G50E	G	-	2	0	FLG	150545623	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.115000	0.10741	-0.149000	0.11215	0.306000	0.20318	GGA		0.602	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		7	221	0	0	0	1	0	7	221				
PTTG1	9232	broad.mit.edu	37	5	159851297	159851297	+	Silent	SNP	C	C	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr5:159851297C>T	ENST00000393964.1	+	3	733	c.330C>T	c.(328-330)gcC>gcT	p.A110A	PTTG1_ENST00000352433.5_Silent_p.A110A|PTTG1_ENST00000519287.1_3'UTR|PTTG1_ENST00000520452.1_Silent_p.A110A	NM_001282382.1	NP_001269311.1	O95997	PTTG1_HUMAN	pituitary tumor-transforming 1	110					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|chromosome organization (GO:0051276)|chromosome segregation (GO:0007059)|DNA repair (GO:0006281)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of endopeptidase activity (GO:0010951)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|large_intestine(1)|lung(4)	6	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	OV - Ovarian serous cystadenocarcinoma(192;0.00219)|Epithelial(171;0.00348)|all cancers(165;0.0104)		CAGATGATGCCTATCCAGAAA	0.383																																						ENST00000393964.1																			0				breast(1)|large_intestine(1)|lung(4)	6						c.(328-330)gcC>gcT		pituitary tumor-transforming 1							121.0	126.0	125.0					5																	159851297		2203	4300	6503	SO:0001819	synonymous_variant	9232				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|chromosome organization|chromosome segregation|DNA repair|mitosis|spermatogenesis|transcription from RNA polymerase II promoter	cytosol|nucleus	cysteine-type endopeptidase inhibitor activity|sequence-specific DNA binding transcription factor activity|SH3 domain binding	g.chr5:159851297C>T	AF062649	CCDS4353.1	5q35.1	2014-08-04			ENSG00000164611	ENSG00000164611			9690	protein-coding gene	gene with protein product	"""ESP1-associated protein 1"", ""tumor-transforming protein 1"""	604147		TUTR1		9811450, 9892021	Standard	NM_004219		Approved	PTTG, HPTTG, EAP1, securin	uc003lyj.3	O95997	OTTHUMG00000130328	ENST00000393964.1:c.330C>T	5.37:g.159851297C>T			Somatic				PTTG1_ENST00000352433.5_Silent_p.A110A|PTTG1_ENST00000519287.1_3'UTR|PTTG1_ENST00000520452.1_Silent_p.A110A	p.A110A			WXS	Illumina GAIIx	Phase_I	O95997	PTTG1_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	OV - Ovarian serous cystadenocarcinoma(192;0.00219)|Epithelial(171;0.00348)|all cancers(165;0.0104)	3	733	+	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	110						Silent	SNP	ENST00000393964.1	37	c.330C>T	CCDS4353.1																																																																																				0.383	PTTG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252677.1	NM_004219		12	596	0	0	0	1	0	12	596				
RUSC2	9853	broad.mit.edu	37	9	35547638	35547638	+	Missense_Mutation	SNP	C	C	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr9:35547638C>T	ENST00000455600.1	+	2	1689	c.1120C>T	c.(1120-1122)Cca>Tca	p.P374S		NM_001135999.1	NP_001129471	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	374						cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)	Rab GTPase binding (GO:0017137)			NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			TGAGCCGTGCCCAGCAGTGGC	0.547																																						ENST00000455600.1																			0				NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(1120-1122)Cca>Tca		RUN and SH3 domain containing 2							86.0	78.0	81.0					9																	35547638		2203	4300	6503	SO:0001583	missense	9853					cytosol		g.chr9:35547638C>T	AB002373	CCDS35008.1	9p13.2	2003-12-02			ENSG00000198853	ENSG00000198853			23625	protein-coding gene	gene with protein product		611053				9205841	Standard	NM_001135999		Approved	KIAA0375	uc003zww.3	Q8N2Y8	OTTHUMG00000019861	ENST00000455600.1:c.1120C>T	9.37:g.35547638C>T	ENSP00000393922:p.Pro374Ser		Somatic					p.P374S	NM_001135999.1	NP_001129471.1	WXS	Illumina GAIIx	Phase_I	Q8N2Y8	RUSC2_HUMAN	Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)		2	1689	+			374					A2RU62|A7E2A9|O15080|Q5W134|Q641Q6|Q6P1W7	Missense_Mutation	SNP	ENST00000455600.1	37	c.1120C>T	CCDS35008.1	.	.	.	.	.	.	.	.	.	.	C	8.394	0.840338	0.16891	.	.	ENSG00000198853	ENST00000361226;ENST00000455600;ENST00000543478	T;T	0.23754	1.89;1.89	5.48	5.48	0.80851	.	0.236264	0.38720	N	0.001594	T	0.18635	0.0447	N	0.24115	0.695	0.28466	N	0.915667	P	0.45126	0.851	B	0.39339	0.297	T	0.09530	-1.0670	10	0.46703	T	0.11	-8.0557	13.8919	0.63744	0.1621:0.8379:0.0:0.0	.	374	Q8N2Y8	RUSC2_HUMAN	S	374	ENSP00000355177:P374S;ENSP00000393922:P374S	ENSP00000355177:P374S	P	+	1	0	RUSC2	35537638	1.000000	0.71417	1.000000	0.80357	0.414000	0.31173	2.622000	0.46427	2.569000	0.86673	0.655000	0.94253	CCA		0.547	RUSC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052309.1	XM_048462		4	108	0	0	0	1	0	4	108				
SEMG1	6406	broad.mit.edu	37	20	43837052	43837052	+	Missense_Mutation	SNP	C	C	A	rs199672858	byFrequency	TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr20:43837052C>A	ENST00000372781.3	+	2	1171	c.1114C>A	c.(1114-1116)Cgc>Agc	p.R372S	SEMG1_ENST00000244069.6_Missense_Mutation_p.R312S	NM_003007.3	NP_002998.1	P04279	SEMG1_HUMAN	semenogelin I	372	2 X 60 AA tandem repeats, type 1.|Repeat-rich region. {ECO:0000250}.		R -> L (in dbSNP:rs2233887). {ECO:0000269|PubMed:14629036}.		insemination (GO:0007320)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|secretory granule (GO:0030141)	structural molecule activity (GO:0005198)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.0122)				TGTATCCCAACGCAGTATTTA	0.418																																						ENST00000372781.3																			0				cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	32						c.(1114-1116)Cgc>Agc		semenogelin I							77.0	71.0	73.0					20																	43837052		2203	4300	6503	SO:0001583	missense	6406							g.chr20:43837052C>A		CCDS13345.1	20q12-q13.2	2009-08-06			ENSG00000124233	ENSG00000124233			10742	protein-coding gene	gene with protein product	"""semen coagulating protein"", ""cancer/testis antigen 103"""	182140		SEMG		2912989, 15563730	Standard	NM_003007		Approved	CT103		P04279	OTTHUMG00000032565	ENST00000372781.3:c.1114C>A	20.37:g.43837052C>A	ENSP00000361867:p.Arg372Ser		Somatic				SEMG1_ENST00000244069.6_Missense_Mutation_p.R312S	p.R372S	NM_003007.3	NP_002998.1	WXS	Illumina GAIIx	Phase_I					2	1171	+		Myeloproliferative disorder(115;0.0122)						Q53ZV0|Q53ZV1|Q53ZV2|Q6X4I9|Q6Y809|Q6Y822|Q6Y823|Q86U64|Q96QM3	Missense_Mutation	SNP	ENST00000372781.3	37	c.1114C>A	CCDS13345.1	.	.	.	.	.	.	.	.	.	.	A	0.011	-1.712711	0.00712	.	.	ENSG00000124233	ENST00000244069;ENST00000372781	T;T	0.03951	3.75;3.75	0.951	-1.9	0.07665	.	.	.	.	.	T	0.00754	0.0025	N	0.00082	-2.215	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.34079	-0.9843	9	0.09590	T	0.72	.	0.297	0.00267	0.2228:0.2395:0.2981:0.2396	.	312;372	P04279-2;P04279	.;SEMG1_HUMAN	S	312;372	ENSP00000244069:R312S;ENSP00000361867:R372S	ENSP00000244069:R312S	R	+	1	0	SEMG1	43270466	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-0.965000	0.03829	-2.064000	0.00888	-1.625000	0.00788	CGC		0.418	SEMG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079416.3	NM_003007		5	194	1	0	0.00116845	1	0.00123969	5	194				
SNX25	83891	broad.mit.edu	37	4	186263224	186263224	+	Missense_Mutation	SNP	C	C	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr4:186263224C>T	ENST00000504273.1	+	12	1943	c.1649C>T	c.(1648-1650)cCc>cTc	p.P550L	SNX25_ENST00000264694.8_Missense_Mutation_p.P550L|SNX25_ENST00000512853.1_3'UTR			Q9H3E2	SNX25_HUMAN	sorting nexin 25	550	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|protein transport (GO:0015031)|receptor catabolic process (GO:0032801)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	endosome (GO:0005768)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(8)|lung(13)|ovary(2)|pancreas(2)|prostate(2)|urinary_tract(2)	40		all_lung(41;1.03e-13)|Lung NSC(41;2.5e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;2.13e-24)|Epithelial(43;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.6e-11)|BRCA - Breast invasive adenocarcinoma(30;0.00013)|Colorectal(24;0.000165)|GBM - Glioblastoma multiforme(59;0.000357)|COAD - Colon adenocarcinoma(29;0.000887)|STAD - Stomach adenocarcinoma(60;0.00118)|LUSC - Lung squamous cell carcinoma(40;0.0129)|READ - Rectum adenocarcinoma(43;0.228)		TGGACGGTCCCCAGAAGGCTC	0.438																																						ENST00000504273.1																			0				NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(8)|lung(13)|ovary(2)|pancreas(2)|prostate(2)|urinary_tract(2)	40						c.(1648-1650)cCc>cTc		sorting nexin 25							153.0	153.0	153.0					4																	186263224		2203	4300	6503	SO:0001583	missense	83891				cell communication|protein transport	endosome membrane	phosphatidylinositol binding|signal transducer activity	g.chr4:186263224C>T	AF113223	CCDS34116.1	4q35.1	2011-05-03			ENSG00000109762	ENSG00000109762		"""Sorting nexins"""	21883	protein-coding gene	gene with protein product						12461558	Standard	NM_031953		Approved	SBBI31	uc003ixh.3	Q9H3E2	OTTHUMG00000160475	ENST00000504273.1:c.1649C>T	4.37:g.186263224C>T	ENSP00000426255:p.Pro550Leu		Somatic				SNX25_ENST00000512853.1_3'UTR|SNX25_ENST00000264694.8_Missense_Mutation_p.P550L	p.P550L			WXS	Illumina GAIIx	Phase_I	Q9H3E2	SNX25_HUMAN		all cancers(43;2.13e-24)|Epithelial(43;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.6e-11)|BRCA - Breast invasive adenocarcinoma(30;0.00013)|Colorectal(24;0.000165)|GBM - Glioblastoma multiforme(59;0.000357)|COAD - Colon adenocarcinoma(29;0.000887)|STAD - Stomach adenocarcinoma(60;0.00118)|LUSC - Lung squamous cell carcinoma(40;0.0129)|READ - Rectum adenocarcinoma(43;0.228)	12	1943	+		all_lung(41;1.03e-13)|Lung NSC(41;2.5e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)	550			PX.		Q3ZT30|Q8N6K3	Missense_Mutation	SNP	ENST00000504273.1	37	c.1649C>T	CCDS34116.1	.	.	.	.	.	.	.	.	.	.	C	8.024	0.760316	0.15914	.	.	ENSG00000109762	ENST00000504273;ENST00000264694;ENST00000264693	T;T	0.37915	1.17;1.17	5.36	5.36	0.76844	Phox homologous domain (5);	0.276195	0.37348	N	0.002135	T	0.19685	0.0473	N	0.16903	0.455	0.51012	D	0.999905	B;B;B	0.15930	0.015;0.002;0.004	B;B;B	0.16289	0.015;0.003;0.011	T	0.12091	-1.0561	10	0.11794	T	0.64	-12.1885	8.7556	0.34643	0.1507:0.7736:0.0:0.0756	.	321;83;550	Q8N6K3;Q9H5Q8;Q9H3E2	.;.;SNX25_HUMAN	L	550;550;83	ENSP00000426255:P550L;ENSP00000264694:P550L	ENSP00000264693:P83L	P	+	2	0	SNX25	186500218	0.967000	0.33354	1.000000	0.80357	0.975000	0.68041	1.805000	0.38883	2.671000	0.90904	0.643000	0.83706	CCC		0.438	SNX25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360756.1	NM_031953		35	247	0	0	0	1	0	35	247				
CLASP1	23332	broad.mit.edu	37	2	122161947	122161947	+	Splice_Site	SNP	C	C	A			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr2:122161947C>A	ENST00000263710.4	-	26	3122	c.2733G>T	c.(2731-2733)aaG>aaT	p.K911N	CLASP1_ENST00000455322.2_Splice_Site_p.K883N|CLASP1_ENST00000397587.3_Splice_Site_p.K891N|CLASP1_ENST00000545861.1_Splice_Site_p.K658N|CLASP1_ENST00000541377.1_Splice_Site_p.K889N|CLASP1_ENST00000409078.3_Splice_Site_p.K883N|CLASP1_ENST00000541859.1_Splice_Site_p.K644N	NM_015282.2	NP_056097.1	Q7Z460	CLAP1_HUMAN	cytoplasmic linker associated protein 1	911					axon guidance (GO:0007411)|cell division (GO:0051301)|establishment of spindle orientation (GO:0051294)|establishment or maintenance of cell polarity (GO:0007163)|exit from mitosis (GO:0010458)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule anchoring (GO:0034453)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|microtubule nucleation (GO:0007020)|microtubule organizing center organization (GO:0031023)|mitotic cell cycle (GO:0000278)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of microtubule polymerization or depolymerization (GO:0031111)	cell cortex (GO:0005938)|centrosomal corona (GO:0031592)|centrosome (GO:0005813)|cortical microtubule cytoskeleton (GO:0030981)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|spindle microtubule (GO:0005876)	kinetochore binding (GO:0043515)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47	Renal(3;0.0496)					TCAGACTTACCTTGCTATGAG	0.428																																						ENST00000263710.4																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47						c.e26+1		cytoplasmic linker associated protein 1							102.0	102.0	102.0					2																	122161947		2012	4178	6190	SO:0001630	splice_region_variant	23332				axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|G2/M transition of mitotic cell cycle|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization	centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|Golgi apparatus|kinetochore microtubule	kinetochore binding|microtubule plus-end binding	g.chr2:122161947C>A	AB014522		2q14.2-q14.3	2013-01-18			ENSG00000074054	ENSG00000074054			17088	protein-coding gene	gene with protein product	"""multiple asters 1"""	605852				9734811, 10899121, 16914514	Standard	NM_015282		Approved	KIAA0622, MAST1	uc002tnc.3	Q7Z460	OTTHUMG00000153331	ENST00000263710.4:c.2733+1G>T	2.37:g.122161947C>A			Somatic				CLASP1_ENST00000455322.2_Splice_Site_p.K883_splice|CLASP1_ENST00000541377.1_Splice_Site_p.K889_splice|CLASP1_ENST00000409078.3_Splice_Site_p.K883_splice|CLASP1_ENST00000541859.1_Splice_Site_p.K644_splice|CLASP1_ENST00000397587.3_Splice_Site_p.K891_splice|CLASP1_ENST00000545861.1_Splice_Site_p.K658_splice	p.K911_splice	NM_015282.2	NP_056097.1	WXS	Illumina GAIIx	Phase_I	Q7Z460	CLAP1_HUMAN			26	3122	-	Renal(3;0.0496)		911					B7ZLX3|O75118|Q2KHQ9|Q5H9P0|Q8N5B8|Q9BQT5	Splice_Site	SNP	ENST00000263710.4	37	c.2733_splice		.	.	.	.	.	.	.	.	.	.	C	18.31	3.594792	0.66219	.	.	ENSG00000074054	ENST00000263710;ENST00000455322;ENST00000397587;ENST00000541377;ENST00000541859;ENST00000409078;ENST00000545861	T;T;T;T;T;T;T	0.66995	-0.24;-0.24;-0.24;-0.24;-0.24;-0.24;-0.24	5.52	5.52	0.82312	Armadillo-like helical (1);Armadillo-type fold (1);	0.160510	0.53938	D	0.000044	T	0.80701	0.4673	M	0.63843	1.955	0.80722	D	1	D;P;P;D	0.89917	1.0;0.952;0.695;0.972	D;P;B;P	0.87578	0.998;0.502;0.429;0.885	T	0.78964	-0.1996	9	.	.	.	-5.9206	19.4352	0.94788	0.0:1.0:0.0:0.0	.	883;891;889;911	E7EUA5;F5GWS0;B7ZLX3;Q7Z460	.;.;.;CLAP1_HUMAN	N	911;883;891;889;644;883;658	ENSP00000263710:K911N;ENSP00000389372:K883N;ENSP00000380717:K891N;ENSP00000441625:K889N;ENSP00000441770:K644N;ENSP00000386442:K883N;ENSP00000438620:K658N	.	K	-	3	2	CLASP1	121878417	1.000000	0.71417	1.000000	0.80357	0.401000	0.30781	7.506000	0.81665	2.599000	0.87857	0.563000	0.77884	AAG		0.428	CLASP1-201	KNOWN	basic	protein_coding	protein_coding		NM_015282	Missense_Mutation	3	44	1	0	1	1	1	3	44				
EDC4	23644	broad.mit.edu	37	16	67914536	67914536	+	Missense_Mutation	SNP	G	G	A			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr16:67914536G>A	ENST00000358933.5	+	18	2413	c.2174G>A	c.(2173-2175)aGc>aAc	p.S725N	CTC-479C5.10_ENST00000572067.1_lincRNA|AC040162.1_ENST00000408599.1_RNA	NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN	enhancer of mRNA decapping 4	725					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		GCCTCCCCTAGCCGCACTCGT	0.632																																						ENST00000358933.5																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41						c.(2173-2175)aGc>aAc		enhancer of mRNA decapping 4							160.0	160.0	160.0					16																	67914536		2198	4300	6498	SO:0001583	missense	23644				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding	g.chr16:67914536G>A	U17474	CCDS10849.1	16q22.1	2008-02-05			ENSG00000038358	ENSG00000038358			17157	protein-coding gene	gene with protein product		606030				9067524	Standard	NM_014329		Approved	RCD-8, Ge-1, HEDLS	uc002eur.3	Q6P2E9	OTTHUMG00000137543	ENST00000358933.5:c.2174G>A	16.37:g.67914536G>A	ENSP00000351811:p.Ser725Asn		Somatic					p.S725N	NM_014329.4	NP_055144.3	WXS	Illumina GAIIx	Phase_I	Q6P2E9	EDC4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	18	2413	+		Ovarian(137;0.0563)	725					A6NGM1|A8K4T4|Q13025|Q13826|Q6ZR12|Q7Z6H7	Missense_Mutation	SNP	ENST00000358933.5	37	c.2174G>A	CCDS10849.1	.	.	.	.	.	.	.	.	.	.	G	18.69	3.678696	0.68042	.	.	ENSG00000038358	ENST00000358933	.	.	.	5.47	4.49	0.54785	.	0.041369	0.85682	D	0.000000	T	0.30603	0.0770	N	0.08118	0	0.39250	D	0.964022	B	0.26672	0.156	B	0.24541	0.054	T	0.18650	-1.0330	9	0.25751	T	0.34	-11.2381	12.4541	0.55693	0.0:0.398:0.602:0.0	.	725	Q6P2E9	EDC4_HUMAN	N	725	.	ENSP00000351811:S725N	S	+	2	0	EDC4	66472037	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.307000	0.59123	2.560000	0.86352	0.591000	0.81541	AGC		0.632	EDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268874.2	NM_014329		4	171	0	0	0	1	0	4	171				
ATP13A3	79572	broad.mit.edu	37	3	194157925	194157925	+	Missense_Mutation	SNP	G	G	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr3:194157925G>T	ENST00000439040.1	-	20	2810	c.2019C>A	c.(2017-2019)aaC>aaA	p.N673K	ATP13A3_ENST00000256031.4_Missense_Mutation_p.N673K			Q9H7F0	AT133_HUMAN	ATPase type 13A3	673						integral component of membrane (GO:0016021)|membrane (GO:0016020)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		CTTCCAAAACGTTTTGAAAAT	0.348																																						ENST00000439040.1																			0				NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24						c.(2017-2019)aaC>aaA		ATPase type 13A3							112.0	105.0	107.0					3																	194157925		1810	4086	5896	SO:0001583	missense	79572				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr3:194157925G>T	AJ306929	CCDS43187.1	3q29	2010-04-20			ENSG00000133657	ENSG00000133657		"""ATPases / P-type"""	24113	protein-coding gene	gene with protein product	"""ATPase family homolog up regulated in senescence cells"""	610232				11867234	Standard	NM_024524		Approved	AFURS1	uc003fty.4	Q9H7F0	OTTHUMG00000156034	ENST00000439040.1:c.2019C>A	3.37:g.194157925G>T	ENSP00000416508:p.Asn673Lys		Somatic				ATP13A3_ENST00000256031.4_Missense_Mutation_p.N673K	p.N673K			WXS	Illumina GAIIx	Phase_I	Q9H7F0	AT133_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)	20	2810	-	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	673					Q8NC11|Q96KS1	Missense_Mutation	SNP	ENST00000439040.1	37	c.2019C>A	CCDS43187.1	.	.	.	.	.	.	.	.	.	.	G	0.583	-0.836091	0.02713	.	.	ENSG00000133657	ENST00000439040;ENST00000256031;ENST00000310773	T;T	0.63913	-0.07;-0.07	6.04	-3.97	0.04094	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.536185	0.24226	N	0.040399	T	0.24661	0.0598	N	0.04162	-0.26	0.19575	N	0.999967	B	0.02656	0.0	B	0.08055	0.003	T	0.14337	-1.0476	10	0.15952	T	0.53	-9.9315	0.7268	0.00950	0.3646:0.1847:0.275:0.1757	.	673	Q9H7F0	AT133_HUMAN	K	673;673;411	ENSP00000416508:N673K;ENSP00000256031:N673K	ENSP00000256031:N673K	N	-	3	2	ATP13A3	195639214	0.444000	0.25649	0.793000	0.32043	0.920000	0.55202	-0.253000	0.08794	-0.634000	0.05538	-1.088000	0.02184	AAC		0.348	ATP13A3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342799.2	NM_024524		10	213	1	0	1.76689e-08	1	1.97077e-08	10	213				
SLC44A4	80736	broad.mit.edu	37	6	31842504	31842504	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr6:31842504C>T	ENST00000229729.6	-	6	482	c.462G>A	c.(460-462)tgG>tgA	p.W154*	SLC44A4_ENST00000375562.4_Intron|SLC44A4_ENST00000465707.1_5'UTR|SLC44A4_ENST00000544672.1_Nonsense_Mutation_p.W78*	NM_025257.2	NP_079533.2	Q53GD3	CTL4_HUMAN	solute carrier family 44, member 4	154					acetylcholine biosynthetic process (GO:0008292)|acetylcholine secretion (GO:0061526)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|positive regulation of cell growth (GO:0030307)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(1)|urinary_tract(2)	35					Choline(DB00122)	TCACCATATTCCAGGGTACCC	0.532																																						ENST00000544672.1																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(1)|urinary_tract(2)	35						c.(232-234)tgG>tgA		solute carrier family 44, member 4	Choline(DB00122)						72.0	66.0	68.0					6																	31842504		2203	4300	6503	SO:0001587	stop_gained	80736					integral to membrane|plasma membrane	choline transmembrane transporter activity	g.chr6:31842504C>T	AF134726	CCDS4724.2, CCDS54989.1, CCDS54990.1	6p21.3	2014-02-17	2005-09-06	2005-09-06	ENSG00000204385	ENSG00000204385		"""Solute carriers"""	13941	protein-coding gene	gene with protein product		606107	"""chromosome 6 open reading frame 29"""	C6orf29		10677542, 15715662, 24379411	Standard	NM_025257		Approved	NG22, CTL4, FLJ14491, TPPT	uc010jti.3	Q53GD3	OTTHUMG00000031133	ENST00000229729.6:c.462G>A	6.37:g.31842504C>T	ENSP00000229729:p.Trp154*		Somatic				SLC44A4_ENST00000465707.1_5'UTR|SLC44A4_ENST00000229729.6_Nonsense_Mutation_p.W154*|SLC44A4_ENST00000375562.4_Intron	p.W78*	NM_001178045.1	NP_001171516.1	WXS	Illumina GAIIx	Phase_I	Q53GD3	CTL4_HUMAN			6	530	-			154					A2BED3|B0UXX8|B0UZY8|B4DU94|B4DWM2|E9PEK7|Q5JP84|Q5JQ93|Q658S8|Q6UX89|Q8TEW4|Q96C58|Q96K59|Q9Y332	Nonsense_Mutation	SNP	ENST00000229729.6	37	c.234G>A	CCDS4724.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.8|20.8	4.055246|4.055246	0.75960|0.75960	.|.	.|.	ENSG00000204385|ENSG00000204385	ENST00000414427|ENST00000229729;ENST00000544672	.|.	.|.	.|.	4.9|4.9	-2.07|-2.07	0.07276|0.07276	.|.	.|2.450880	.|0.01241	.|N	.|0.008608	T|.	0.05502|.	0.0145|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.17531|.	-1.0366|.	3|.	.|0.33940	.|T	.|0.23	-25.71|-25.71	0.9859|0.9859	0.01446|0.01446	0.2817:0.2782:0.2772:0.1629|0.2817:0.2782:0.2772:0.1629	.|.	.|.	.|.	.|.	E|X	150|154;78	.|.	.|ENSP00000229729:W154X	G|W	-|-	2|3	0|0	SLC44A4|SLC44A4	31950483|31950483	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.860000|0.860000	0.49131|0.49131	-0.431000|-0.431000	0.06965|0.06965	-0.185000|-0.185000	0.10550|0.10550	0.655000|0.655000	0.94253|0.94253	GGA|TGG		0.532	SLC44A4-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076234.3			29	69	0	0	0	1	0	29	69				
OR2AK2	391191	broad.mit.edu	37	1	248128995	248128995	+	Missense_Mutation	SNP	C	C	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr1:248128995C>T	ENST00000366480.3	+	1	461	c.362C>T	c.(361-363)gCc>gTc	p.A121V	OR2L13_ENST00000366478.2_Intron	NM_001004491.1	NP_001004491.1	Q8NG84	O2AK2_HUMAN	olfactory receptor, family 2, subfamily AK, member 2	121						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			GTGTTCTTGGCCCTTGGTGGA	0.443																																					Melanoma(45;390 1181 23848 28461 41504)	ENST00000366480.3																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36						c.(361-363)gCc>gTc		olfactory receptor, family 2, subfamily AK, member 2							383.0	338.0	353.0					1																	248128995		2203	4300	6503	SO:0001583	missense	391191				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248128995C>T	BK004457	CCDS31102.1	1q44	2012-08-09			ENSG00000187080	ENSG00000187080		"""GPCR / Class A : Olfactory receptors"""	19569	protein-coding gene	gene with protein product				OR2AK1P			Standard	NM_001004491		Approved		uc010pzd.2	Q8NG84	OTTHUMG00000040201	ENST00000366480.3:c.362C>T	1.37:g.248128995C>T	ENSP00000355436:p.Ala121Val		Somatic				OR2L13_ENST00000366478.2_Intron	p.A121V	NM_001004491.1	NP_001004491.1	WXS	Illumina GAIIx	Phase_I	Q8NG84	O2AK2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0152)		1	461	+	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		121					B2RND1|Q6IF05	Missense_Mutation	SNP	ENST00000366480.3	37	c.362C>T	CCDS31102.1	.	.	.	.	.	.	.	.	.	.	.	10.52	1.373613	0.24857	.	.	ENSG00000187080	ENST00000366480	T	0.02177	4.41	3.03	-1.39	0.08997	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.01320	0.0043	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.14023	0.01	T	0.46582	-0.9181	9	0.72032	D	0.01	.	4.2082	0.10498	0.0:0.2336:0.3455:0.421	.	121	Q8NG84	O2AK2_HUMAN	V	121	ENSP00000355436:A121V	ENSP00000355436:A121V	A	+	2	0	OR2AK2	246195618	0.000000	0.05858	0.000000	0.03702	0.075000	0.17131	-1.662000	0.01970	-0.161000	0.10983	-0.391000	0.06502	GCC		0.443	OR2AK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096858.2	NM_001004491		5	451	0	0	0	1	0	5	451				
TLN2	83660	broad.mit.edu	37	15	63030431	63030431	+	Missense_Mutation	SNP	C	C	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr15:63030431C>T	ENST00000561311.1	+	29	3816	c.3586C>T	c.(3586-3588)Cac>Tac	p.H1196Y	TLN2_ENST00000306829.6_Missense_Mutation_p.H1196Y|TLN2_ENST00000559908.1_3'UTR			Q9Y4G6	TLN2_HUMAN	talin 2	1196					cell adhesion (GO:0007155)|cell-cell junction assembly (GO:0007043)|cytoskeletal anchoring at plasma membrane (GO:0007016)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	actin binding (GO:0003779)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						AGCCGTCTCACACTCCTTGAA	0.493																																						ENST00000561311.1																			0				NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						c.(3586-3588)Cac>Tac		talin 2							143.0	125.0	131.0					15																	63030431		2203	4300	6503	SO:0001583	missense	83660				cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton	g.chr15:63030431C>T	AB002318	CCDS32261.1	15q15-q21	2008-07-03			ENSG00000171914	ENSG00000171914			15447	protein-coding gene	gene with protein product		607349				9205841, 11527381	Standard	NM_015059		Approved	KIAA0320, ILWEQ	uc002alb.4	Q9Y4G6	OTTHUMG00000133679	ENST00000561311.1:c.3586C>T	15.37:g.63030431C>T	ENSP00000453508:p.His1196Tyr		Somatic				TLN2_ENST00000306829.6_Missense_Mutation_p.H1196Y|TLN2_ENST00000559908.1_3'UTR	p.H1196Y			WXS	Illumina GAIIx	Phase_I	Q9Y4G6	TLN2_HUMAN			29	3816	+			1196					A6NLB8	Missense_Mutation	SNP	ENST00000561311.1	37	c.3586C>T	CCDS32261.1	.	.	.	.	.	.	.	.	.	.	C	9.962	1.222949	0.22457	.	.	ENSG00000171914	ENST00000306829	T	0.13901	2.55	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.18882	0.0453	L	0.40543	1.245	0.80722	D	1	P	0.47191	0.891	P	0.46208	0.507	T	0.00571	-1.1665	10	0.35671	T	0.21	-19.9438	19.4352	0.94788	0.0:1.0:0.0:0.0	.	1196	Q9Y4G6	TLN2_HUMAN	Y	1196	ENSP00000303476:H1196Y	ENSP00000303476:H1196Y	H	+	1	0	TLN2	60817723	1.000000	0.71417	0.961000	0.40146	0.982000	0.71751	5.959000	0.70339	2.668000	0.90789	0.655000	0.94253	CAC		0.493	TLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257878.2			6	542	0	0	0	1	0	6	542				
CXorf22	170063	broad.mit.edu	37	X	35969399	35969399	+	Missense_Mutation	SNP	G	G	A			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chrX:35969399G>A	ENST00000297866.5	+	5	874	c.808G>A	c.(808-810)Gca>Aca	p.A270T		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	270										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						AATTAAACATGCACGTGTATA	0.418																																						ENST00000297866.5																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						c.(808-810)Gca>Aca		chromosome X open reading frame 22							79.0	69.0	72.0					X																	35969399		2202	4300	6502	SO:0001583	missense	170063							g.chrX:35969399G>A	BC027936	CCDS14237.2	Xp21.1	2014-08-07			ENSG00000165164	ENSG00000165164			28546	protein-coding gene	gene with protein product						12477932	Standard	NM_152632		Approved	MGC34831	uc004ddj.3	Q6ZTR5	OTTHUMG00000021350	ENST00000297866.5:c.808G>A	X.37:g.35969399G>A	ENSP00000297866:p.Ala270Thr		Somatic					p.A270T	NM_152632.3	NP_689845.2	WXS	Illumina GAIIx	Phase_I	Q6ZTR5	CX022_HUMAN			5	874	+			270					Q5JRM8|Q8N6X8	Missense_Mutation	SNP	ENST00000297866.5	37	c.808G>A	CCDS14237.2	.	.	.	.	.	.	.	.	.	.	G	14.04	2.415844	0.42817	.	.	ENSG00000165164	ENST00000297866	T	0.16073	2.37	5.76	5.76	0.90799	.	0.221824	0.46145	D	0.000303	T	0.36026	0.0952	M	0.74881	2.28	0.21915	N	0.999474	D	0.69078	0.997	D	0.64506	0.926	T	0.30880	-0.9963	10	0.22109	T	0.4	-19.1526	11.0655	0.47972	0.0951:0.0:0.9049:0.0	.	270	Q6ZTR5	CX022_HUMAN	T	270	ENSP00000297866:A270T	ENSP00000297866:A270T	A	+	1	0	CXorf22	35879320	0.815000	0.29118	0.120000	0.21714	0.036000	0.12997	4.148000	0.58085	2.416000	0.81992	0.513000	0.50165	GCA		0.418	CXorf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056216.2	NM_152632		39	67	0	0	0	1	0	39	67				
CARD11	84433	broad.mit.edu	37	7	2963985	2963985	+	Missense_Mutation	SNP	G	G	A	rs200736339		TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr7:2963985G>A	ENST00000396946.4	-	15	2225	c.1822C>T	c.(1822-1824)Cgc>Tgc	p.R608C		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	608					Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|nucleotide phosphorylation (GO:0046939)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cytokine production (GO:0001819)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell proliferation (GO:0042102)|regulation of apoptotic process (GO:0042981)|regulation of B cell differentiation (GO:0045577)|regulation of T cell differentiation (GO:0045580)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|thymic T cell selection (GO:0045061)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	CARD domain binding (GO:0050700)|guanylate kinase activity (GO:0004385)			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		AAGGAGTAGCGTTCGTGACTG	0.642			Mis		DLBCL																																	ENST00000396946.4				Dom	yes		7	7p22	84433	Mis	"""caspase recruitment domain family, member 11"""			L			DLBCL		0				NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150						c.(1822-1824)Cgc>Tgc		caspase recruitment domain family, member 11		G	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	93.0	77.0	83.0		1822	5.2	0.0	7		83	0,8600		0,0,4300	no	missense	CARD11	NM_032415.4	180	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	608/1155	2963985	1,13005	2203	4300	6503	SO:0001583	missense	84433				positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity	g.chr7:2963985G>A	AF322641	CCDS5336.2	7p22	2014-09-17			ENSG00000198286	ENSG00000198286			16393	protein-coding gene	gene with protein product	"""card-maguk protein 1"", ""bcl10-interacting maguk protein 3"""	607210				11278692, 11356195	Standard	NM_032415		Approved	CARMA1, BIMP3	uc003smv.3	Q9BXL7	OTTHUMG00000023023	ENST00000396946.4:c.1822C>T	7.37:g.2963985G>A	ENSP00000380150:p.Arg608Cys		Somatic					p.R608C	NM_032415.4	NP_115791.3	WXS	Illumina GAIIx	Phase_I	Q9BXL7	CAR11_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)	15	2225	-		Ovarian(82;0.0115)	608					A4D1Z7|Q2NKN7|Q548H3	Missense_Mutation	SNP	ENST00000396946.4	37	c.1822C>T	CCDS5336.2	.	.	.	.	.	.	.	.	.	.	G	7.194	0.592101	0.13812	2.27E-4	0.0	ENSG00000198286	ENST00000396946;ENST00000355508	T;T	0.34275	1.37;2.32	5.15	5.15	0.70609	.	0.374846	0.25009	N	0.033857	T	0.32675	0.0837	N	0.08118	0	0.24527	N	0.994137	D	0.76494	0.999	P	0.57846	0.828	T	0.16541	-1.0399	10	0.48119	T	0.1	-19.9497	11.628	0.51158	0.0:0.0:0.7737:0.2263	.	608	Q9BXL7	CAR11_HUMAN	C	608;79	ENSP00000380150:R608C;ENSP00000347695:R79C	ENSP00000347695:R79C	R	-	1	0	CARD11	2930511	0.864000	0.29904	0.043000	0.18650	0.525000	0.34531	3.497000	0.53295	2.416000	0.81992	0.555000	0.69702	CGC		0.642	CARD11-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059344.4	NM_032415		3	122	0	0	0	1	0	3	122				
KDM3B	51780	broad.mit.edu	37	5	137756470	137756470	+	Missense_Mutation	SNP	C	C	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr5:137756470C>T	ENST00000314358.5	+	15	3991	c.3791C>T	c.(3790-3792)gCa>gTa	p.A1264V	KDM3B_ENST00000508386.1_3'UTR|KDM3B_ENST00000394866.1_Missense_Mutation_p.A920V|KDM3B_ENST00000542866.1_Missense_Mutation_p.A296V	NM_016604.3	NP_057688	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	1264					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						AACTCCACTGCAAAGGTCTCT	0.512																																						ENST00000314358.5																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						c.(3790-3792)gCa>gTa		lysine (K)-specific demethylase 3B							96.0	95.0	95.0					5																	137756470		2203	4300	6503	SO:0001583	missense	51780				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr5:137756470C>T	AF251039	CCDS34242.1	5q31	2011-07-01	2009-04-06	2009-04-06	ENSG00000120733	ENSG00000120733		"""Chromatin-modifying enzymes / K-demethylases"""	1337	protein-coding gene	gene with protein product		609373	"""chromosome 5 open reading frame 7"", ""jumonji domain containing 1B"""	C5orf7, JMJD1B		15138608	Standard	NM_016604		Approved	KIAA1082, NET22	uc003lcy.1	Q7LBC6	OTTHUMG00000163469	ENST00000314358.5:c.3791C>T	5.37:g.137756470C>T	ENSP00000326563:p.Ala1264Val		Somatic				KDM3B_ENST00000508386.1_3'UTR|KDM3B_ENST00000394866.1_Missense_Mutation_p.A920V|KDM3B_ENST00000542866.1_Missense_Mutation_p.A296V	p.A1264V	NM_016604.3	NP_057688.2	WXS	Illumina GAIIx	Phase_I	Q7LBC6	KDM3B_HUMAN			15	3991	+			1264					A6H8X7|Q9BVH6|Q9BW93|Q9BZ52|Q9NYF4|Q9UPS0	Missense_Mutation	SNP	ENST00000314358.5	37	c.3791C>T	CCDS34242.1	.	.	.	.	.	.	.	.	.	.	C	18.97	3.736312	0.69189	.	.	ENSG00000120733	ENST00000314358;ENST00000545151;ENST00000394866;ENST00000542866	T;T;T	0.70631	0.09;-0.5;-0.48	5.76	5.76	0.90799	.	0.161451	0.56097	D	0.000029	T	0.50718	0.1632	N	0.04959	-0.14	0.38265	D	0.941993	B;B	0.12630	0.002;0.006	B;B	0.10450	0.005;0.004	T	0.52540	-0.8562	10	0.46703	T	0.11	-23.2761	13.2004	0.59765	0.0:0.9272:0.0:0.0728	.	920;1264	Q7LBC6-2;Q7LBC6	.;KDM3B_HUMAN	V	1264;1054;920;296	ENSP00000326563:A1264V;ENSP00000378335:A920V;ENSP00000439462:A296V	ENSP00000326563:A1264V	A	+	2	0	KDM3B	137784369	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.592000	0.67543	2.717000	0.92951	0.655000	0.94253	GCA		0.512	KDM3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373597.1	NM_016604		5	431	0	0	0	1	0	5	431				
NAV3	89795	broad.mit.edu	37	12	78225248	78225248	+	Missense_Mutation	SNP	G	G	A			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr12:78225248G>A	ENST00000397909.2	+	1	180	c.7G>A	c.(7-9)Gtt>Att	p.V3I	NAV3_ENST00000228327.6_Missense_Mutation_p.V3I|NAV3_ENST00000536525.2_Missense_Mutation_p.V3I|NAV3_ENST00000266692.7_Missense_Mutation_p.V3I			Q8IVL0	NAV3_HUMAN	neuron navigator 3	3						membrane (GO:0016020)|nuclear envelope (GO:0005635)				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						AGCCATGCCTGTTCTTGGGGT	0.443										HNSCC(70;0.22)																												ENST00000397909.2																			0				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						c.(7-9)Gtt>Att		neuron navigator 3							193.0	193.0	193.0					12																	78225248		1859	4104	5963	SO:0001583	missense	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78225248G>A	AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.7G>A	12.37:g.78225248G>A	ENSP00000381007:p.Val3Ile	HNSCC(70;0.22)	Somatic				NAV3_ENST00000266692.7_Missense_Mutation_p.V3I|NAV3_ENST00000228327.6_Missense_Mutation_p.V3I|NAV3_ENST00000536525.2_Missense_Mutation_p.V3I	p.V3I			WXS	Illumina GAIIx	Phase_I	Q8IVL0	NAV3_HUMAN			1	180	+			3					Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	ENST00000397909.2	37	c.7G>A		.	.	.	.	.	.	.	.	.	.	G	18.25	3.582532	0.65992	.	.	ENSG00000067798	ENST00000549464;ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692	T;T;T;T;T	0.60797	0.16;1.68;1.67;1.68;1.57	5.69	5.69	0.88448	Calponin homology domain (1);	.	.	.	.	T	0.65575	0.2704	N	0.19112	0.55	0.80722	D	1	D;D	0.61697	0.984;0.99	D;D	0.73380	0.956;0.98	T	0.68644	-0.5354	9	0.59425	D	0.04	-11.4444	19.8101	0.96543	0.0:0.0:1.0:0.0	.	3;3	Q8IVL0;Q8IVL0-2	NAV3_HUMAN;.	I	3	ENSP00000446628:V3I;ENSP00000446132:V3I;ENSP00000381007:V3I;ENSP00000228327:V3I;ENSP00000266692:V3I	ENSP00000228327:V3I	V	+	1	0	NAV3	76749379	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	7.932000	0.87634	2.696000	0.92011	0.655000	0.94253	GTT		0.443	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		7	675	0	0	0	1	0	7	675				
TRIM37	4591	broad.mit.edu	37	17	57125063	57125063	+	Missense_Mutation	SNP	C	C	A			TCGA-AS-3777-01A-01D-0966-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b771fd10-af27-4da6-aa24-7ecc2d1474e0	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr17:57125063C>A	ENST00000262294.7	-	16	1907	c.1648G>T	c.(1648-1650)Gat>Tat	p.D550Y	TRIM37_ENST00000376149.3_Missense_Mutation_p.D428Y|TRIM37_ENST00000393066.3_Missense_Mutation_p.D550Y|TRIM37_ENST00000393065.2_Missense_Mutation_p.D516Y	NM_015294.3	NP_056109.1	O94972	TRI37_HUMAN	tripartite motif containing 37	550					aggresome assembly (GO:0070842)|negative regulation of centriole replication (GO:0046600)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein autoubiquitination (GO:0051865)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|peroxisome (GO:0005777)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(13)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					TCATCAATATCATTTTCTTCT	0.353									Mulibrey Nanism																													ENST00000376149.3																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(13)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.(1282-1284)Gat>Tat		tripartite motif containing 37							106.0	94.0	98.0					17																	57125063		2203	4300	6503	SO:0001583	missense	4591	Mulibrey Nanism	Familial Cancer Database	Perheentupa syndrome		perinuclear region of cytoplasm|peroxisome	ligase activity|protein binding|zinc ion binding	g.chr17:57125063C>A	AB020705	CCDS32694.1, CCDS45746.1	17q	2014-02-17	2011-01-25	2001-11-30		ENSG00000108395		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	7523	protein-coding gene	gene with protein product	"""RING-B-box-coiled-coil protein"""	605073	"""tripartite motif-containing 37"""	MUL		9106536, 10888877	Standard	NM_015294		Approved	KIAA0898, POB1, TEF3	uc002iwy.4	O94972		ENST00000262294.7:c.1648G>T	17.37:g.57125063C>A	ENSP00000262294:p.Asp550Tyr		Somatic				TRIM37_ENST00000393066.3_Missense_Mutation_p.D550Y|TRIM37_ENST00000393065.2_Missense_Mutation_p.D516Y|TRIM37_ENST00000262294.7_Missense_Mutation_p.D550Y	p.D428Y			WXS	Illumina GAIIx	Phase_I	O94972	TRI37_HUMAN			16	2091	-	Medulloblastoma(34;0.0922)|all_neural(34;0.101)		550					Q7Z3E6|Q8IYF7|Q8WYF7	Missense_Mutation	SNP	ENST00000262294.7	37	c.1282G>T	CCDS32694.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.439494	0.83885	.	.	ENSG00000108395	ENST00000393066;ENST00000262294;ENST00000376149;ENST00000393065	T;T;D;T	0.81659	0.25;0.25;-1.52;-0.17	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	D	0.85911	0.5807	L	0.32530	0.975	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.997	D	0.87223	0.2255	10	0.87932	D	0	-6.472	19.5128	0.95151	0.0:1.0:0.0:0.0	.	516;428;550	F8WEE6;O94972-2;O94972	.;.;TRI37_HUMAN	Y	550;550;428;516	ENSP00000376785:D550Y;ENSP00000262294:D550Y;ENSP00000365319:D428Y;ENSP00000376784:D516Y	ENSP00000262294:D550Y	D	-	1	0	TRIM37	54479845	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.487000	0.81328	2.605000	0.88082	0.557000	0.71058	GAT		0.353	TRIM37-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445930.1	NM_015294		5	60	1	0	0.00116845	0.021553	0.00132882	5	60				
TNFAIP2	7127	broad.mit.edu	37	14	103598002	103598002	+	Missense_Mutation	SNP	T	T	G			TCGA-AS-3777-01A-01D-0966-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b771fd10-af27-4da6-aa24-7ecc2d1474e0	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr14:103598002T>G	ENST00000560869.1	+	8	1964	c.1325T>G	c.(1324-1326)gTa>gGa	p.V442G	TNFAIP2_ENST00000451723.2_Missense_Mutation_p.V111G|TNFAIP2_ENST00000333007.1_Missense_Mutation_p.V442G|TNFAIP2_ENST00000538222.1_5'Flank			Q03169	TNAP2_HUMAN	tumor necrosis factor, alpha-induced protein 2	442					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|exocytosis (GO:0006887)	exocyst (GO:0000145)|extracellular space (GO:0005615)		p.V442G(1)		NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	11		Melanoma(154;0.155)	Epithelial(46;0.191)			AATTGGCAGGTACCCCAGGAC	0.622																																						ENST00000560869.1																			1	Substitution - Missense(1)	p.V442G(1)	lung(1)	NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	11						c.(1324-1326)gTa>gGa		tumor necrosis factor, alpha-induced protein 2							28.0	25.0	26.0					14																	103598002		2202	4300	6502	SO:0001583	missense	7127				angiogenesis|cell differentiation	extracellular space		g.chr14:103598002T>G		CCDS9979.1	14q32	2011-01-31				ENSG00000185215			11895	protein-coding gene	gene with protein product	"""exocyst complex component 3-like 3"""	603300				1374453	Standard	NM_006291		Approved	B94, EXOC3L3	uc001ymm.1	Q03169		ENST00000560869.1:c.1325T>G	14.37:g.103598002T>G	ENSP00000452634:p.Val442Gly		Somatic				TNFAIP2_ENST00000451723.2_Missense_Mutation_p.V111G|TNFAIP2_ENST00000333007.1_Missense_Mutation_p.V442G	p.V442G			WXS	Illumina GAIIx	Phase_I	Q03169	TNAP2_HUMAN	Epithelial(46;0.191)		8	1964	+		Melanoma(154;0.155)	442					Q86VI0	Missense_Mutation	SNP	ENST00000560869.1	37	c.1325T>G	CCDS9979.1	.	.	.	.	.	.	.	.	.	.	T	6.001	0.368662	0.11352	.	.	ENSG00000185215	ENST00000333007;ENST00000451723	T;T	0.06218	3.33;3.33	2.79	-1.22	0.09494	.	1.033560	0.07654	N	0.932468	T	0.04227	0.0117	N	0.22421	0.69	0.09310	N	1	B;B	0.30146	0.166;0.27	B;B	0.28916	0.062;0.096	T	0.47484	-0.9114	10	0.23302	T	0.38	0.58	6.0392	0.19724	0.0:0.4227:0.0:0.5773	.	219;442	A1A584;Q03169	.;TNAP2_HUMAN	G	442;111	ENSP00000332326:V442G;ENSP00000393256:V111G	ENSP00000332326:V442G	V	+	2	0	TNFAIP2	102667755	0.000000	0.05858	0.009000	0.14445	0.471000	0.32888	-1.362000	0.02595	-0.261000	0.09405	0.254000	0.18369	GTA		0.622	TNFAIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415674.1	NM_006291		6	19	0	0	0	0.033300	0	6	19				
ARAP2	116984	broad.mit.edu	37	4	36069579	36069579	+	Missense_Mutation	SNP	G	G	A	rs377015356		TCGA-AS-3777-01A-01D-0966-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b771fd10-af27-4da6-aa24-7ecc2d1474e0	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr4:36069579G>A	ENST00000303965.4	-	33	5554	c.5065C>T	c.(5065-5067)Cgg>Tgg	p.R1689W		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	1689					regulation of ARF GTPase activity (GO:0032312)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						GTTCTTGACCGTTGTAGAACC	0.358																																						ENST00000303965.4																			0				breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						c.(5065-5067)Cgg>Tgg		ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2							97.0	98.0	98.0					4																	36069579		2203	4300	6503	SO:0001583	missense	116984				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding	g.chr4:36069579G>A	AF411982	CCDS3441.1	4p15.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000047365	ENSG00000047365		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16924	protein-coding gene	gene with protein product		606645	"""centaurin, delta 1"""	CENTD1			Standard	NM_015230		Approved	PARX	uc003gsq.2	Q8WZ64	OTTHUMG00000097811	ENST00000303965.4:c.5065C>T	4.37:g.36069579G>A	ENSP00000302895:p.Arg1689Trp		Somatic					p.R1689W	NM_015230.3	NP_056045.2	WXS	Illumina GAIIx	Phase_I	Q8WZ64	ARAP2_HUMAN			33	5554	-			1689					Q4W5D2|Q7Z2L5|Q96L70|Q96P49|Q9Y4E4	Missense_Mutation	SNP	ENST00000303965.4	37	c.5065C>T	CCDS3441.1	.	.	.	.	.	.	.	.	.	.	G	16.25	3.069954	0.55539	.	.	ENSG00000047365	ENST00000303965	T	0.10573	2.86	5.79	2.62	0.31277	.	0.081885	0.48286	D	0.000197	T	0.19327	0.0464	L	0.32530	0.975	0.26832	N	0.968552	D	0.89917	1.0	D	0.65573	0.936	T	0.02391	-1.1166	10	0.87932	D	0	.	12.1751	0.54180	0.0:0.0:0.5359:0.4641	.	1689	Q8WZ64	ARAP2_HUMAN	W	1689	ENSP00000302895:R1689W	ENSP00000302895:R1689W	R	-	1	2	ARAP2	35745974	0.543000	0.26434	0.703000	0.30354	0.768000	0.43524	1.288000	0.33296	0.691000	0.31592	0.650000	0.86243	CGG		0.358	ARAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215074.2	NM_015230		15	285	0	0	0	0.033300	0	15	285				
DEPDC7	91614	broad.mit.edu	37	11	33050304	33050304	+	Missense_Mutation	SNP	G	G	T			TCGA-AS-3777-01A-01D-0966-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b771fd10-af27-4da6-aa24-7ecc2d1474e0	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr11:33050304G>T	ENST00000241051.3	+	4	840	c.748G>T	c.(748-750)Gat>Tat	p.D250Y	DEPDC7_ENST00000311388.3_Missense_Mutation_p.D241Y	NM_001077242.1	NP_001070710.1	Q96QD5	DEPD7_HUMAN	DEP domain containing 7	250					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)				endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	17						TAACTATCTGGATCGAGGGAT	0.403																																						ENST00000311388.3																			0				endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	17						c.(721-723)Gat>Tat		DEP domain containing 7							119.0	113.0	115.0					11																	33050304		1908	4132	6040	SO:0001583	missense	91614				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr11:33050304G>T		CCDS41632.1, CCDS41633.1	11p13	2006-03-24			ENSG00000121690	ENSG00000121690			29899	protein-coding gene	gene with protein product		612294				10568747	Standard	NM_001077242		Approved		uc001mub.3	Q96QD5	OTTHUMG00000166242	ENST00000241051.3:c.748G>T	11.37:g.33050304G>T	ENSP00000241051:p.Asp250Tyr		Somatic				DEPDC7_ENST00000241051.3_Missense_Mutation_p.D250Y	p.D241Y	NM_139160.2	NP_631899.2	WXS	Illumina GAIIx	Phase_I	Q96QD5	DEPD7_HUMAN			4	1097	+			250					G5E941|Q8N602|Q8NCU9|Q9UGK5	Missense_Mutation	SNP	ENST00000241051.3	37	c.721G>T	CCDS41632.1	.	.	.	.	.	.	.	.	.	.	G	19.83	3.899934	0.72754	.	.	ENSG00000121690	ENST00000241051;ENST00000311388	T;T	0.16743	2.32;2.34	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.47746	0.1462	M	0.81341	2.54	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	T	0.20306	-1.0279	10	0.38643	T	0.18	-22.4418	20.6593	0.99626	0.0:0.0:1.0:0.0	.	241;250	G5E941;Q96QD5	.;DEPD7_HUMAN	Y	250;241	ENSP00000241051:D250Y;ENSP00000308971:D241Y	ENSP00000241051:D250Y	D	+	1	0	DEPDC7	33006880	1.000000	0.71417	1.000000	0.80357	0.526000	0.34562	8.983000	0.93477	2.885000	0.99019	0.655000	0.94253	GAT		0.403	DEPDC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388655.1	NM_139160		26	174	1	0	1.17739e-12	0.108266	1.48454e-12	26	174				
PELI1	57162	broad.mit.edu	37	2	64323337	64323337	+	Silent	SNP	T	T	C	rs374621766	byFrequency	TCGA-AS-3777-01A-01D-0966-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b771fd10-af27-4da6-aa24-7ecc2d1474e0	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr2:64323337T>C	ENST00000358912.4	-	6	1054	c.612A>G	c.(610-612)ggA>ggG	p.G204G		NM_020651.3	NP_065702.2	Q96FA3	PELI1_HUMAN	pellino E3 ubiquitin protein ligase 1	204					innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cytokine production (GO:0001819)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of toll-like receptor 3 signaling pathway (GO:0034141)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|protein K48-linked ubiquitination (GO:0070936)|response to dsRNA (GO:0043331)|response to lipopolysaccharide (GO:0032496)|Toll signaling pathway (GO:0008063)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)	cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|urinary_tract(1)	19						CTCTCCATATTCCAGGCTTGG	0.438																																						ENST00000358912.4																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|urinary_tract(1)	19						c.(610-612)ggA>ggG		pellino E3 ubiquitin protein ligase 1							171.0	156.0	161.0					2																	64323337		2203	4300	6503	SO:0001819	synonymous_variant	57162				innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol		g.chr2:64323337T>C		CCDS1876.1	2p13.3	2012-02-23	2012-02-23		ENSG00000197329	ENSG00000197329		"""Pellino homologs"""	8827	protein-coding gene	gene with protein product		614797	"""pellino (Drosophila) homolog 1"", ""pellino homolog 1 (Drosophila)"""			11306823, 16951688	Standard	NM_020651		Approved		uc002sct.4	Q96FA3	OTTHUMG00000129511	ENST00000358912.4:c.612A>G	2.37:g.64323337T>C			Somatic					p.G204G	NM_020651.3	NP_065702.2	WXS	Illumina GAIIx	Phase_I	Q96FA3	PELI1_HUMAN			6	1054	-			204					Q96SM0|Q9GZY5|Q9HCX0	Silent	SNP	ENST00000358912.4	37	c.612A>G	CCDS1876.1																																																																																				0.438	PELI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251686.1	NM_020651		117	80	0	0	0	0.048971	0	117	80				
NUP210L	91181	broad.mit.edu	37	1	154067513	154067513	+	Silent	SNP	C	C	T			TCGA-AS-3777-01A-01D-0966-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b771fd10-af27-4da6-aa24-7ecc2d1474e0	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr1:154067513C>T	ENST00000368559.3	-	15	2156	c.2085G>A	c.(2083-2085)gcG>gcA	p.A695A	NUP210L_ENST00000271854.3_Silent_p.A695A	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	695					Sertoli cell development (GO:0060009)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			CTGTCTTCTCCGCATTCAATT	0.473																																						ENST00000368559.3																			0				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80						c.(2083-2085)gcG>gcA		nucleoporin 210kDa-like							86.0	80.0	82.0					1																	154067513		1845	4097	5942	SO:0001819	synonymous_variant	91181					integral to membrane		g.chr1:154067513C>T	AK125924	CCDS41399.1, CCDS53370.1	1q21.3	2008-02-05			ENSG00000143552	ENSG00000143552			29915	protein-coding gene	gene with protein product							Standard	NM_207308		Approved		uc001fdw.3	Q5VU65	OTTHUMG00000035852	ENST00000368559.3:c.2085G>A	1.37:g.154067513C>T			Somatic				NUP210L_ENST00000271854.3_Silent_p.A695A	p.A695A	NM_207308.2	NP_997191.2	WXS	Illumina GAIIx	Phase_I	Q5VU65	P210L_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)		15	2156	-	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		695					E7EP56|Q5T4L7|Q6ZRN1|Q6ZRT4|Q6ZU81|Q8NDI6|Q9UF31	Silent	SNP	ENST00000368559.3	37	c.2085G>A	CCDS41399.1																																																																																				0.473	NUP210L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087270.3	NM_207308		8	65	0	0	0	0.038147	0	8	65				
TECTA	7007	broad.mit.edu	37	11	120984322	120984322	+	Missense_Mutation	SNP	G	G	A	rs150098939	byFrequency	TCGA-AS-3777-01A-01D-0966-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b771fd10-af27-4da6-aa24-7ecc2d1474e0	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr11:120984322G>A	ENST00000392793.1	+	6	956	c.685G>A	c.(685-687)Gag>Aag	p.E229K	TECTA_ENST00000264037.2_Missense_Mutation_p.E229K			O75443	TECTA_HUMAN	tectorin alpha	229	NIDO. {ECO:0000255|PROSITE- ProRule:PRU00570}.				cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		AAGAACCCCCGAGATCGTGAA	0.478													G|||	2	0.000399361	0.0015	0.0	5008	,	,		17512	0.0		0.0	False		,,,				2504	0.0					ENST00000392793.1																		TECTA/TBCEL(2)	0				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						c.(685-687)Gag>Aag		tectorin alpha		G	LYS/GLU	4,4402	8.1+/-20.4	0,4,2199	61.0	63.0	63.0		685	5.2	1.0	11	dbSNP_134	63	0,8598		0,0,4299	yes	missense	TECTA	NM_005422.2	56	0,4,6498	AA,AG,GG		0.0,0.0908,0.0308	benign	229/2156	120984322	4,13000	2203	4299	6502	SO:0001583	missense	7007				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr11:120984322G>A	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.685G>A	11.37:g.120984322G>A	ENSP00000376543:p.Glu229Lys		Somatic				TECTA_ENST00000264037.2_Missense_Mutation_p.E229K	p.E229K			WXS	Illumina GAIIx	Phase_I	O75443	TECTA_HUMAN		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)	6	956	+	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)	229			NIDO.			Missense_Mutation	SNP	ENST00000392793.1	37	c.685G>A	CCDS8434.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	G	20.5	4.005473	0.74932	9.08E-4	0.0	ENSG00000109927	ENST00000392793;ENST00000264037	T;T	0.72167	-0.63;-0.63	5.2	5.2	0.72013	Nidogen, extracellular domain (3);	0.169550	0.50627	D	0.000108	T	0.68513	0.3009	L	0.59436	1.845	0.50813	D	0.999894	B	0.28820	0.224	B	0.25405	0.06	T	0.66064	-0.6016	10	0.37606	T	0.19	.	18.9316	0.92568	0.0:0.0:1.0:0.0	.	229	O75443	TECTA_HUMAN	K	229	ENSP00000376543:E229K;ENSP00000264037:E229K	ENSP00000264037:E229K	E	+	1	0	TECTA	120489532	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.629000	0.83207	2.691000	0.91804	0.655000	0.94253	GAG		0.478	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313850.1	NM_005422		5	149	0	0	0	0.014758	0	5	149				
ARNT	405	broad.mit.edu	37	1	150804293	150804293	+	Splice_Site	SNP	C	C	T			TCGA-AS-3777-01A-01D-0966-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b771fd10-af27-4da6-aa24-7ecc2d1474e0	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr1:150804293C>T	ENST00000358595.5	-	10	1156		c.e10+1		ARNT_ENST00000505755.1_Splice_Site|ARNT_ENST00000354396.2_Splice_Site|ARNT_ENST00000468970.1_5'UTR|ARNT_ENST00000515192.1_Splice_Site	NM_001197325.1|NM_001668.3|NM_178427.2	NP_001184254.1|NP_001659.1|NP_848514.1	P27540	ARNT_HUMAN	aryl hydrocarbon receptor nuclear translocator						cell differentiation (GO:0030154)|cellular response to hypoxia (GO:0071456)|embryonic placenta development (GO:0001892)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of glycolytic process (GO:0045821)|positive regulation of hormone biosynthetic process (GO:0046886)|positive regulation of protein sumoylation (GO:0033235)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	aryl hydrocarbon receptor activity (GO:0004874)|aryl hydrocarbon receptor binding (GO:0017162)|enhancer binding (GO:0035326)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|prostate(2)|skin(4)|stomach(1)	34	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.02)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211)			CACTTTCTTACCTGCTGGGGG	0.438			T	ETV6	AML																																	ENST00000358595.5				Dom	yes		1	1q21	405	T	aryl hydrocarbon receptor nuclear translocator			L	ETV6		AML		0				central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|prostate(2)|skin(4)|stomach(1)	34						c.e10+1		aryl hydrocarbon receptor nuclear translocator							58.0	60.0	59.0					1																	150804293		2203	4300	6503	SO:0001630	splice_region_variant	405				positive regulation of hormone biosynthetic process|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|response to hypoxia		aryl hydrocarbon receptor binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity	g.chr1:150804293C>T	AF001307	CCDS970.1, CCDS971.1, CCDS65641.1, CCDS65642.1	1q21	2013-05-21			ENSG00000143437	ENSG00000143437		"""Basic helix-loop-helix proteins"""	700	protein-coding gene	gene with protein product		126110					Standard	NM_001668		Approved	HIF-1beta, bHLHe2	uc001evr.2	P27540	OTTHUMG00000035011	ENST00000358595.5:c.955+1G>A	1.37:g.150804293C>T			Somatic				ARNT_ENST00000515192.1_Splice_Site|ARNT_ENST00000505755.1_Splice_Site|ARNT_ENST00000468970.1_5'UTR|ARNT_ENST00000354396.2_Splice_Site		NM_001197325.1|NM_001668.3|NM_178427.2	NP_001184254.1|NP_001659.1|NP_848514.1	WXS	Illumina GAIIx	Phase_I	P27540	ARNT_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.02)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211)		10	1156	-	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)							B2R9H1|C4AMA1|F8WAP6|Q59ED4|Q5QP39|Q8NDC7	Splice_Site	SNP	ENST00000358595.5	37		CCDS970.1	.	.	.	.	.	.	.	.	.	.	C	18.03	3.533461	0.64972	.	.	ENSG00000143437	ENST00000358595;ENST00000368975;ENST00000354396;ENST00000515192;ENST00000394700;ENST00000505755	.	.	.	5.0	5.0	0.66597	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.2947	0.90141	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ARNT	149070917	1.000000	0.71417	1.000000	0.80357	0.756000	0.42949	5.627000	0.67784	2.289000	0.77006	0.557000	0.71058	.		0.438	ARNT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000084741.2		Intron	5	63	0	0	0	0.014758	0	5	63				
MAX	4149	broad.mit.edu	37	14	65544756	65544756	+	Splice_Site	SNP	T	T	C			TCGA-AS-3777-01A-01D-0966-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b771fd10-af27-4da6-aa24-7ecc2d1474e0	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr14:65544756T>C	ENST00000358664.4	-	4	302		c.e4-2		MAX_ENST00000341653.2_Intron|MAX_ENST00000557277.1_Splice_Site|MAX_ENST00000557746.1_Splice_Site|MAX_ENST00000555667.1_Splice_Site|MAX_ENST00000555932.1_Intron|MAX_ENST00000556443.1_Splice_Site|MAX_ENST00000284165.6_Splice_Site|MAX_ENST00000555419.1_Splice_Site|MAX_ENST00000358402.4_Splice_Site|MAX_ENST00000556979.1_Splice_Site	NM_002382.4	NP_002373.3	P61244	MAX_HUMAN	MYC associated factor X						cellular response to peptide hormone stimulus (GO:0071375)|cellular response to starvation (GO:0009267)|negative regulation of gene expression (GO:0010629)|neuron apoptotic process (GO:0051402)|protein complex assembly (GO:0006461)|response to axon injury (GO:0048678)|response to insulin (GO:0032868)|retina development in camera-type eye (GO:0060041)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)|PML body (GO:0016605)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	17				all cancers(60;0.000776)|OV - Ovarian serous cystadenocarcinoma(108;0.00359)|BRCA - Breast invasive adenocarcinoma(234;0.00999)		CCGGGATGCCTGTGGCAATAT	0.498																																						ENST00000284165.6																			0				breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	17						c.e4-2		MYC associated factor X							91.0	80.0	84.0					14																	65544756		2203	4300	6503	SO:0001630	splice_region_variant	4149				transcription from RNA polymerase II promoter	cytoplasm|MLL1 complex	sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr14:65544756T>C		CCDS9770.1, CCDS9771.1, CCDS9772.1, CCDS9774.1, CCDS41965.1	14q23	2014-09-17	2005-02-08		ENSG00000125952	ENSG00000125952		"""Basic helix-loop-helix proteins"""	6913	protein-coding gene	gene with protein product		154950	"""MAX protein"""			1557420	Standard	NM_002382		Approved	bHLHd4, bHLHd5, bHLHd6, bHLHd7, bHLHd8	uc001xif.2	P61244	OTTHUMG00000142809	ENST00000358664.4:c.172-2A>G	14.37:g.65544756T>C			Somatic				MAX_ENST00000358402.4_Splice_Site|MAX_ENST00000358664.4_Splice_Site|MAX_ENST00000555419.1_Splice_Site|MAX_ENST00000555667.1_Splice_Site|MAX_ENST00000557277.1_Splice_Site|MAX_ENST00000555932.1_Intron|MAX_ENST00000557746.1_Splice_Site|MAX_ENST00000341653.2_Intron|MAX_ENST00000556443.1_Splice_Site|MAX_ENST00000556979.1_Splice_Site		NM_145113.1	NP_660088.1	WXS	Illumina GAIIx	Phase_I	P61244	MAX_HUMAN		all cancers(60;0.000776)|OV - Ovarian serous cystadenocarcinoma(108;0.00359)|BRCA - Breast invasive adenocarcinoma(234;0.00999)	4	320	-								A6NH73|A8K265|A8K4G4|A8K824|P25912|P52163|Q14803|Q96CY8	Splice_Site	SNP	ENST00000358664.4	37		CCDS9771.1	.	.	.	.	.	.	.	.	.	.	T	16.76	3.212460	0.58452	.	.	ENSG00000125952	ENST00000358402;ENST00000284165;ENST00000358664;ENST00000555419;ENST00000441116;ENST00000556979;ENST00000555667;ENST00000557746;ENST00000556443	.	.	.	5.18	5.18	0.71444	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.0085	0.64481	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	MAX	64614509	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.947000	0.87758	1.932000	0.55993	0.460000	0.39030	.		0.498	MAX-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286386.1	NM_197957	Intron	22	96	0	0	0	0.055883	0	22	96				
RP11-156P1.3	0	broad.mit.edu	37	17	45128792	45128792	+	RNA	SNP	G	G	T			TCGA-AS-3777-01A-01D-0966-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b771fd10-af27-4da6-aa24-7ecc2d1474e0	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr17:45128792G>T	ENST00000575173.1	-	0	418				LRRC37A17P_ENST00000570478.1_RNA																							AATTCAGGTTGTCAGAATGCA	0.373																																						ENST00000575173.1																			0																																																			101927060							g.chr17:45128792G>T																													17.37:g.45128792G>T			Somatic								WXS	Illumina GAIIx	Phase_I					0	418	-									RNA	SNP	ENST00000575173.1	37																																																																																						0.373	RP11-156P1.3-009	KNOWN	basic	lincRNA	processed_transcript	OTTHUMT00000440924.1			5	54	1	0	0.000602214	0.014758	0.000698569	5	54				
NID1	4811	broad.mit.edu	37	1	236212062	236212062	+	Silent	SNP	G	G	A	rs201727792		TCGA-AS-3777-01A-01D-0966-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b771fd10-af27-4da6-aa24-7ecc2d1474e0	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr1:236212062G>A	ENST00000264187.6	-	2	535	c.453C>T	c.(451-453)agC>agT	p.S151S	NID1_ENST00000366595.3_Silent_p.S151S	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	151	NIDO. {ECO:0000255|PROSITE- ProRule:PRU00570}.				basement membrane organization (GO:0071711)|cell-matrix adhesion (GO:0007160)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|positive regulation of cell-substrate adhesion (GO:0010811)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|cell periphery (GO:0071944)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|laminin binding (GO:0043236)|proteoglycan binding (GO:0043394)	p.S151S(1)		breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Urokinase(DB00013)	CAACCACCGCGCTACTAGGCT	0.577													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18425	0.0		0.0	False		,,,				2504	0.0					ENST00000264187.6																			1	Substitution - coding silent(1)	p.S151S(1)	large_intestine(1)	breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66						c.(451-453)agC>agT		nidogen 1	Becaplermin(DB00102)|Urokinase(DB00013)						64.0	62.0	63.0					1																	236212062		2203	4300	6503	SO:0001819	synonymous_variant	4811				cell-matrix adhesion	basement membrane	calcium ion binding	g.chr1:236212062G>A	BC045606	CCDS1608.1	1q43	2011-05-08	2005-06-02	2005-06-02	ENSG00000116962	ENSG00000116962			7821	protein-coding gene	gene with protein product		131390	"""nidogen (enactin)"""	NID		2471408, 7557988	Standard	NM_002508		Approved	entactin	uc001hxo.3	P14543	OTTHUMG00000040071	ENST00000264187.6:c.453C>T	1.37:g.236212062G>A			Somatic				NID1_ENST00000366595.3_Silent_p.S151S	p.S151S	NM_002508.2	NP_002499.2	WXS	Illumina GAIIx	Phase_I	P14543	NID1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		2	535	-	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	151			NIDO.		Q14942|Q59FL2|Q5TAF2|Q5TAF3|Q86XD7	Silent	SNP	ENST00000264187.6	37	c.453C>T	CCDS1608.1																																																																																				0.577	NID1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096647.2	NM_002508		9	66	0	0	0	0.047766	0	9	66				
RAB43	339122	broad.mit.edu	37	3	128840237	128840237	+	Silent	SNP	C	C	A			TCGA-AS-3777-01A-01D-0966-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b771fd10-af27-4da6-aa24-7ecc2d1474e0	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr3:128840237C>A	ENST00000315150.5	-	1	396	c.96G>T	c.(94-96)acG>acT	p.T32T	RP11-434H6.6_ENST00000608909.1_RNA|RAB43_ENST00000393307.1_Silent_p.T32T|RAB43_ENST00000393308.1_Silent_p.T32T|ISY1-RAB43_ENST00000418265.1_Intron|RAB43_ENST00000393304.1_Silent_p.T32T|RAB43_ENST00000393305.1_Silent_p.T32T|RAB43_ENST00000476465.1_Silent_p.T32T	NM_001204888.1|NM_198490.2	NP_001191817.1|NP_940892.1	Q86YS6	RAB43_HUMAN	RAB43, member RAS oncogene family	32					Golgi organization (GO:0007030)|GTP catabolic process (GO:0006184)|phagosome maturation (GO:0090382)|protein transport (GO:0015031)|retrograde transport, plasma membrane to Golgi (GO:0035526)|small GTPase mediated signal transduction (GO:0007264)|virion assembly (GO:0019068)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|phagocytic vesicle (GO:0045335)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			kidney(2)|liver(1)|lung(2)|skin(1)	6						GCACCACGCACGTCTTGCCCA	0.667																																						ENST00000315150.5																			0				kidney(2)|liver(1)|lung(2)|skin(1)	6						c.(94-96)acG>acT		RAB43, member RAS oncogene family							26.0	25.0	25.0					3																	128840237		2203	4300	6503	SO:0001819	synonymous_variant	339122				protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding	g.chr3:128840237C>A	AY166852	CCDS33850.1, CCDS56275.1	3q21.3	2010-03-30			ENSG00000172780	ENSG00000172780		"""RAB, member RAS oncogene"""	19983	protein-coding gene	gene with protein product						15018353	Standard	NM_198490		Approved	RAB41, RAB11B, ISY1	uc021xdp.1	Q86YS6	OTTHUMG00000137364	ENST00000315150.5:c.96G>T	3.37:g.128840237C>A			Somatic				RAB43_ENST00000476465.1_Silent_p.T32T|RAB43_ENST00000393308.1_Silent_p.T32T|RAB43_ENST00000393307.1_Silent_p.T32T|ISY1-RAB43_ENST00000418265.1_Intron|RAB43_ENST00000393305.1_Silent_p.T32T|RAB43_ENST00000393304.1_Silent_p.T32T	p.T32T	NM_001204888.1|NM_198490.2	NP_001191817.1|NP_940892.1	WXS	Illumina GAIIx	Phase_I	Q86YS6	RAB43_HUMAN			1	396	-			32					A8K4P9|E9PBQ0	Silent	SNP	ENST00000315150.5	37	c.96G>T	CCDS33850.1																																																																																				0.667	RAB43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000267849.1	XM_290714		9	19	1	0	0.00621372	0.058154	0.00693068	9	19				
ITGA5	3678	broad.mit.edu	37	12	54797447	54797447	+	Missense_Mutation	SNP	C	C	T			TCGA-AS-3777-01A-01D-0966-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b771fd10-af27-4da6-aa24-7ecc2d1474e0	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr12:54797447C>T	ENST00000293379.4	-	17	1999	c.1738G>A	c.(1738-1740)Gct>Act	p.A580T	RP11-753H16.5_ENST00000552785.1_RNA|RP11-753H16.3_ENST00000550474.1_RNA	NM_002205.2	NP_002196.2	P08648	ITA5_HUMAN	integrin, alpha 5 (fibronectin receptor, alpha polypeptide)	580					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-substrate adhesion (GO:0031589)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|memory (GO:0007613)|negative regulation of anoikis (GO:2000811)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|viral process (GO:0016032)|wound healing, spreading of epidermal cells (GO:0035313)	alphav-beta3 integrin-vitronectin complex (GO:0071062)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	metal ion binding (GO:0046872)|platelet-derived growth factor receptor binding (GO:0005161)|vascular endothelial growth factor receptor 2 binding (GO:0043184)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	34						TCCTCTCGAGCCCCATTCTGG	0.627																																						ENST00000293379.4																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	34						c.(1738-1740)Gct>Act		integrin, alpha 5 (fibronectin receptor, alpha polypeptide)							86.0	83.0	84.0					12																	54797447		2203	4300	6503	SO:0001583	missense	3678				angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells	alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle	platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding	g.chr12:54797447C>T		CCDS8880.1	12q11-q13	2010-03-23				ENSG00000161638		"""CD molecules"", ""Integrins"""	6141	protein-coding gene	gene with protein product		135620		FNRA		2454952	Standard	NM_002205		Approved	CD49e	uc001sga.3	P08648	OTTHUMG00000169841	ENST00000293379.4:c.1738G>A	12.37:g.54797447C>T	ENSP00000293379:p.Ala580Thr		Somatic				RP11-753H16.3_ENST00000550474.1_RNA|RP11-753H16.5_ENST00000552785.1_RNA	p.A580T	NM_002205.2	NP_002196.2	WXS	Illumina GAIIx	Phase_I	P08648	ITA5_HUMAN			17	1999	-			580					Q96HA5	Missense_Mutation	SNP	ENST00000293379.4	37	c.1738G>A	CCDS8880.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.687621	0.88639	.	.	ENSG00000161638	ENST00000293379	T	0.46063	0.88	5.22	4.32	0.51571	Integrin alpha-2 (1);	0.190561	0.45126	D	0.000384	T	0.43500	0.1250	L	0.29908	0.895	0.37377	D	0.911877	D	0.55172	0.97	P	0.53401	0.725	T	0.51116	-0.8746	10	0.49607	T	0.09	.	13.8101	0.63256	0.0:0.8451:0.1549:0.0	.	580	P08648	ITA5_HUMAN	T	580	ENSP00000293379:A580T	ENSP00000293379:A580T	A	-	1	0	ITGA5	53083714	1.000000	0.71417	0.991000	0.47740	0.936000	0.57629	5.192000	0.65115	1.323000	0.45263	0.561000	0.74099	GCT		0.627	ITGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406174.1			27	203	0	0	0	0.099896	0	27	203				
ATP9A	10079	broad.mit.edu	37	20	50226667	50226667	+	Missense_Mutation	SNP	G	G	C			TCGA-AS-3777-01A-01D-0966-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b771fd10-af27-4da6-aa24-7ecc2d1474e0	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr20:50226667G>C	ENST00000338821.5	-	24	2873	c.2609C>G	c.(2608-2610)cCt>cGt	p.P870R	ATP9A_ENST00000402822.1_Missense_Mutation_p.P749R|ATP9A_ENST00000311637.5_Missense_Mutation_p.P734R	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	870					phospholipid translocation (GO:0045332)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						TTGATAGAGAGGGACGGAGGC	0.423																																						ENST00000338821.5																			0				breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						c.(2608-2610)cCt>cGt		ATPase, class II, type 9A							127.0	113.0	117.0					20																	50226667		2203	4300	6503	SO:0001583	missense	10079				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr20:50226667G>C	AB014511	CCDS33489.1	20q13.2	2010-04-20	2007-09-19		ENSG00000054793	ENSG00000054793		"""ATPases / P-type"""	13540	protein-coding gene	gene with protein product		609126	"""ATPase, Class II, type 9A"""			9734811, 11015572	Standard	NM_006045		Approved	KIAA0611, ATPIIA	uc002xwg.1	O75110	OTTHUMG00000032751	ENST00000338821.5:c.2609C>G	20.37:g.50226667G>C	ENSP00000342481:p.Pro870Arg		Somatic				ATP9A_ENST00000311637.5_Missense_Mutation_p.P734R|ATP9A_ENST00000402822.1_Missense_Mutation_p.P749R	p.P870R	NM_006045.1	NP_006036.1	WXS	Illumina GAIIx	Phase_I	O75110	ATP9A_HUMAN			24	2873	-			870					E1P5Y3|E1P5Y4|Q5TFW5|Q5TFW6|Q5TFW9|Q6ZMF3|Q9NQK6|Q9NQK7	Missense_Mutation	SNP	ENST00000338821.5	37	c.2609C>G	CCDS33489.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.300594	0.81136	.	.	ENSG00000054793	ENST00000311637;ENST00000338821;ENST00000402822	T;T;T	0.70399	-0.48;-0.48;-0.48	4.88	4.88	0.63580	.	0.052502	0.85682	D	0.000000	T	0.72120	0.3421	L	0.53561	1.675	0.80722	D	1	P;P	0.36465	0.527;0.554	B;B	0.41088	0.25;0.347	T	0.75536	-0.3283	10	0.62326	D	0.03	-18.791	18.3951	0.90495	0.0:0.0:1.0:0.0	.	749;870	O75110-2;O75110	.;ATP9A_HUMAN	R	734;870;749	ENSP00000309086:P734R;ENSP00000342481:P870R;ENSP00000385875:P749R	ENSP00000309086:P734R	P	-	2	0	ATP9A	49660074	1.000000	0.71417	0.682000	0.30024	0.997000	0.91878	9.307000	0.96226	2.414000	0.81942	0.655000	0.94253	CCT		0.423	ATP9A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106494.1	NM_006045		9	88	0	0	0	0.047766	0	9	88				
ANKRD28	23243	broad.mit.edu	37	3	15726732	15726732	+	Splice_Site	SNP	C	C	A			TCGA-AS-3777-01A-01D-0966-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b771fd10-af27-4da6-aa24-7ecc2d1474e0	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr3:15726732C>A	ENST00000399451.2	-	21	2667		c.e21+1		ANKRD28_ENST00000383777.1_Splice_Site|ANKRD28_ENST00000497037.1_Splice_Site	NM_001195098.1|NM_001195099.1|NM_015199.3	NP_001182027.1|NP_001182028.1|NP_056014.2	O15084	ANR28_HUMAN	ankyrin repeat domain 28							nucleus (GO:0005634)				breast(2)|endometrium(1)|large_intestine(2)|prostate(1)	6						GTATACTTAACCATTGTAGCA	0.373																																						ENST00000399451.2																			0				breast(2)|endometrium(1)|large_intestine(2)|prostate(1)	6						c.e21+1		ankyrin repeat domain 28							149.0	137.0	141.0					3																	15726732		1960	4156	6116	SO:0001630	splice_region_variant	23243					nucleoplasm	protein binding	g.chr3:15726732C>A	AY367056	CCDS46769.1, CCDS74908.1	3p25.1	2013-01-10			ENSG00000206560	ENSG00000206560		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"", ""Ankyrin repeat domain containing"""	29024	protein-coding gene	gene with protein product	"""phosphatase interactor targeting K protein"", ""protein phosphatase 6 ankyrin repeat subunit A"", ""protein phosphatase 1, regulatory subunit 65"""	611122				9205841	Standard	NM_015199		Approved	KIAA0379, PITK, PP6-ARS-A, PPP1R65	uc003caj.1	O15084	OTTHUMG00000155379	ENST00000399451.2:c.2299+1G>T	3.37:g.15726732C>A			Somatic				ANKRD28_ENST00000383777.1_Splice_Site|ANKRD28_ENST00000497037.1_Splice_Site		NM_001195098.1|NM_001195099.1|NM_015199.3	NP_001182027.1|NP_001182028.1|NP_056014.2	WXS	Illumina GAIIx	Phase_I	O15084	ANR28_HUMAN			21	2667	-								B4DES5|Q1WWL4|Q29RW6|Q3B857|Q6ULS0|Q6ZT57	Splice_Site	SNP	ENST00000399451.2	37		CCDS46769.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.731918	0.89390	.	.	ENSG00000206560	ENST00000399451;ENST00000383777;ENST00000412318	.	.	.	5.77	5.77	0.91146	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.0007	0.97408	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ANKRD28	15701736	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.818000	0.86416	2.726000	0.93360	0.650000	0.86243	.		0.373	ANKRD28-003	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339758.1	NM_015199	Intron	40	273	1	0	2.40579e-17	0.086207	3.1008e-17	40	273				
MYH7	4625	broad.mit.edu	37	14	23887583	23887583	+	Silent	SNP	C	C	T	rs144465613	byFrequency	TCGA-AS-3777-01A-01D-0966-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b771fd10-af27-4da6-aa24-7ecc2d1474e0	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr14:23887583C>T	ENST00000355349.3	-	30	4167	c.4005G>A	c.(4003-4005)tcG>tcA	p.S1335S	MIR208B_ENST00000401172.1_RNA|CTD-2201G16.1_ENST00000557368.1_RNA	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1335					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)	p.S1335S(3)		NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		CATGCCGGGCCGACTGCAGTG	0.662													C|||	3	0.000599042	0.0023	0.0	5008	,	,		18907	0.0		0.0	False		,,,				2504	0.0					ENST00000355349.3																			3	Substitution - coding silent(3)	p.S1335S(3)	central_nervous_system(2)|lung(1)	NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137						c.(4003-4005)tcG>tcA		myosin, heavy chain 7, cardiac muscle, beta		C		9,4397	15.5+/-35.6	0,9,2194	35.0	34.0	34.0		4005	-9.9	0.2	14	dbSNP_134	34	0,8600		0,0,4300	no	coding-synonymous	MYH7	NM_000257.2		0,9,6494	TT,TC,CC		0.0,0.2043,0.0692		1335/1936	23887583	9,12997	2203	4300	6503	SO:0001819	synonymous_variant	4625				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr14:23887583C>T	M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"""Myosins / Myosin superfamily : Class II"""	7577	protein-coding gene	gene with protein product		160760	"""myopathy, distal 1"", ""myosin, heavy polypeptide 7, cardiac muscle, beta"""	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.4005G>A	14.37:g.23887583C>T			Somatic					p.S1335S	NM_000257.2	NP_000248.2	WXS	Illumina GAIIx	Phase_I	P12883	MYH7_HUMAN		GBM - Glioblastoma multiforme(265;0.00725)	30	4167	-	all_cancers(95;2.54e-05)		1335					A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Silent	SNP	ENST00000355349.3	37	c.4005G>A	CCDS9601.1																																																																																				0.662	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3	NM_000257		5	85	0	0	0	0.021553	0	5	85				
FREM2	341640	broad.mit.edu	37	13	39265811	39265811	+	Silent	SNP	C	C	T			TCGA-AS-3777-01A-01D-0966-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b771fd10-af27-4da6-aa24-7ecc2d1474e0	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr13:39265811C>T	ENST00000280481.7	+	1	4546	c.4330C>T	c.(4330-4332)Cta>Tta	p.L1444L		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	1444					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		AACAGACCTACTAAGCACTAG	0.473																																						ENST00000280481.7																			0				NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148						c.(4330-4332)Cta>Tta		FRAS1 related extracellular matrix protein 2							146.0	118.0	128.0					13																	39265811		2203	4300	6503	SO:0001819	synonymous_variant	341640				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr13:39265811C>T	BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.4330C>T	13.37:g.39265811C>T			Somatic					p.L1444L	NM_207361.4	NP_997244.3	WXS	Illumina GAIIx	Phase_I	Q5SZK8	FREM2_HUMAN		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)	1	4546	+		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)	1444					Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Silent	SNP	ENST00000280481.7	37	c.4330C>T	CCDS31960.1																																																																																				0.473	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361		20	177	0	0	0	0.069288	0	20	177				
QPCT	25797	broad.mit.edu	37	2	37586796	37586796	+	Missense_Mutation	SNP	C	C	T			TCGA-AS-3777-01A-01D-0966-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b771fd10-af27-4da6-aa24-7ecc2d1474e0	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr2:37586796C>T	ENST00000338415.3	+	3	499	c.341C>T	c.(340-342)cCc>cTc	p.P114L	QPCT_ENST00000537448.1_Missense_Mutation_p.P65L	NM_012413.3	NP_036545.1	Q16769	QPCT_HUMAN	glutaminyl-peptide cyclotransferase	114					cellular protein modification process (GO:0006464)|peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase (GO:0017186)	extracellular vesicular exosome (GO:0070062)	glutaminyl-peptide cyclotransferase activity (GO:0016603)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|stomach(2)	17		Ovarian(717;0.051)|all_hematologic(82;0.21)				AGTCAGACACCCTATGGGTAC	0.443																																						ENST00000338415.3																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|stomach(2)	17						c.(340-342)cCc>cTc		glutaminyl-peptide cyclotransferase							95.0	79.0	84.0					2																	37586796		2203	4300	6503	SO:0001583	missense	25797				peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase|proteolysis	extracellular region	acyltransferase activity|glutaminyl-peptide cyclotransferase activity|peptidase activity|zinc ion binding	g.chr2:37586796C>T	X71125	CCDS1790.1	2p22	2008-07-31	2008-07-31		ENSG00000115828	ENSG00000115828	2.3.2.5		9753	protein-coding gene	gene with protein product	"""glutaminyl cyclase"""	607065				7999256	Standard	NM_012413		Approved	QC, GCT	uc002rqg.3	Q16769	OTTHUMG00000100963	ENST00000338415.3:c.341C>T	2.37:g.37586796C>T	ENSP00000344829:p.Pro114Leu		Somatic				QPCT_ENST00000537448.1_Missense_Mutation_p.P65L	p.P114L	NM_012413.3	NP_036545.1	WXS	Illumina GAIIx	Phase_I	Q16769	QPCT_HUMAN			3	499	+		Ovarian(717;0.051)|all_hematologic(82;0.21)	114					Q16770|Q3KRG6|Q53TR4	Missense_Mutation	SNP	ENST00000338415.3	37	c.341C>T	CCDS1790.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.640023	0.87760	.	.	ENSG00000115828	ENST00000338415;ENST00000404976;ENST00000537448	T;T;T	0.32753	1.44;1.44;1.44	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.66528	0.2798	M	0.91196	3.185	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.74509	-0.3642	10	0.87932	D	0	-3.9293	19.4608	0.94916	0.0:1.0:0.0:0.0	.	65;114	Q16769-2;Q16769	.;QPCT_HUMAN	L	114;65;65	ENSP00000344829:P114L;ENSP00000385391:P65L;ENSP00000441606:P65L	ENSP00000344829:P114L	P	+	2	0	QPCT	37440300	1.000000	0.71417	0.972000	0.41901	0.710000	0.40934	7.668000	0.83897	2.587000	0.87381	0.655000	0.94253	CCC		0.443	QPCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218572.2			48	29	0	0	0	0.048971	0	48	29				
MNDA	4332	broad.mit.edu	37	1	158815659	158815659	+	Missense_Mutation	SNP	T	T	C	rs374060185		TCGA-AS-3777-01A-01D-0966-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b771fd10-af27-4da6-aa24-7ecc2d1474e0	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr1:158815659T>C	ENST00000368141.4	+	5	1114	c.853T>C	c.(853-855)Tct>Cct	p.S285P		NM_002432.1	NP_002423.1	P41218	MNDA_HUMAN	myeloid cell nuclear differentiation antigen	285	HIN-200. {ECO:0000255|PROSITE- ProRule:PRU00106}.				B cell receptor signaling pathway (GO:0050853)|cellular defense response (GO:0006968)|cellular response to DNA damage stimulus (GO:0006974)|negative regulation of B cell proliferation (GO:0030889)|positive regulation of apoptotic process (GO:0043065)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	all_hematologic(112;0.0378)					GGAAGCATCATCTGTGTCTGA	0.348																																						ENST00000368141.4																			0				NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65						c.(853-855)Tct>Cct		myeloid cell nuclear differentiation antigen		T	PRO/SER	0,4406		0,0,2203	73.0	76.0	75.0		853	-1.5	0.0	1		75	1,8599	1.2+/-3.3	0,1,4299	no	missense	MNDA	NM_002432.1	74	0,1,6502	CC,CT,TT		0.0116,0.0,0.0077	probably-damaging	285/408	158815659	1,13005	2203	4300	6503	SO:0001583	missense	4332				B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	g.chr1:158815659T>C	BC032319	CCDS1177.1	1q22	2008-02-05			ENSG00000163563	ENSG00000163563			7183	protein-coding gene	gene with protein product		159553				1644857, 7512843	Standard	NM_002432		Approved	PYHIN3	uc001fsz.1	P41218	OTTHUMG00000022776	ENST00000368141.4:c.853T>C	1.37:g.158815659T>C	ENSP00000357123:p.Ser285Pro		Somatic					p.S285P	NM_002432.1	NP_002423.1	WXS	Illumina GAIIx	Phase_I	P41218	MNDA_HUMAN			5	1114	+	all_hematologic(112;0.0378)		285			HIN-200.			Missense_Mutation	SNP	ENST00000368141.4	37	c.853T>C	CCDS1177.1	.	.	.	.	.	.	.	.	.	.	T	16.06	3.016095	0.54468	0.0	1.16E-4	ENSG00000163563	ENST00000368141	T	0.15952	2.38	4.28	-1.55	0.08558	HIN-200/IF120x (2);Nucleic acid-binding, OB-fold (1);	1.640470	0.03858	N	0.273478	T	0.18759	0.0450	M	0.73217	2.22	0.09310	N	1	D	0.76494	0.999	D	0.75020	0.985	T	0.06427	-1.0827	10	0.59425	D	0.04	-0.9067	1.6694	0.02808	0.1633:0.0984:0.3364:0.4018	.	285	P41218	MNDA_HUMAN	P	285	ENSP00000357123:S285P	ENSP00000357123:S285P	S	+	1	0	MNDA	157082283	0.000000	0.05858	0.000000	0.03702	0.353000	0.29299	-0.834000	0.04391	-0.056000	0.13221	0.533000	0.62120	TCT		0.348	MNDA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059069.1	NM_002432		5	129	0	0	0	0.021553	0	5	129				
SLC12A2	6558	broad.mit.edu	37	5	127486938	127486938	+	Missense_Mutation	SNP	C	C	T			TCGA-AS-3777-01A-01D-0966-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b771fd10-af27-4da6-aa24-7ecc2d1474e0	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr5:127486938C>T	ENST00000262461.2	+	14	2302	c.2113C>T	c.(2113-2115)Cgt>Tgt	p.R705C	SLC12A2_ENST00000343225.4_Missense_Mutation_p.R705C	NM_001046.2	NP_001037.1	P55011	S12A2_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 2	705					ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|branching involved in mammary gland duct morphogenesis (GO:0060444)|chloride transmembrane transport (GO:1902476)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|gamma-aminobutyric acid signaling pathway (GO:0007214)|hyperosmotic response (GO:0006972)|ion transport (GO:0006811)|mammary duct terminal end bud growth (GO:0060763)|multicellular organism growth (GO:0035264)|positive regulation of cell volume (GO:0045795)|potassium ion transport (GO:0006813)|sodium ion transport (GO:0006814)|transepithelial ammonium transport (GO:0070634)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ammonium transmembrane transporter activity (GO:0008519)|sodium:potassium:chloride symporter activity (GO:0008511)			breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		all_cancers(142;0.0972)|Prostate(80;0.151)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	Bumetanide(DB00887)|Potassium Chloride(DB00761)|Quinethazone(DB01325)	GTTAGGATGGCGTCCTGCATT	0.348																																						ENST00000262461.2																			0				breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						c.(2113-2115)Cgt>Tgt		solute carrier family 12 (sodium/potassium/chloride transporter), member 2	Bumetanide(DB00887)|Potassium Chloride(DB00761)						209.0	201.0	204.0					5																	127486938		2203	4300	6503	SO:0001583	missense	6558				potassium ion transport|sodium ion transport|transepithelial ammonium transport|transepithelial chloride transport	integral to plasma membrane|membrane fraction	ammonia transmembrane transporter activity|sodium:potassium:chloride symporter activity	g.chr5:127486938C>T		CCDS4144.1, CCDS58965.1	5q23.3	2014-06-13	2013-07-18		ENSG00000064651	ENSG00000064651		"""Solute carriers"""	10911	protein-coding gene	gene with protein product	"""bumetanide-sensitive sodium-(potassium)-chloride cotransporter 1"", ""basolateral Na-K-Cl symporter"", ""protein phosphatase 1, regulatory subunit 141"""	600840				7629105	Standard	NM_001256461		Approved	NKCC1, BSC, BSC2, PPP1R141	uc003kus.3	P55011	OTTHUMG00000128983	ENST00000262461.2:c.2113C>T	5.37:g.127486938C>T	ENSP00000262461:p.Arg705Cys		Somatic				SLC12A2_ENST00000343225.4_Missense_Mutation_p.R705C	p.R705C	NM_001046.2	NP_001037.1	WXS	Illumina GAIIx	Phase_I	P55011	S12A2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	14	2302	+		all_cancers(142;0.0972)|Prostate(80;0.151)	705					Q8N713|Q8WWH7	Missense_Mutation	SNP	ENST00000262461.2	37	c.2113C>T	CCDS4144.1	.	.	.	.	.	.	.	.	.	.	C	19.53	3.845853	0.71603	.	.	ENSG00000064651	ENST00000262461;ENST00000343225	D;D	0.99532	-6.1;-6.1	4.86	4.86	0.63082	Amino acid permease domain (1);	0.000000	0.85682	D	0.000000	D	0.99819	0.9920	H	0.98295	4.195	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.74674	0.984;0.984	D	0.96735	0.9542	10	0.87932	D	0	.	18.5665	0.91119	0.0:1.0:0.0:0.0	.	705;705	P55011-3;P55011	.;S12A2_HUMAN	C	705	ENSP00000262461:R705C;ENSP00000340878:R705C	ENSP00000262461:R705C	R	+	1	0	SLC12A2	127514837	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.339000	0.43965	2.715000	0.92844	0.655000	0.94253	CGT		0.348	SLC12A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250972.1	NM_001046		33	259	0	0	0	0.074837	0	33	259				
DSCAML1	57453	broad.mit.edu	37	11	117392010	117392010	+	Missense_Mutation	SNP	G	G	A			TCGA-AS-3777-01A-01D-0966-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b771fd10-af27-4da6-aa24-7ecc2d1474e0	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr11:117392010G>A	ENST00000321322.6	-	6	1229	c.1228C>T	c.(1228-1230)Cgc>Tgc	p.R410C	DSCAML1_ENST00000527706.1_Missense_Mutation_p.R140C	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	350	Ig-like C2-type 5.				axonogenesis (GO:0007409)|brain development (GO:0007420)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|dendrite self-avoidance (GO:0070593)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|homophilic cell adhesion (GO:0007156)|negative regulation of cell adhesion (GO:0007162)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		TCCGTGTTGCGATACCAGCGG	0.627																																						ENST00000321322.6																			0				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110						c.(1228-1230)Cgc>Tgc		Down syndrome cell adhesion molecule like 1							90.0	76.0	81.0					11																	117392010		2201	4296	6497	SO:0001583	missense	57453				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity	g.chr11:117392010G>A		CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	14656	protein-coding gene	gene with protein product		611782				11453658	Standard	NM_020693		Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.1228C>T	11.37:g.117392010G>A	ENSP00000315465:p.Arg410Cys		Somatic				DSCAML1_ENST00000527706.1_Missense_Mutation_p.R140C	p.R410C	NM_020693.2	NP_065744.2	WXS	Illumina GAIIx	Phase_I	Q8TD84	DSCL1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)	6	1229	-	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)	350			Ig-like C2-type 5.		Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Missense_Mutation	SNP	ENST00000321322.6	37	c.1228C>T	CCDS8384.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.237731	0.79800	.	.	ENSG00000177103	ENST00000527706;ENST00000321322;ENST00000446508	T;T	0.34667	1.35;1.35	4.67	4.67	0.58626	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.71787	0.3381	H	0.95079	3.62	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.988;0.994	T	0.82180	-0.0585	9	0.87932	D	0	.	17.7518	0.88436	0.0:0.0:1.0:0.0	.	140;350	G3V1B5;Q8TD84	.;DSCL1_HUMAN	C	140;410;117	ENSP00000434335:R140C;ENSP00000315465:R410C	ENSP00000315465:R410C	R	-	1	0	DSCAML1	116897220	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.371000	0.66150	2.417000	0.82017	0.609000	0.83330	CGC		0.627	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392907.2	NM_020693		82	136	0	0	0	0.048971	0	82	136				
MYO16	23026	broad.mit.edu	37	13	109379873	109379873	+	Missense_Mutation	SNP	C	C	T	rs201650171		TCGA-AS-3777-01A-01D-0966-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b771fd10-af27-4da6-aa24-7ecc2d1474e0	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr13:109379873C>T	ENST00000357550.2	+	3	424	c.383C>T	c.(382-384)aCg>aTg	p.T128M	MYO16_ENST00000356711.2_Missense_Mutation_p.T128M|MYO16_ENST00000251041.5_Missense_Mutation_p.T128M	NM_001198950.1	NP_001185879.1			myosin XVI									p.T128M(1)		NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			GACTTCTGGACGCCCATGCAC	0.418													.|||	1	0.000199681	0.0	0.0	5008	,	,		19002	0.001		0.0	False		,,,				2504	0.0					ENST00000356711.2																			1	Substitution - Missense(1)	p.T128M(1)	endometrium(1)	NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121						c.(382-384)aCg>aTg		myosin XVI							210.0	185.0	193.0					13																	109379873		2203	4300	6503	SO:0001583	missense	23026				cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity	g.chr13:109379873C>T		CCDS32008.1, CCDS73598.1	13q33.3	2014-06-12			ENSG00000041515	ENSG00000041515		"""Myosins / Myosin superfamily : Class XVI"", ""Ankyrin repeat domain containing"""	29822	protein-coding gene	gene with protein product	"""neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 3"", ""protein phosphatase 1, regulatory subunit 107"""	615479				11588169, 17029291, 21946561	Standard	NM_001198950		Approved	MYR8, KIAA0865, Myo16b, NYAP3, PPP1R107	uc001vqt.1	Q9Y6X6	OTTHUMG00000017333	ENST00000357550.2:c.383C>T	13.37:g.109379873C>T	ENSP00000350160:p.Thr128Met		Somatic				MYO16_ENST00000357550.2_Missense_Mutation_p.T128M|MYO16_ENST00000251041.5_Missense_Mutation_p.T128M	p.T128M	NM_015011.1	NP_055826.1	WXS	Illumina GAIIx	Phase_I	Q9Y6X6	MYO16_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)		4	509	+	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		128						Missense_Mutation	SNP	ENST00000357550.2	37	c.383C>T	CCDS32008.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	19.24	3.788984	0.70337	.	.	ENSG00000041515	ENST00000356711;ENST00000397258;ENST00000357550;ENST00000251041	T;T;T	0.75154	-0.91;-0.91;-0.91	4.68	4.68	0.58851	Ankyrin repeat-containing domain (4);	0.200080	0.23353	U	0.049115	D	0.90752	0.7097	H	0.96691	3.865	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.74674	0.939;0.984	D	0.93997	0.7272	9	.	.	.	.	16.9776	0.86317	0.0:1.0:0.0:0.0	.	128;128	Q9Y6X6-2;Q9Y6X6	.;MYO16_HUMAN	M	128	ENSP00000349145:T128M;ENSP00000350160:T128M;ENSP00000251041:T128M	.	T	+	2	0	MYO16	108177874	1.000000	0.71417	0.966000	0.40874	0.704000	0.40688	6.738000	0.74822	2.310000	0.77875	0.462000	0.41574	ACG		0.418	MYO16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045746.1	NM_015011		25	125	0	0	0	0.076483	0	25	125				
ARHGAP25	9938	broad.mit.edu	37	2	69046326	69046326	+	Missense_Mutation	SNP	G	G	A			TCGA-AS-3777-01A-01D-0966-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b771fd10-af27-4da6-aa24-7ecc2d1474e0	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr2:69046326G>A	ENST00000295381.3	+	9	1491	c.1072G>A	c.(1072-1074)Gat>Aat	p.D358N	ARHGAP25_ENST00000409030.3_Missense_Mutation_p.D351N|ARHGAP25_ENST00000409202.3_Missense_Mutation_p.D359N|ARHGAP25_ENST00000479844.1_Missense_Mutation_p.D52N|ARHGAP25_ENST00000467265.1_Missense_Mutation_p.D319N|ARHGAP25_ENST00000409220.1_Missense_Mutation_p.D352N|ARHGAP25_ENST00000497079.1_Missense_Mutation_p.D352N	NM_001007231.2	NP_001007232.2	P42331	RHG25_HUMAN	Rho GTPase activating protein 25	358					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						CAAGTCCAAGGATATACCCCT	0.498																																						ENST00000295381.3																			0				breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						c.(1072-1074)Gat>Aat		Rho GTPase activating protein 25							145.0	155.0	151.0					2																	69046326		2203	4300	6503	SO:0001583	missense	9938				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr2:69046326G>A	D29642	CCDS33214.1, CCDS46312.1, CCDS33214.2, CCDS54363.1, CCDS54364.1	2p13.3	2013-01-10			ENSG00000163219	ENSG00000163219		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	28951	protein-coding gene	gene with protein product		610587				7584044	Standard	NM_001007231		Approved	KIAA0053	uc010fdg.3	P42331	OTTHUMG00000152621	ENST00000295381.3:c.1072G>A	2.37:g.69046326G>A	ENSP00000295381:p.Asp358Asn		Somatic				ARHGAP25_ENST00000479844.1_Missense_Mutation_p.D52N|ARHGAP25_ENST00000409220.1_Missense_Mutation_p.D352N|ARHGAP25_ENST00000467265.1_Missense_Mutation_p.D319N|ARHGAP25_ENST00000497079.1_Missense_Mutation_p.D352N|ARHGAP25_ENST00000409030.3_Missense_Mutation_p.D351N|ARHGAP25_ENST00000409202.3_Missense_Mutation_p.D359N	p.D358N	NM_001007231.2	NP_001007232.2	WXS	Illumina GAIIx	Phase_I	P42331	RHG25_HUMAN			9	1491	+			358					A8K2Y1|B7Z498|E9PFQ7|G5E9G2|Q8IXQ2	Missense_Mutation	SNP	ENST00000295381.3	37	c.1072G>A		.	.	.	.	.	.	.	.	.	.	G	25.5	4.640632	0.87859	.	.	ENSG00000163219	ENST00000295381;ENST00000409202;ENST00000467265;ENST00000409030;ENST00000409220;ENST00000482106;ENST00000497079;ENST00000543533;ENST00000479844	T;T;T;T;T;T;T	0.25912	2.6;2.6;2.3;2.6;2.6;2.54;1.77	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	T	0.37839	0.1018	N	0.19112	0.55	0.80722	D	1	D;D;D;D;D;P	0.89917	1.0;1.0;1.0;1.0;1.0;0.94	D;D;D;D;D;P	0.87578	0.972;0.995;0.995;0.995;0.998;0.76	T	0.19063	-1.0317	10	0.51188	T	0.08	.	18.0845	0.89453	0.0:0.0:1.0:0.0	.	319;359;352;351;352;358	E9PFQ7;P42331-4;G5E9G2;P42331-3;P42331-2;P42331	.;.;.;.;.;RHG25_HUMAN	N	358;359;319;351;352;352;352;343;52	ENSP00000295381:D358N;ENSP00000386911:D359N;ENSP00000420583:D319N;ENSP00000386863:D351N;ENSP00000386241:D352N;ENSP00000417139:D352N;ENSP00000417467:D52N	ENSP00000295381:D358N	D	+	1	0	ARHGAP25	68899830	1.000000	0.71417	1.000000	0.80357	0.689000	0.40095	6.673000	0.74482	2.817000	0.96982	0.563000	0.77884	GAT		0.498	ARHGAP25-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_014882		8	285	0	0	0	0.047766	0	8	285				
TUBB8P7	197331	broad.mit.edu	37	16	90162340	90162340	+	RNA	SNP	C	C	T	rs138169571	byFrequency	TCGA-AS-3777-01A-01D-0966-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b771fd10-af27-4da6-aa24-7ecc2d1474e0	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr16:90162340C>T	ENST00000564451.1	+	0	1693				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7									p.R358W(1)									CATCCCACTCCGGGGGCTAAA	0.478													.|||	307	0.0613019	0.0461	0.0735	5008	,	,		21594	0.0268		0.0795	False		,,,				2504	0.09					ENST00000564451.1																			1	Substitution - Missense(1)	p.R358W(1)	stomach(1)																																																197331							g.chr16:90162340C>T			16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90162340C>T			Somatic				TUBB8P7_ENST00000567960.1_RNA				WXS	Illumina GAIIx	Phase_I					0	1693	+									RNA	SNP	ENST00000564451.1	37																																																																																						0.478	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	NG_002334		7	283	0	0	0	0.069234	0	7	283				
MT-CO3	4514	broad.mit.edu	37	M	9384	9384	+	Missense_Mutation	SNP	G	G	A			TCGA-AS-3777-01A-01D-0966-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b771fd10-af27-4da6-aa24-7ecc2d1474e0	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chrM:9384G>A	ENST00000362079.2	+	1	178	c.178G>A	c.(178-180)Gat>Aat	p.D60N	MT-TS1_ENST00000387416.2_RNA|MT-ND4_ENST00000361381.2_5'Flank|MT-TR_ENST00000387439.1_RNA|MT-TS2_ENST00000387449.1_RNA|MT-TL2_ENST00000387456.1_RNA|MT-TD_ENST00000387419.1_RNA|MT-TK_ENST00000387421.1_RNA|MT-TH_ENST00000387441.1_RNA|MT-ND5_ENST00000361567.2_5'Flank|MT-ND3_ENST00000361227.2_5'Flank|MT-TG_ENST00000387429.1_RNA|MT-ND4L_ENST00000361335.1_5'Flank			P00414	COX3_HUMAN	mitochondrially encoded cytochrome c oxidase III	60					aerobic electron transport chain (GO:0019646)|cellular metabolic process (GO:0044237)|respiratory chain complex IV assembly (GO:0008535)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|respiratory chain complex IV (GO:0045277)	cytochrome-c oxidase activity (GO:0004129)			breast(1)|endometrium(10)|kidney(14)|lung(1)|urinary_tract(1)	27						AATGGTGGCGCGATGTAACAC	0.458																																						ENST00000362079.2																			0				breast(1)|endometrium(10)|kidney(14)|lung(1)|urinary_tract(1)	27						c.(178-180)Gat>Aat		mitochondrially encoded cytochrome c oxidase III																																				SO:0001583	missense	4514							g.chrM:9384G>A			mitochondria	2012-11-16	2005-02-15	2005-02-16	ENSG00000198938	ENSG00000198938		"""Mitochondrial respiratory chain complex / Complex IV"""	7422	protein-coding gene	gene with protein product		516050	"""cytochrome c oxidase III"""	MTCO3			Standard			Approved	COX3, COIII, CO3		P00414		ENST00000362079.2:c.178G>A	M.37:g.9384G>A	ENSP00000354982:p.Asp60Asn		Somatic					p.60_60insN			WXS	Illumina GAIIx	Phase_I					1	178	+								Q14Y83	Missense_Mutation	SNP	ENST00000362079.2	37	c.178G>A																																																																																					0.458	MT-CO3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024032		5	148	0	0	0	0.021553	0	5	148				
MYH2	4620	broad.mit.edu	37	17	10435042	10435042	+	Missense_Mutation	SNP	G	G	A			TCGA-AS-3777-01A-01D-0966-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b771fd10-af27-4da6-aa24-7ecc2d1474e0	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr17:10435042G>A	ENST00000245503.5	-	22	2989	c.2605C>T	c.(2605-2607)Ctt>Ttt	p.L869F	RP11-799N11.1_ENST00000399342.2_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.L869F|MYH2_ENST00000532183.2_Intron|RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	869					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						GACTTGGCAAGTTCGTCTTTA	0.423																																						ENST00000245503.5																			0				NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						c.(2605-2607)Ctt>Ttt		myosin, heavy chain 2, skeletal muscle, adult							142.0	138.0	139.0					17																	10435042		2203	4300	6503	SO:0001583	missense	4620				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10435042G>A		CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"""Myosins / Myosin superfamily : Class II"""	7572	protein-coding gene	gene with protein product		160740	"""myosin, heavy polypeptide 2, skeletal muscle, adult"", ""inclusion body myopathy 3, autosomal dominant"""	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.2605C>T	17.37:g.10435042G>A	ENSP00000245503:p.Leu869Phe		Somatic				MYH2_ENST00000397183.2_Missense_Mutation_p.L869F|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|MYH2_ENST00000532183.1_Intron	p.L869F	NM_017534.5	NP_060004.3	WXS	Illumina GAIIx	Phase_I	Q9UKX2	MYH2_HUMAN			22	2989	-			869					A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Missense_Mutation	SNP	ENST00000245503.5	37	c.2605C>T	CCDS11156.1	.	.	.	.	.	.	.	.	.	.	G	18.67	3.672800	0.67928	.	.	ENSG00000125414	ENST00000245503;ENST00000397183	D;D	0.85258	-1.96;-1.96	4.71	4.71	0.59529	.	0.000000	0.35378	U	0.003247	D	0.92309	0.7560	M	0.83118	2.625	0.39956	D	0.974606	D	0.57899	0.981	D	0.65773	0.938	D	0.93060	0.6473	10	0.48119	T	0.1	.	17.8355	0.88694	0.0:0.0:1.0:0.0	.	869	Q9UKX2	MYH2_HUMAN	F	869	ENSP00000245503:L869F;ENSP00000380367:L869F	ENSP00000245503:L869F	L	-	1	0	MYH2	10375767	0.992000	0.36948	0.125000	0.21846	0.957000	0.61999	3.097000	0.50251	2.447000	0.82792	0.561000	0.74099	CTT		0.423	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534		9	184	0	0	0	0.058154	0	9	184				
ALG13	79868	broad.mit.edu	37	X	111002972	111002972	+	Silent	SNP	G	G	A			TCGA-AS-3777-01A-01D-0966-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b771fd10-af27-4da6-aa24-7ecc2d1474e0	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chrX:111002972G>A	ENST00000394780.3	+	27	3171	c.3159G>A	c.(3157-3159)ccG>ccA	p.P1053P	ALG13_ENST00000251943.4_Silent_p.P870P|ALG13_ENST00000470971.1_3'UTR	NM_001099922.2|NM_001257231.1	NP_001093392.1|NP_001244160.1	Q9NP73	ALG13_HUMAN	ALG13, UDP-N-acetylglucosaminyltransferase subunit	1053					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|lipid glycosylation (GO:0030259)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)	carbohydrate binding (GO:0030246)|cysteine-type peptidase activity (GO:0008234)|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity (GO:0004577)|poly(A) RNA binding (GO:0044822)			endometrium(2)|lung(10)|skin(1)	13						ATACTTTTCCGAATGCTGATT	0.408																																						ENST00000394780.3																			0				endometrium(2)|lung(10)|skin(1)	13						c.(3157-3159)ccG>ccA		ALG13, UDP-N-acetylglucosaminyltransferase subunit							71.0	51.0	57.0					X																	111002972		1568	3581	5149	SO:0001819	synonymous_variant	79868				dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane	carbohydrate binding|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity	g.chrX:111002972G>A	AF220051	CCDS14559.1, CCDS55477.1, CCDS59173.1, CCDS76011.1, CCDS76012.1, CCDS76013.1	Xq23	2014-02-24	2013-02-21	2006-11-07	ENSG00000101901	ENSG00000101901	2.4.1.141	"""Tudor domain containing"", ""OTU domain containing"""	30881	protein-coding gene	gene with protein product	"""tudor domain containing 13"", ""N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase"""	300776	"""glycosyltransferase 28 domain containing 1"", ""chromosome X open reading frame 45"", ""asparagine-linked glycosylation 13 homolog (S. cerevisiae)"""	GLT28D1, CXorf45		12477932	Standard	NM_018466		Approved	MDS031, YGL047W, FLJ23018, TDRD13	uc011msy.2	Q9NP73	OTTHUMG00000022209	ENST00000394780.3:c.3159G>A	X.37:g.111002972G>A			Somatic				ALG13_ENST00000251943.4_Silent_p.P870P|ALG13_ENST00000470971.1_3'UTR	p.P1053P	NM_001099922.2|NM_001257231.1	NP_001093392.1|NP_001244160.1	WXS	Illumina GAIIx	Phase_I	Q9NP73	ALG13_HUMAN			27	3171	+			1053					B1AKD6|B1AKM1|B2R5L5|B7Z6J0|B7Z804|B7Z847|B7Z9A8|B7ZAJ1|B7ZB57|Q17RC3|Q5JXY9|Q9H5U8	Silent	SNP	ENST00000394780.3	37	c.3159G>A	CCDS55477.1																																																																																				0.408	ALG13-011	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272895.1	NM_018466		4	28	0	0	0	0.009096	0	4	28				
IGLV2-28	28812	broad.mit.edu	37	22	23006960	23006960	+	RNA	SNP	C	C	G	rs199838243	byFrequency	TCGA-AS-3777-01A-01D-0966-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b771fd10-af27-4da6-aa24-7ecc2d1474e0	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr22:23006960C>G	ENST00000385099.1	+	0	63																											GGGCTCTGCTCCTCCTCACCC	0.627																																						ENST00000385099.1																			0																																																			28812							g.chr22:23006960C>G																													22.37:g.23006960C>G			Somatic								WXS	Illumina GAIIx	Phase_I					0	63	+									RNA	SNP	ENST00000385099.1	37																																																																																						0.627	D86994.2-201	NOVEL	basic	miRNA	miRNA				4	21	0	0	0	0.009096	0	4	21				
CD2	914	broad.mit.edu	37	1	117303238	117303238	+	Missense_Mutation	SNP	G	G	T			TCGA-AS-3777-01A-01D-0966-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b771fd10-af27-4da6-aa24-7ecc2d1474e0	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr1:117303238G>T	ENST00000369478.3	+	3	705	c.597G>T	c.(595-597)gaG>gaT	p.E199D		NM_001767.3	NP_001758.2	P06729	CD2_HUMAN	CD2 molecule	199	Ig-like C2-type.				apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|heterotypic cell-cell adhesion (GO:0034113)|leukocyte migration (GO:0050900)|membrane raft polarization (GO:0001766)|natural killer cell activation (GO:0030101)|positive regulation of interferon-gamma secretion (GO:1902715)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of myeloid dendritic cell activation (GO:0030887)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of T cell differentiation (GO:0045580)|single organismal cell-cell adhesion (GO:0016337)|T cell activation (GO:0042110)	anchored component of plasma membrane (GO:0046658)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|cytoplasmic side of plasma membrane (GO:0009898)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|receptor binding (GO:0005102)			NS(1)|breast(2)|large_intestine(3)|liver(1)|lung(8)|skin(2)|stomach(1)	18	Lung SC(450;0.225)	all_cancers(81;3.15e-06)|Acute lymphoblastic leukemia(138;1.7e-08)|all_epithelial(167;8.38e-07)|all_lung(203;3.37e-06)|Lung NSC(69;2.31e-05)		Epithelial(280;6.71e-26)|OV - Ovarian serous cystadenocarcinoma(397;4.74e-24)|all cancers(265;1.93e-22)|Lung(183;0.0543)|Kidney(133;0.0813)|Colorectal(144;0.174)|KIRC - Kidney renal clear cell carcinoma(1967;0.176)|LUSC - Lung squamous cell carcinoma(189;0.189)|BRCA - Breast invasive adenocarcinoma(282;0.201)	Alefacept(DB00092)	CCAGTGTCGAGCCTGTCAGCT	0.557																																					NSCLC(14;263 555 26380 43512 51332)	ENST00000369478.3																			0				NS(1)|breast(2)|large_intestine(3)|liver(1)|lung(8)|skin(2)|stomach(1)	18						c.(595-597)gaG>gaT		CD2 molecule	Alefacept(DB00092)						80.0	71.0	74.0					1																	117303238		2203	4300	6503	SO:0001583	missense	914				blood coagulation|cell surface receptor linked signaling pathway|cell-cell adhesion|induction of apoptosis|leukocyte migration|membrane raft polarization|natural killer cell activation|positive regulation of myeloid dendritic cell activation|regulation of T cell differentiation|T cell activation	integral to plasma membrane	receptor activity	g.chr1:117303238G>T	BC033583	CCDS889.1	1p13	2013-01-11	2006-03-28		ENSG00000116824	ENSG00000116824		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	1639	protein-coding gene	gene with protein product		186990	"""CD2 antigen (p50), sheep red blood cell receptor"""	SRBC		2437578	Standard	NM_001767		Approved		uc001egu.4	P06729	OTTHUMG00000022750	ENST00000369478.3:c.597G>T	1.37:g.117303238G>T	ENSP00000358490:p.Glu199Asp		Somatic					p.E199D	NM_001767.3	NP_001758.2	WXS	Illumina GAIIx	Phase_I	P06729	CD2_HUMAN		Epithelial(280;6.71e-26)|OV - Ovarian serous cystadenocarcinoma(397;4.74e-24)|all cancers(265;1.93e-22)|Lung(183;0.0543)|Kidney(133;0.0813)|Colorectal(144;0.174)|KIRC - Kidney renal clear cell carcinoma(1967;0.176)|LUSC - Lung squamous cell carcinoma(189;0.189)|BRCA - Breast invasive adenocarcinoma(282;0.201)	3	705	+	Lung SC(450;0.225)	all_cancers(81;3.15e-06)|Acute lymphoblastic leukemia(138;1.7e-08)|all_epithelial(167;8.38e-07)|all_lung(203;3.37e-06)|Lung NSC(69;2.31e-05)	199			Ig-like C2-type.		Q96TE5	Missense_Mutation	SNP	ENST00000369478.3	37	c.597G>T	CCDS889.1	.	.	.	.	.	.	.	.	.	.	G	7.063	0.566757	0.13560	.	.	ENSG00000116824	ENST00000369478	T	0.24723	1.84	5.13	-9.09	0.00717	Immunoglobulin C2-set (1);Immunoglobulin-like fold (1);	2.019570	0.02240	N	0.065691	T	0.04137	0.0115	N	0.24115	0.695	0.19300	N	0.999976	B;B	0.23128	0.08;0.015	B;B	0.23574	0.047;0.024	T	0.17868	-1.0355	10	0.62326	D	0.03	1.3583	1.3779	0.02224	0.4495:0.2047:0.1473:0.1985	.	199;199	B4DVN2;P06729	.;CD2_HUMAN	D	199	ENSP00000358490:E199D	ENSP00000358490:E199D	E	+	3	2	CD2	117104761	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.908000	0.01587	-1.554000	0.01700	-0.150000	0.13652	GAG		0.557	CD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059039.2	NM_001767		4	39	1	0	0.00909568	0.009096	0.00995376	4	39				
AHNAK	79026	broad.mit.edu	37	11	62291443	62291443	+	Missense_Mutation	SNP	G	G	C			TCGA-AS-3777-01A-01D-0966-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b771fd10-af27-4da6-aa24-7ecc2d1474e0	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr11:62291443G>C	ENST00000378024.4	-	5	10720	c.10446C>G	c.(10444-10446)ttC>ttG	p.F3482L	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	3482					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CAGACACACTGAATTTGGGCA	0.453																																						ENST00000378024.4																			0				NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(10444-10446)ttC>ttG		AHNAK nucleoprotein							116.0	112.0	113.0					11																	62291443		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62291443G>C	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.10446C>G	11.37:g.62291443G>C	ENSP00000367263:p.Phe3482Leu		Somatic				AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	p.F3482L	NM_001620.1	NP_001611.1	WXS	Illumina GAIIx	Phase_I	Q09666	AHNK_HUMAN			5	10720	-		Melanoma(852;0.155)	3482					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.10446C>G	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	g	6.102	0.387035	0.11581	.	.	ENSG00000124942	ENST00000378024	T	0.01572	4.76	4.51	-5.87	0.02297	.	.	.	.	.	T	0.05273	0.0140	L	0.52573	1.65	0.25647	N	0.986134	D	0.63880	0.993	D	0.73708	0.981	T	0.00527	-1.1688	9	0.20519	T	0.43	.	14.5003	0.67716	0.7933:0.0:0.2067:0.0	.	3482	Q09666	AHNK_HUMAN	L	3482	ENSP00000367263:F3482L	ENSP00000367263:F3482L	F	-	3	2	AHNAK	62048019	0.000000	0.05858	0.004000	0.12327	0.008000	0.06430	-1.148000	0.03185	-1.335000	0.02241	-0.410000	0.06199	TTC		0.453	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		45	173	0	0	0	0.039052	0	45	173				
BCRP7	100133163	broad.mit.edu	37	22	18845995	18845995	+	3'UTR	SNP	T	T	C			TCGA-AS-3777-01A-01D-0966-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b771fd10-af27-4da6-aa24-7ecc2d1474e0	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr22:18845995T>C	ENST00000412938.1	+	0	3353																											CATCCCGTCCTGCGCAGGCCG	0.592																																						ENST00000412938.1																			0																																																	SO:0001624	3_prime_UTR_variant	100133163							g.chr22:18845995T>C																												ENST00000412938.1:c.*3350T>C	22.37:g.18845995T>C			Somatic								WXS	Illumina GAIIx	Phase_I					0	3353	+									RNA	SNP	ENST00000412938.1	37																																																																																						0.592	AC008132.13-002	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000471615.1			6	60	0	0	0	0.047766	0	6	60				
ARMC5	79798	broad.mit.edu	37	16	31476071	31476071	+	Missense_Mutation	SNP	A	A	C			TCGA-AS-3777-01A-01D-0966-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b771fd10-af27-4da6-aa24-7ecc2d1474e0	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr16:31476071A>C	ENST00000563544.1	+	5	2273	c.1727A>C	c.(1726-1728)aAc>aCc	p.N576T	ARMC5_ENST00000457010.2_Missense_Mutation_p.N576T|ARMC5_ENST00000408912.3_Missense_Mutation_p.N671T|ARMC5_ENST00000538189.1_Missense_Mutation_p.N608T|ARMC5_ENST00000268314.4_Missense_Mutation_p.N576T|ARMC5_ENST00000412665.2_Missense_Mutation_p.N220T			Q96C12	ARMC5_HUMAN	armadillo repeat containing 5	576										central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						CTCACCTGCAACCCTGCCTGC	0.721																																						ENST00000457010.2																			0				central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						c.(1726-1728)aAc>aCc		armadillo repeat containing 5							12.0	14.0	14.0					16																	31476071		2130	4238	6368	SO:0001583	missense	79798						binding	g.chr16:31476071A>C	AY217348	CCDS42155.1, CCDS45472.1, CCDS73874.1	16p11	2013-02-14			ENSG00000140691	ENSG00000140691		"""Armadillo repeat containing"""	25781	protein-coding gene	gene with protein product		615549					Standard	NM_024742		Approved	FLJ13063	uc002ecc.3	Q96C12	OTTHUMG00000176618	ENST00000563544.1:c.1727A>C	16.37:g.31476071A>C	ENSP00000456877:p.Asn576Thr		Somatic				ARMC5_ENST00000563544.1_Missense_Mutation_p.N576T|ARMC5_ENST00000412665.2_Missense_Mutation_p.N220T|ARMC5_ENST00000538189.1_Missense_Mutation_p.N608T|ARMC5_ENST00000408912.3_Missense_Mutation_p.N671T|ARMC5_ENST00000268314.4_Missense_Mutation_p.N576T	p.N576T	NM_024742.2	NP_079018.1	WXS	Illumina GAIIx	Phase_I	Q96C12	ARMC5_HUMAN			4	2428	+			576					Q86WM9|Q9H7P8|Q9H925	Missense_Mutation	SNP	ENST00000563544.1	37	c.1727A>C	CCDS45472.1	.	.	.	.	.	.	.	.	.	.	A	29.6	5.020639	0.93462	.	.	ENSG00000140691	ENST00000408912;ENST00000538189;ENST00000268314;ENST00000457010;ENST00000412665	T;T;T;T;T	0.23552	1.9;1.9;1.9;1.9;1.9	5.71	5.71	0.89125	Armadillo-like helical (1);Armadillo-type fold (1);	0.093397	0.64402	D	0.000001	T	0.45716	0.1356	L	0.53249	1.67	0.43032	D	0.994608	D;D;D;D;D	0.89917	0.999;0.999;1.0;0.998;0.999	D;D;D;D;D	0.71870	0.961;0.943;0.975;0.943;0.964	T	0.43956	-0.9359	10	0.87932	D	0	-19.6247	13.9395	0.64046	1.0:0.0:0.0:0.0	.	608;608;671;576;576	B4DH27;F5H156;B4DIU9;Q96C12;Q96C12-4	.;.;.;ARMC5_HUMAN;.	T	671;608;576;576;220	ENSP00000386125:N671T;ENSP00000443995:N608T;ENSP00000268314:N576T;ENSP00000399561:N576T;ENSP00000400183:N220T	ENSP00000268314:N576T	N	+	2	0	ARMC5	31383572	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	4.922000	0.63404	2.184000	0.69523	0.383000	0.25322	AAC		0.721	ARMC5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432847.1	NM_024742		4	28	0	0	0	0.058154	0	4	28				
TFRC	7037	broad.mit.edu	37	3	195778819	195778819	+	Missense_Mutation	SNP	C	C	A			TCGA-AS-3777-01A-01D-0966-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b771fd10-af27-4da6-aa24-7ecc2d1474e0	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr3:195778819C>A	ENST00000360110.4	-	19	2446	c.2277G>T	c.(2275-2277)gaG>gaT	p.E759D	TFRC_ENST00000420415.1_Missense_Mutation_p.E678D|TFRC_ENST00000540528.1_3'UTR|TFRC_ENST00000535031.1_Missense_Mutation_p.E477D|TFRC_ENST00000392396.3_Missense_Mutation_p.E759D	NM_001128148.1	NP_001121620.1	P02786	TFR1_HUMAN	transferrin receptor	759	Ligand-binding.				cellular iron ion homeostasis (GO:0006879)|iron ion import (GO:0097286)|osteoclast differentiation (GO:0030316)|positive regulation of bone resorption (GO:0045780)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|coated pit (GO:0005905)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)|vesicle (GO:0031982)	double-stranded RNA binding (GO:0003725)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|transferrin receptor activity (GO:0004998)			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_cancers(143;1.94e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.36e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.17e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00233)	Gallium nitrate(DB05260)	ACATTTAAAACTCATTGTCAA	0.438			T	BCL6	NHL																																	ENST00000360110.4				Dom	yes		3	3q29	7037	T	"""transferrin receptor (p90, CD71)"""			L	BCL6		NHL		0				NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(2275-2277)gaG>gaT		transferrin receptor							90.0	83.0	85.0					3																	195778819		2203	4300	6503	SO:0001583	missense	7037				cellular iron ion homeostasis|endocytosis|interspecies interaction between organisms|proteolysis|transferrin transport|transmembrane transport	coated pit|endosome|integral to plasma membrane|melanosome	peptidase activity|transferrin receptor activity	g.chr3:195778819C>A	X01060	CCDS3312.1	3q29	2013-09-19	2013-09-19		ENSG00000072274	ENSG00000072274		"""CD molecules"""	11763	protein-coding gene	gene with protein product		190010	"""transferrin receptor (p90, CD71)"""				Standard	NM_003234		Approved	CD71, TFR1, p90	uc003fwa.4	P02786	OTTHUMG00000155714	ENST00000360110.4:c.2277G>T	3.37:g.195778819C>A	ENSP00000353224:p.Glu759Asp		Somatic				TFRC_ENST00000392396.3_Missense_Mutation_p.E759D|TFRC_ENST00000420415.1_Missense_Mutation_p.E678D|TFRC_ENST00000540528.1_3'UTR|TFRC_ENST00000535031.1_Missense_Mutation_p.E477D	p.E759D	NM_001128148.1	NP_001121620.1	WXS	Illumina GAIIx	Phase_I	P02786	TFR1_HUMAN	Epithelial(36;1.36e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.17e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00233)	19	2446	-	all_cancers(143;1.94e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		759			Ligand-binding.		D3DXB0|Q1HE24|Q59G55|Q9UCN0|Q9UCU5|Q9UDF9|Q9UK21	Missense_Mutation	SNP	ENST00000360110.4	37	c.2277G>T	CCDS3312.1	.	.	.	.	.	.	.	.	.	.	C	12.11	1.838828	0.32513	.	.	ENSG00000072274	ENST00000360110;ENST00000420415;ENST00000392396;ENST00000535031	T;T;T;T	0.58060	0.76;0.81;0.76;0.36	6.06	0.294	0.15747	.	0.348037	0.35320	N	0.003282	T	0.37265	0.0997	L	0.52364	1.645	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.14309	-1.0477	10	0.44086	T	0.13	-10.9423	1.8738	0.03214	0.1306:0.3389:0.1286:0.4019	.	759	P02786	TFR1_HUMAN	D	759;678;759;477	ENSP00000353224:E759D;ENSP00000390133:E678D;ENSP00000376197:E759D;ENSP00000437753:E477D	ENSP00000353224:E759D	E	-	3	2	TFRC	197263216	0.812000	0.29077	0.992000	0.48379	0.983000	0.72400	-0.091000	0.11146	0.095000	0.17434	0.655000	0.94253	GAG		0.438	TFRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341346.1			56	123	1	0	3.89483e-19	0.048971	5.13409e-19	56	123				
CXorf22	170063	broad.mit.edu	37	X	35969399	35969399	+	Missense_Mutation	SNP	G	G	A			TCGA-AS-3777-01A-01D-0966-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b771fd10-af27-4da6-aa24-7ecc2d1474e0	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chrX:35969399G>A	ENST00000297866.5	+	5	874	c.808G>A	c.(808-810)Gca>Aca	p.A270T		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	270										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						AATTAAACATGCACGTGTATA	0.418																																						ENST00000297866.5																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						c.(808-810)Gca>Aca		chromosome X open reading frame 22							79.0	69.0	72.0					X																	35969399		2202	4300	6502	SO:0001583	missense	170063							g.chrX:35969399G>A	BC027936	CCDS14237.2	Xp21.1	2014-08-07			ENSG00000165164	ENSG00000165164			28546	protein-coding gene	gene with protein product						12477932	Standard	NM_152632		Approved	MGC34831	uc004ddj.3	Q6ZTR5	OTTHUMG00000021350	ENST00000297866.5:c.808G>A	X.37:g.35969399G>A	ENSP00000297866:p.Ala270Thr		Somatic					p.A270T	NM_152632.3	NP_689845.2	WXS	Illumina GAIIx	Phase_I	Q6ZTR5	CX022_HUMAN			5	874	+			270					Q5JRM8|Q8N6X8	Missense_Mutation	SNP	ENST00000297866.5	37	c.808G>A	CCDS14237.2	.	.	.	.	.	.	.	.	.	.	G	14.04	2.415844	0.42817	.	.	ENSG00000165164	ENST00000297866	T	0.16073	2.37	5.76	5.76	0.90799	.	0.221824	0.46145	D	0.000303	T	0.36026	0.0952	M	0.74881	2.28	0.21915	N	0.999474	D	0.69078	0.997	D	0.64506	0.926	T	0.30880	-0.9963	10	0.22109	T	0.4	-19.1526	11.0655	0.47972	0.0951:0.0:0.9049:0.0	.	270	Q6ZTR5	CX022_HUMAN	T	270	ENSP00000297866:A270T	ENSP00000297866:A270T	A	+	1	0	CXorf22	35879320	0.815000	0.29118	0.120000	0.21714	0.036000	0.12997	4.148000	0.58085	2.416000	0.81992	0.513000	0.50165	GCA		0.418	CXorf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056216.2	NM_152632		18	59	0	0	0	0.038395	0	18	59				
UVSSA	57654	broad.mit.edu	37	4	1377656	1377656	+	Missense_Mutation	SNP	A	A	C			TCGA-AS-3777-01A-01D-0966-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b771fd10-af27-4da6-aa24-7ecc2d1474e0	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr4:1377656A>C	ENST00000389851.4	+	13	2411	c.1964A>C	c.(1963-1965)tAc>tCc	p.Y655S	UVSSA_ENST00000507531.1_Missense_Mutation_p.Y655S|UVSSA_ENST00000512728.1_Missense_Mutation_p.Y206S|UVSSA_ENST00000511216.1_Missense_Mutation_p.Y655S|UVSSA_ENST00000511563.1_Missense_Mutation_p.Y206S	NM_020894.2	NP_065945.2	Q2YD98	UVSSA_HUMAN	UV-stimulated scaffold protein A	655					protein ubiquitination (GO:0016567)|response to UV (GO:0009411)|transcription-coupled nucleotide-excision repair (GO:0006283)	chromosome (GO:0005694)	RNA polymerase II core binding (GO:0000993)										AAGAGGAGGTACCCCAGCCTC	0.602																																						ENST00000389851.4																			0											c.(1963-1965)tAc>tCc		UV-stimulated scaffold protein A							116.0	98.0	104.0					4																	1377656		2203	4300	6503	SO:0001583	missense	57654							g.chr4:1377656A>C	BC021930	CCDS33938.1	4p16.3	2012-04-27	2012-04-27	2012-04-27		ENSG00000163945			29304	protein-coding gene	gene with protein product		614632	"""KIAA1530"""	KIAA1530		10819331, 22466610, 22466611, 22466612	Standard	NM_020894		Approved		uc003gde.4	Q2YD98		ENST00000389851.4:c.1964A>C	4.37:g.1377656A>C	ENSP00000374501:p.Tyr655Ser		Somatic				UVSSA_ENST00000511216.1_Missense_Mutation_p.Y655S|UVSSA_ENST00000511563.1_Missense_Mutation_p.Y206S|UVSSA_ENST00000507531.1_Missense_Mutation_p.Y655S|UVSSA_ENST00000512728.1_Missense_Mutation_p.Y206S	p.Y655S	NM_020894.2	NP_065945.2	WXS	Illumina GAIIx	Phase_I	Q2YD98	K1530_HUMAN			13	2411	+			655					A8K9E6|B2RU11|Q8WTX4|Q9P1Z8	Missense_Mutation	SNP	ENST00000389851.4	37	c.1964A>C	CCDS33938.1	.	.	.	.	.	.	.	.	.	.	A	14.36	2.510896	0.44660	.	.	ENSG00000163945	ENST00000511216;ENST00000389851;ENST00000507531;ENST00000511563;ENST00000512728	T;T;T;T;T	0.45668	1.37;1.37;1.37;0.89;0.89	5.04	0.778	0.18543	.	0.451013	0.26650	N	0.023211	T	0.31918	0.0812	L	0.32530	0.975	0.42251	D	0.991971	P	0.51653	0.947	P	0.47346	0.544	T	0.06427	-1.0827	10	0.49607	T	0.09	.	5.9476	0.19227	0.6744:0.0:0.0715:0.2541	.	655	Q2YD98	K1530_HUMAN	S	655;655;655;206;206	ENSP00000425130:Y655S;ENSP00000374501:Y655S;ENSP00000421741:Y655S;ENSP00000423340:Y206S;ENSP00000427701:Y206S	ENSP00000374501:Y655S	Y	+	2	0	KIAA1530	1367656	0.993000	0.37304	0.005000	0.12908	0.171000	0.22731	3.180000	0.50895	0.318000	0.23185	0.449000	0.29647	TAC		0.602	UVSSA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359480.1	NM_020894		11	100	0	0	0	0.039052	0	11	100				
KRT85	3891	broad.mit.edu	37	12	52760942	52760942	+	Missense_Mutation	SNP	C	C	T			TCGA-AS-3777-01A-01D-0966-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b771fd10-af27-4da6-aa24-7ecc2d1474e0	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr12:52760942C>T	ENST00000257901.3	-	1	323	c.248G>A	c.(247-249)cGc>cAc	p.R83H	KRT85_ENST00000544265.1_5'Flank	NM_002283.3	NP_002274.1	P78386	KRT85_HUMAN	keratin 85	83	Head.				epidermis development (GO:0008544)	extracellular space (GO:0005615)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(7)|liver(1)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	36	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		GCCCCCGGAGCGGTAGCCGAA	0.692																																						ENST00000257901.3																			0				NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(7)|liver(1)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	36						c.(247-249)cGc>cAc		keratin 85							38.0	46.0	43.0					12																	52760942		2203	4300	6503	SO:0001583	missense	3891				epidermis development	keratin filament	protein binding|structural molecule activity	g.chr12:52760942C>T	X99140	CCDS8824.1, CCDS73472.1	12q13.13	2013-06-20	2006-07-17	2006-07-17	ENSG00000135443	ENSG00000135443		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6462	protein-coding gene	gene with protein product	"""hard keratin type II"""	602767	"""keratin, hair, basic, 5"""	KRTHB5		9084137, 16831889	Standard	NM_002283		Approved	Hb-5	uc001sag.3	P78386	OTTHUMG00000169633	ENST00000257901.3:c.248G>A	12.37:g.52760942C>T	ENSP00000257901:p.Arg83His		Somatic					p.R83H	NM_002283.3	NP_002274.1	WXS	Illumina GAIIx	Phase_I	P78386	KRT85_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	1	323	-	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)		83			Head.		Q9NSB1	Missense_Mutation	SNP	ENST00000257901.3	37	c.248G>A	CCDS8824.1	.	.	.	.	.	.	.	.	.	.	C	15.53	2.862149	0.51482	.	.	ENSG00000135443	ENST00000257901	T	0.75367	-0.93	4.74	4.74	0.60224	.	0.000000	0.56097	D	0.000033	T	0.81250	0.4783	M	0.73217	2.22	0.80722	D	1	D	0.76494	0.999	D	0.65140	0.932	T	0.76686	-0.2868	10	0.15499	T	0.54	.	11.7323	0.51744	0.0:0.919:0.0:0.081	.	83	P78386	KRT85_HUMAN	H	83	ENSP00000257901:R83H	ENSP00000257901:R83H	R	-	2	0	KRT85	51047209	0.501000	0.26099	0.998000	0.56505	0.252000	0.25951	1.493000	0.35605	2.619000	0.88677	0.561000	0.74099	CGC		0.692	KRT85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405184.1	NM_002283		9	60	0	0	0	0.024245	0	9	60				
SSU72	29101	broad.mit.edu	37	1	1500119	1500120	+	Intron	INS	-	-	G			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr1:1500119_1500120insG	ENST00000291386.3	-	2	536				SSU72_ENST00000359060.4_Frame_Shift_Ins_p.P86fs	NM_014188.2	NP_054907.1	Q9NP77	SSU72_HUMAN	SSU72 RNA polymerase II CTD phosphatase homolog (S. cerevisiae)						dephosphorylation of RNA polymerase II C-terminal domain (GO:0070940)|mRNA polyadenylation (GO:0006378)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	CTD phosphatase activity (GO:0008420)			large_intestine(2)|lung(5)	7	all_cancers(77;0.00125)|all_epithelial(69;0.000703)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.03e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;5.04e-37)|OV - Ovarian serous cystadenocarcinoma(86;3.72e-23)|GBM - Glioblastoma multiforme(42;1.2e-07)|Colorectal(212;0.000188)|COAD - Colon adenocarcinoma(227;0.000214)|Kidney(185;0.00254)|STAD - Stomach adenocarcinoma(132;0.00645)|BRCA - Breast invasive adenocarcinoma(365;0.00837)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)		GAGGACCACACGGGGGGTTTTT	0.505																																						ENST00000359060.4																			0				large_intestine(2)|lung(5)	7						c.(256-258)ctgfs		SSU72 RNA polymerase II CTD phosphatase homolog (S. cerevisiae)																																				SO:0001627	intron_variant	29101				mRNA processing	cytoplasm|nucleus	phosphoprotein phosphatase activity	g.chr1:1500119_1500120insG	AJ276409	CCDS32.1	1p36	2010-03-24	2006-04-04		ENSG00000160075	ENSG00000160075			25016	protein-coding gene	gene with protein product			"""Ssu72 RNA polymerase II CTD phosphatase homolog (yeast)"""			15125841, 15659578	Standard	NM_014188		Approved	HSPC182	uc001agd.3	Q9NP77	OTTHUMG00000000576	ENST00000291386.3:c.224+32->C	1.37:g.1500125_1500125dupG			Somatic				SSU72_ENST00000291386.3_Intron	p.L86fs			WXS	Illumina GAIIx	Phase_I	Q9NP77	SSU72_HUMAN		Epithelial(90;5.04e-37)|OV - Ovarian serous cystadenocarcinoma(86;3.72e-23)|GBM - Glioblastoma multiforme(42;1.2e-07)|Colorectal(212;0.000188)|COAD - Colon adenocarcinoma(227;0.000214)|Kidney(185;0.00254)|STAD - Stomach adenocarcinoma(132;0.00645)|BRCA - Breast invasive adenocarcinoma(365;0.00837)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)	2	283_284	-	all_cancers(77;0.00125)|all_epithelial(69;0.000703)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.03e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	0					Q9BZS6|Q9H933	Frame_Shift_Ins	INS	ENST00000291386.3	37	c.257_258insC	CCDS32.1																																																																																				0.505	SSU72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001366.1	NM_014188		18	1797						18	1797	---	---	---	---
ERRFI1	54206	broad.mit.edu	37	1	8074377	8074378	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr1:8074377_8074378insG	ENST00000377482.5	-	4	504_505	c.281_282insC	c.(280-282)cctfs	p.P94fs	ERRFI1_ENST00000467067.1_3'UTR|ERRFI1_ENST00000474874.1_Intron|ERRFI1_ENST00000469499.1_Frame_Shift_Ins_p.S69fs	NM_018948.3	NP_061821.1	Q9UJM3	ERRFI_HUMAN	ERBB receptor feedback inhibitor 1	94					lung alveolus development (GO:0048286)|lung epithelium development (GO:0060428)|lung vasculature development (GO:0060426)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of protein autophosphorylation (GO:0031953)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of keratinocyte differentiation (GO:0045616)|response to stress (GO:0006950)|skin morphogenesis (GO:0043589)	cytoplasm (GO:0005737)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|Rho GTPase activator activity (GO:0005100)			breast(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(3)|ovary(1)|prostate(1)|skin(2)	16	Ovarian(185;0.06)|all_lung(157;0.151)	all_epithelial(116;1.76e-16)|all_lung(118;3.66e-05)|Lung NSC(185;0.000163)|Renal(390;0.000469)|Colorectal(325;0.0033)|Breast(348;0.0044)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.33e-70)|GBM - Glioblastoma multiforme(8;8.05e-37)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;6.9e-06)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.000985)|READ - Rectum adenocarcinoma(331;0.0642)		GAATAAGAAGAGGGGGCAAGCT	0.46																																						ENST00000377482.5																			0				breast(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(3)|ovary(1)|prostate(1)|skin(2)	16						c.(280-282)cctfs		ERBB receptor feedback inhibitor 1																																				SO:0001589	frameshift_variant	54206				lung alveolus development|lung epithelium development|lung vasculature development|negative regulation of epidermal growth factor receptor activity|negative regulation of protein autophosphorylation|regulation of keratinocyte differentiation|response to stress|skin morphogenesis	cytoplasm|extrinsic to internal side of plasma membrane|nucleus	protein kinase binding|Rho GTPase activator activity	g.chr1:8074377_8074378insG	BC025337	CCDS94.1	1p36.23	2008-02-05			ENSG00000116285	ENSG00000116285			18185	protein-coding gene	gene with protein product		608069				10749885, 2780291, 12226756, 11003669	Standard	NM_018948		Approved	MIG-6, GENE-33, RALT	uc001aoz.3	Q9UJM3	OTTHUMG00000001221	ENST00000377482.5:c.282dupC	1.37:g.8074382_8074382dupG	ENSP00000366702:p.Pro94fs		Somatic				ERRFI1_ENST00000467067.1_3'UTR|ERRFI1_ENST00000474874.1_Intron|ERRFI1_ENST00000469499.1_Frame_Shift_Ins_p.F69fs	p.P94fs	NM_018948.3	NP_061821.1	WXS	Illumina GAIIx	Phase_I	Q9UJM3	ERRFI_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.33e-70)|GBM - Glioblastoma multiforme(8;8.05e-37)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;6.9e-06)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.000985)|READ - Rectum adenocarcinoma(331;0.0642)	4	504_505	-	Ovarian(185;0.06)|all_lung(157;0.151)	all_epithelial(116;1.76e-16)|all_lung(118;3.66e-05)|Lung NSC(185;0.000163)|Renal(390;0.000469)|Colorectal(325;0.0033)|Breast(348;0.0044)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)	94					B2RDX9|Q9NTG9|Q9UD05	Frame_Shift_Ins	INS	ENST00000377482.5	37	c.281_282insC	CCDS94.1																																																																																				0.460	ERRFI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000003617.1	NM_018948		7	2194						7	2194	---	---	---	---
VPS13D	55187	broad.mit.edu	37	1	12422832	12422833	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr1:12422832_12422833insC	ENST00000358136.3	+	51	10328_10329	c.10198_10199insC	c.(10198-10200)gccfs	p.A3400fs	VPS13D_ENST00000356315.4_Frame_Shift_Ins_p.A3375fs	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)											NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		GGTCATCTTTGCCCCCCGTTAC	0.426																																						ENST00000358136.3																			0				NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130						c.(10198-10200)cccfs		vacuolar protein sorting 13 homolog D (S. cerevisiae)																																				SO:0001589	frameshift_variant	55187				protein localization			g.chr1:12422832_12422833insC	AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"""vacuolar protein sorting 13D (yeast)"""				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.10204dupC	1.37:g.12422838_12422838dupC	ENSP00000350854:p.Ala3400fs		Somatic				VPS13D_ENST00000356315.4_Frame_Shift_Ins_p.P3375fs	p.P3400fs	NM_015378.2	NP_056193.2	WXS	Illumina GAIIx	Phase_I	Q5THJ4	VP13D_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)	51	10328_10329	+	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	3399						Frame_Shift_Ins	INS	ENST00000358136.3	37	c.10198_10199insC	CCDS30588.1																																																																																				0.426	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	NM_015378		8	356						8	356	---	---	---	---
TMEM82	388595	broad.mit.edu	37	1	16073524	16073525	+	In_Frame_Ins	INS	-	-	GAT	rs55947911|rs201466858|rs114267265	byFrequency	TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr1:16073524_16073525insGAT	ENST00000375782.1	+	5	1058_1059	c.920_921insGAT	c.(919-924)accctg>acGATcctg	p.307_308TL>TIL	RP11-169K16.4_ENST00000418525.1_RNA	NM_001013641.1	NP_001013663.1	A0PJX8	TMM82_HUMAN	transmembrane protein 82	307				L -> IW (in Ref. 2; AAI27708). {ECO:0000305}.		integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|lung(5)|prostate(1)|skin(1)	13		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GGCGTCCGCACCCTGCTTGACC	0.624																																						ENST00000375782.1																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|lung(5)|prostate(1)|skin(1)	13						c.(919-921)act>aGATct		transmembrane protein 82				21,4245		0,21,2112						0.4	0.0			90	154,8100		1,152,3974	no	coding	TMEM82	NM_001013641.1		1,173,6086	A1A1,A1R,RR		1.8658,0.4923,1.3978				175,12345				SO:0001652	inframe_insertion	388595					integral to membrane		g.chr1:16073524_16073525insGAT		CCDS30608.1	1p36.13	2008-02-05				ENSG00000162460			32350	protein-coding gene	gene with protein product							Standard	NM_001013641		Approved		uc001axc.4	A0PJX8		Exception_encountered	1.37:g.16073524_16073525insGAT	ENSP00000364938:p.Thr307_Leu308insIle		Somatic				RP11-169K16.4_ENST00000418525.1_RNA	p.307_307T>RS	NM_001013641.1	NP_001013663.1	WXS	Illumina GAIIx	Phase_I	A0PJX8	TMM82_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	5	1058_1059	+		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)	307					B2RP27|Q5VVD4	In_Frame_Ins	INS	ENST00000375782.1	37	c.920_921insGAT	CCDS30608.1																																																																																				0.624	TMEM82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008471.2	NM_001013641		4	6						4	6	---	---	---	---
KIAA1522	57648	broad.mit.edu	37	1	33233494	33233495	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr1:33233494_33233495insC	ENST00000373480.1	+	2	268_269	c.165_166insC	c.(166-168)cccfs	p.P56fs	KIAA1522_ENST00000373481.3_Frame_Shift_Ins_p.P67fs|KIAA1522_ENST00000401073.2_Frame_Shift_Ins_p.P115fs|KIAA1522_ENST00000294521.3_Frame_Shift_Ins_p.P56fs	NM_001198972.1	NP_001185901.1	Q9P206	K1522_HUMAN	KIAA1522	56										breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				CCAGTGGGCGACCCCCCCACCT	0.614																																						ENST00000401073.2																			0				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24						c.(340-345)cgccccfs		KIAA1522																																				SO:0001589	frameshift_variant	57648							g.chr1:33233494_33233495insC	AL713671	CCDS41298.1, CCDS55588.1, CCDS55589.1	1p35.1	2009-02-18			ENSG00000162522	ENSG00000162522			29301	protein-coding gene	gene with protein product						10819331	Standard	NM_020888		Approved		uc001bvu.1	Q9P206	OTTHUMG00000008088	ENST00000373480.1:c.172dupC	1.37:g.33233501_33233501dupC	ENSP00000362579:p.Pro56fs		Somatic				KIAA1522_ENST00000294521.3_Frame_Shift_Ins_p.RP55fs|KIAA1522_ENST00000373481.3_Frame_Shift_Ins_p.RP66fs|KIAA1522_ENST00000373480.1_Frame_Shift_Ins_p.RP55fs	p.RP114fs	NM_020888.2	NP_065939.2	WXS	Illumina GAIIx	Phase_I	Q9P206	K1522_HUMAN			2	412_413	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)	55		S -> P (in dbSNP:rs3737994).			B4DQU8|B5MDY0|C9JH84|Q8TCQ0	Frame_Shift_Ins	INS	ENST00000373480.1	37	c.342_343insC	CCDS55588.1																																																																																				0.614	KIAA1522-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022130.1			7	176						7	176	---	---	---	---
AGO1	26523	broad.mit.edu	37	1	36354044	36354045	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr1:36354044_36354045insC	ENST00000373204.4	+	2	255_256	c.42_43insC	c.(43-45)cccfs	p.P15fs	AGO1_ENST00000373206.1_5'UTR	NM_012199.2	NP_036331.1	Q9UL18	AGO1_HUMAN	argonaute RISC catalytic component 1	15					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|nuclear-transcribed mRNA catabolic process (GO:0000956)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)										GCGCTTACCTGCCCCCCCTGCA	0.569																																						ENST00000373204.4																			0											c.(40-45)ctccccfs		argonaute RISC catalytic component 1																																				SO:0001589	frameshift_variant	26523							g.chr1:36354044_36354045insC	AF093097	CCDS398.1	1p34.3	2013-02-15	2013-02-15	2013-02-15	ENSG00000092847	ENSG00000092847		"""Argonaute/PIWI family"""	3262	protein-coding gene	gene with protein product	"""argonaute 1"""	606228	"""eukaryotic translation initiation factor 2C, 1"""	EIF2C1		10534406, 12906857	Standard	NM_012199		Approved	hAGO1	uc001bzl.3	Q9UL18	OTTHUMG00000007381	ENST00000373204.4:c.49dupC	1.37:g.36354051_36354051dupC	ENSP00000362300:p.Pro15fs		Somatic				AGO1_ENST00000373206.1_5'UTR	p.LP14fs	NM_012199.2	NP_036331.1	WXS	Illumina GAIIx	Phase_I					2	255_256	+								Q5TA57|Q6P4S0	Frame_Shift_Ins	INS	ENST00000373204.4	37	c.42_43insC	CCDS398.1																																																																																				0.569	AGO1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019337.3			7	111						7	111	---	---	---	---
PIK3R3	8503	broad.mit.edu	37	1	46546323	46546324	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr1:46546323_46546324insC	ENST00000262741.5	-	2	894_895	c.205_206insG	c.(205-207)gatfs	p.D69fs	PIK3R3_ENST00000354242.4_Frame_Shift_Ins_p.D69fs|PIK3R3_ENST00000420542.1_Frame_Shift_Ins_p.D69fs|PIK3R3_ENST00000423209.1_Frame_Shift_Ins_p.D69fs|PIK3R3_ENST00000372006.1_Frame_Shift_Ins_p.D69fs|PIK3R3_ENST00000540385.1_Frame_Shift_Ins_p.D115fs|PIK3R3_ENST00000340332.6_Intron	NM_003629.3	NP_003620.3	Q92569	P55G_HUMAN	phosphoinositide-3-kinase, regulatory subunit 3 (gamma)	69	SH2 1. {ECO:0000255|PROSITE- ProRule:PRU00191}.				insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphatidylinositol 3-kinase complex (GO:0005942)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)			endometrium(1)|large_intestine(5)|lung(6)|prostate(2)	14	Acute lymphoblastic leukemia(166;0.155)				Isoprenaline(DB01064)	CCTTGAAATATCCCCCCAGTAC	0.381																																						ENST00000262741.5																			0				endometrium(1)|large_intestine(5)|lung(6)|prostate(2)	14						c.(205-207)tatfs		phosphoinositide-3-kinase, regulatory subunit 3 (gamma)																																				SO:0001589	frameshift_variant	8503				insulin receptor signaling pathway|platelet activation|T cell costimulation		1-phosphatidylinositol-3-kinase activity|protein binding	g.chr1:46546323_46546324insC	BC021622	CCDS529.1	1p34.1	2013-02-14	2008-02-04		ENSG00000117461	ENSG00000117461		"""SH2 domain containing"""	8981	protein-coding gene	gene with protein product		606076				9524259	Standard	NM_003629		Approved	p55	uc001cpb.4	Q92569	OTTHUMG00000008096	ENST00000262741.5:c.206dupG	1.37:g.46546329_46546329dupC	ENSP00000262741:p.Asp69fs		Somatic				PIK3R3_ENST00000420542.1_Frame_Shift_Ins_p.Y69fs|PIK3R3_ENST00000423209.1_Frame_Shift_Ins_p.Y69fs|PIK3R3_ENST00000340332.6_Intron|PIK3R3_ENST00000372006.1_Frame_Shift_Ins_p.Y69fs|PIK3R3_ENST00000354242.4_Frame_Shift_Ins_p.Y69fs|PIK3R3_ENST00000540385.1_Frame_Shift_Ins_p.Y115fs	p.Y69fs	NM_003629.3	NP_003620.3	WXS	Illumina GAIIx	Phase_I	Q92569	P55G_HUMAN			2	894_895	-	Acute lymphoblastic leukemia(166;0.155)		69			SH2 1.		B2R9C1|D3DQ12|O60482|Q5T4P1|Q5T4P2	Frame_Shift_Ins	INS	ENST00000262741.5	37	c.205_206insG	CCDS529.1																																																																																				0.381	PIK3R3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022171.1	NM_003629		13	865						13	865	---	---	---	---
LRP8	7804	broad.mit.edu	37	1	53728210	53728211	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr1:53728210_53728211insC	ENST00000306052.6	-	11	1782_1783	c.1681_1682insG	c.(1681-1683)gacfs	p.D561fs	LRP8_ENST00000465675.1_Frame_Shift_Ins_p.D114fs|LRP8_ENST00000347547.2_Frame_Shift_Ins_p.D391fs|LRP8_ENST00000354412.3_Frame_Shift_Ins_p.D432fs|LRP8_ENST00000460214.1_5'Flank|LRP8_ENST00000371454.2_Frame_Shift_Ins_p.D561fs	NM_004631.4	NP_004622.2	Q14114	LRP8_HUMAN	low density lipoprotein receptor-related protein 8, apolipoprotein e receptor	561					ammon gyrus development (GO:0021541)|blood coagulation (GO:0007596)|cellular response to cholesterol (GO:0071397)|cellular response to growth factor stimulus (GO:0071363)|cytokine-mediated signaling pathway (GO:0019221)|endocytosis (GO:0006897)|layer formation in cerebral cortex (GO:0021819)|lipid metabolic process (GO:0006629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|phototransduction, visible light (GO:0007603)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendrite development (GO:1900006)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein tyrosine kinase activity (GO:0061098)|proteolysis (GO:0006508)|receptor-mediated endocytosis (GO:0006898)|reelin-mediated signaling pathway (GO:0038026)|regulation of synaptic transmission (GO:0050804)|response to drug (GO:0042493)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)	caveola (GO:0005901)|dendrite (GO:0030425)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|high-density lipoprotein particle binding (GO:0008035)|reelin receptor activity (GO:0038025)|transmembrane signaling receptor activity (GO:0004888)|very-low-density lipoprotein particle receptor activity (GO:0030229)			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(1)	21						CTTGGCCTGGTCCCCCCAGTCA	0.515																																						ENST00000306052.6																			0				endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(1)	21						c.(1681-1683)ccafs		low density lipoprotein receptor-related protein 8, apolipoprotein e receptor																																				SO:0001589	frameshift_variant	7804				cytokine-mediated signaling pathway|endocytosis|lipid metabolic process|platelet activation|proteolysis	caveola	calcium ion binding|very-low-density lipoprotein particle receptor activity	g.chr1:53728210_53728211insC	D50678	CCDS578.1, CCDS579.1, CCDS580.1, CCDS30720.1	1p32.3	2013-05-29			ENSG00000157193	ENSG00000157193		"""Low density lipoprotein receptors"""	6700	protein-coding gene	gene with protein product		602600				8626535, 9079678	Standard	NM_004631		Approved	APOER2, MCI1, LRP-8, HSZ75190	uc001cvi.2	Q14114	OTTHUMG00000008924	ENST00000306052.6:c.1682dupG	1.37:g.53728216_53728216dupC	ENSP00000303634:p.Asp561fs		Somatic				LRP8_ENST00000371454.2_Frame_Shift_Ins_p.P561fs|LRP8_ENST00000465675.1_Frame_Shift_Ins_p.P114fs|LRP8_ENST00000347547.2_Frame_Shift_Ins_p.P391fs|LRP8_ENST00000354412.3_Frame_Shift_Ins_p.P432fs	p.P561fs	NM_004631.4	NP_004622.2	WXS	Illumina GAIIx	Phase_I	Q14114	LRP8_HUMAN			11	1782_1783	-			561					B1AMT6|B1AMT7|B1AMT8|O14968|Q86V27|Q99876|Q9BR78	Frame_Shift_Ins	INS	ENST00000306052.6	37	c.1681_1682insG	CCDS578.1																																																																																				0.515	LRP8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000024699.1	NM_004631		10	389						10	389	---	---	---	---
FAM151A	338094	broad.mit.edu	37	1	55081756	55081757	+	Frame_Shift_Ins	INS	-	-	G	rs371885641		TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr1:55081756_55081757insG	ENST00000302250.2	-	3	511_512	c.351_352insC	c.(349-354)cccactfs	p.T118fs	ACOT11_ENST00000371316.3_Intron|FAM151A_ENST00000371304.2_Frame_Shift_Ins_p.T118fs	NM_176782.2	NP_788954.2	Q8WW52	F151A_HUMAN	family with sequence similarity 151, member A	118						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.T118fs*43(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	12						CTGTAGATAGTGGGGGGGTGTG	0.594																																						ENST00000302250.2																			1	Deletion - Frameshift(1)	p.T118fs*43(1)	ovary(1)	breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	12						c.(349-354)ccctatfs		family with sequence similarity 151, member A			,	13,4253		0,13,2120					,	3.2	0.2			92	8,8246		0,8,4119	no	frameshift,intron	ACOT11,FAM151A	NM_176782.2,NM_015547.3	,	0,21,6239	A1A1,A1R,RR		0.0969,0.3047,0.1677	,	,		21,12499				SO:0001589	frameshift_variant	338094					integral to membrane		g.chr1:55081756_55081757insG	AK091901	CCDS594.1	1p32.3	2008-02-05	2007-12-18	2007-12-18	ENSG00000162391	ENSG00000162391			25032	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 179"""	C1orf179		17273976	Standard	NM_176782		Approved	MGC27169	uc001cxn.3	Q8WW52	OTTHUMG00000009888	ENST00000302250.2:c.352dupC	1.37:g.55081763_55081763dupG	ENSP00000306888:p.Thr118fs		Somatic				ACOT11_ENST00000371316.3_Intron|FAM151A_ENST00000371304.2_Frame_Shift_Ins_p.Y118fs	p.Y118fs	NM_176782.2	NP_788954.2	WXS	Illumina GAIIx	Phase_I	Q8WW52	F151A_HUMAN			3	511_512	-			118					Q5VUG5|Q6DKH5|Q6UWV0|Q8NAX9|Q96KY5	Frame_Shift_Ins	INS	ENST00000302250.2	37	c.351_352insC	CCDS594.1																																																																																				0.594	FAM151A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027342.1	NM_176782		19	262						19	262	---	---	---	---
DAB1	1600	broad.mit.edu	37	1	57491653	57491654	+	Splice_Site	INS	-	-	G	rs138352976|rs201318657		TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr1:57491653_57491654insG	ENST00000371231.1	-	11	919_920		c.e11+1		DAB1_ENST00000414851.2_Splice_Site|DAB1_ENST00000485760.1_Splice_Site|DAB1_ENST00000439789.2_Splice_Site|DAB1_ENST00000371236.2_Splice_Site|DAB1_ENST00000420954.2_Splice_Site|DAB1_ENST00000371234.4_Splice_Site			O75553	DAB1_HUMAN	Dab, reelin signal transducer, homolog 1 (Drosophila)						adult walking behavior (GO:0007628)|cell-cell adhesion involved in neuronal-glial interactions involved in cerebral cortex radial glia guided migration (GO:0021813)|cerebellum structural organization (GO:0021589)|dendrite development (GO:0016358)|Golgi localization (GO:0051645)|lateral motor column neuron migration (GO:0097477)|midgut development (GO:0007494)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell adhesion (GO:0007162)|negative regulation of JAK-STAT cascade (GO:0046426)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein kinase activity (GO:0045860)|radial glia guided migration of Purkinje cell (GO:0021942)|response to drug (GO:0042493)|small GTPase mediated signal transduction (GO:0007264)|ventral spinal cord development (GO:0021517)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytosol (GO:0005829)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						TGCATACTTACGGGGGGAGAGG	0.465																																						ENST00000371236.2																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						c.e10+1		Dab, reelin signal transducer, homolog 1 (Drosophila)																																				SO:0001630	splice_region_variant	1600				cell differentiation|nervous system development			g.chr1:57491653_57491654insG	BC067445	CCDS607.1	1p32-p31	2013-10-03	2013-10-03		ENSG00000173406	ENSG00000173406			2661	protein-coding gene	gene with protein product		603448	"""disabled (Drosophila) homolog 1"", ""disabled homolog 1 (Drosophila)"", ""Dab, reelin signal transducer, homolog 1 (Drosophila)"", ""Dab reelin signal transducer 1"""			9790777	Standard	NM_021080		Approved		uc001cys.1	O75553	OTTHUMG00000008391	ENST00000371231.1:c.885+1->C	1.37:g.57491659_57491659dupG			Somatic				DAB1_ENST00000439789.2_Splice_Site|DAB1_ENST00000371231.1_Splice_Site|DAB1_ENST00000414851.2_Splice_Site|DAB1_ENST00000371234.4_Splice_Site|DAB1_ENST00000420954.2_Splice_Site|DAB1_ENST00000485760.1_Splice_Site				WXS	Illumina GAIIx	Phase_I	O75553	DAB1_HUMAN			10	1049_1050	-								A4FU90|B3KTG3|Q4LE59|Q5T6M6|Q5T6M9|Q5T835|Q5T836|Q5T837|Q6NWS9|Q6NWT0|Q6NWT1|Q9NYA8	Splice_Site	INS	ENST00000371231.1	37																																																																																						0.465	DAB1-010	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000027962.1	NM_021080	Intron	9	511						9	511	---	---	---	---
GBP7	388646	broad.mit.edu	37	1	89613321	89613322	+	Frame_Shift_Ins	INS	-	-	C	rs138127555|rs185821757		TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr1:89613321_89613322insC	ENST00000294671.2	-	8	1431_1432	c.1293_1294insG	c.(1291-1296)gggcacfs	p.H432fs		NM_207398.2	NP_997281.2	Q8N8V2	GBP7_HUMAN	guanylate binding protein 7	432						membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Lung NSC(277;0.0908)		all cancers(265;0.00835)|Epithelial(280;0.0322)		TAGATATTGTGCCCCCCCGGAA	0.436																																						ENST00000294671.2																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(1291-1296)ggacaafs		guanylate binding protein 7																																				SO:0001589	frameshift_variant	388646					integral to membrane	GTP binding|GTPase activity	g.chr1:89613321_89613322insC	AK096141	CCDS720.1	1p22.2	2008-02-05			ENSG00000213512	ENSG00000213512			29606	protein-coding gene	gene with protein product		612468					Standard	NM_207398		Approved	FLJ38822, GBP4L	uc001dna.2	Q8N8V2	OTTHUMG00000010659	ENST00000294671.2:c.1294dupG	1.37:g.89613328_89613328dupC	ENSP00000294671:p.His432fs		Somatic					p.Q432fs	NM_207398.2	NP_997281.2	WXS	Illumina GAIIx	Phase_I	Q8N8V2	GBP7_HUMAN		all cancers(265;0.00835)|Epithelial(280;0.0322)	8	1431_1432	-		Lung NSC(277;0.0908)	432						Frame_Shift_Ins	INS	ENST00000294671.2	37	c.1293_1294insG	CCDS720.1																																																																																				0.436	GBP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029401.1	NM_207398		14	165						14	165	---	---	---	---
EPHX4	253152	broad.mit.edu	37	1	92511121	92511122	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr1:92511121_92511122insG	ENST00000370383.4	+	4	606_607	c.508_509insG	c.(508-510)tggfs	p.W170fs		NM_173567.4	NP_775838.3	Q8IUS5	EPHX4_HUMAN	epoxide hydrolase 4	170						integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)			central_nervous_system(1)|large_intestine(3)|lung(8)	12						TGGCCATGACTGGGGGGGCATG	0.386																																					GBM(140;473 1857 5172 22066 49719)	ENST00000370383.4																			0				central_nervous_system(1)|large_intestine(3)|lung(8)	12						c.(508-510)gggfs		epoxide hydrolase 4																																				SO:0001589	frameshift_variant	253152					integral to membrane	hydrolase activity	g.chr1:92511121_92511122insG	AK074822	CCDS736.1	1p22.1	2011-10-05	2009-04-06	2009-04-06	ENSG00000172031	ENSG00000172031		"""Abhydrolase domain containing"""	23758	protein-coding gene	gene with protein product			"""abhydrolase domain containing 7"""	ABHD7		12477932	Standard	NM_173567		Approved	EPHXRP, FLJ90341	uc001don.2	Q8IUS5	OTTHUMG00000010114	ENST00000370383.4:c.515dupG	1.37:g.92511128_92511128dupG	ENSP00000359410:p.Trp170fs		Somatic					p.G170fs	NM_173567.4	NP_775838.3	WXS	Illumina GAIIx	Phase_I	Q8IUS5	EPHX4_HUMAN			4	606_607	+			170					Q8NCC6	Frame_Shift_Ins	INS	ENST00000370383.4	37	c.508_509insG	CCDS736.1																																																																																				0.386	EPHX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027985.1	NM_173567		13	227						13	227	---	---	---	---
OVGP1	5016	broad.mit.edu	37	1	111959046	111959047	+	Frame_Shift_Ins	INS	-	-	C	rs552970171		TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr1:111959046_111959047insC	ENST00000369732.3	-	10	1109_1110	c.1054_1055insG	c.(1054-1056)gccfs	p.A352fs	OVGP1_ENST00000540696.1_3'UTR	NM_002557.3	NP_002548.3	Q12889	OVGP1_HUMAN	oviductal glycoprotein 1, 120kDa	352					binding of sperm to zona pellucida (GO:0007339)|carbohydrate metabolic process (GO:0005975)|chitin catabolic process (GO:0006032)|female pregnancy (GO:0007565)|multicellular organism reproduction (GO:0032504)|negative regulation of binding of sperm to zona pellucida (GO:2000360)|single fertilization (GO:0007338)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|egg coat (GO:0035805)|perivitelline space (GO:0098595)	chitinase activity (GO:0004568)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)		CCACACCATGGCCCCCCCAAAA	0.505																																						ENST00000369732.3																			0				NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39						c.(1054-1056)catfs		oviductal glycoprotein 1, 120kDa																																				SO:0001589	frameshift_variant	5016				chitin catabolic process|female pregnancy|single fertilization	transport vesicle	cation binding|chitinase activity	g.chr1:111959046_111959047insC	U09550	CCDS834.1	1p13.2	2008-07-31	2008-07-31		ENSG00000085465	ENSG00000085465		"""Mucins"""	8524	protein-coding gene	gene with protein product	"""oviductin"""	603578	"""mucin 9"""	MUC9		7819450, 9341614	Standard	NM_002557		Approved	CHIT5	uc001eba.3	Q12889	OTTHUMG00000011746	ENST00000369732.3:c.1055dupG	1.37:g.111959053_111959053dupC	ENSP00000358747:p.Ala352fs		Somatic				OVGP1_ENST00000540696.1_3'UTR	p.H352fs	NM_002557.3	NP_002548.3	WXS	Illumina GAIIx	Phase_I	Q12889	OVGP1_HUMAN		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)	10	1109_1110	-		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)	352					A0AV19|B9EGE1|Q15841	Frame_Shift_Ins	INS	ENST00000369732.3	37	c.1054_1055insG	CCDS834.1																																																																																				0.505	OVGP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032461.1	NM_002557		13	229						13	229	---	---	---	---
ITGA10	8515	broad.mit.edu	37	1	145534121	145534122	+	Frame_Shift_Ins	INS	-	-	C	rs147270843	byFrequency	TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr1:145534121_145534122insC	ENST00000369304.3	+	14	1801_1802	c.1626_1627insC	c.(1627-1629)cccfs	p.P543fs	ITGA10_ENST00000539363.1_Frame_Shift_Ins_p.P400fs|ITGA10_ENST00000538811.1_Frame_Shift_Ins_p.P412fs	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	543					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)	integrin alpha10-beta1 complex (GO:0034680)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TTCAGCCAGAACCCCCCCAGGA	0.554																																						ENST00000369304.3																			0				NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59						c.(1624-1629)gaccccfs		integrin, alpha 10																																				SO:0001589	frameshift_variant	8515				cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity	g.chr1:145534121_145534122insC	AF074015	CCDS72869.1	1q21.1	2010-03-23			ENSG00000143127	ENSG00000143127		"""Integrins"""	6135	protein-coding gene	gene with protein product		604042				9685391, 10702680	Standard	NM_003637		Approved		uc001eoa.3	O75578	OTTHUMG00000013751	ENST00000369304.3:c.1633dupC	1.37:g.145534128_145534128dupC	ENSP00000358310:p.Pro543fs		Somatic				ITGA10_ENST00000539363.1_Frame_Shift_Ins_p.DP399fs|ITGA10_ENST00000538811.1_Frame_Shift_Ins_p.DP411fs	p.DP542fs	NM_003637.3	NP_003628.2	WXS	Illumina GAIIx	Phase_I	O75578	ITA10_HUMAN			14	1801_1802	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		542					B2RAM4|B2RTV5|Q6UXJ6|Q9UHZ8	Frame_Shift_Ins	INS	ENST00000369304.3	37	c.1626_1627insC	CCDS918.1																																																																																				0.554	ITGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038537.2	NM_003637		14	277						14	277	---	---	---	---
PIAS3	10401	broad.mit.edu	37	1	145585532	145585533	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr1:145585532_145585533insG	ENST00000393045.2	+	14	1887_1888	c.1797_1798insG	c.(1798-1800)gggfs	p.G600fs	NUDT17_ENST00000444015.2_5'Flank|PIAS3_ENST00000369298.1_Frame_Shift_Ins_p.G565fs	NM_006099.3	NP_006090.2	Q9Y6X2	PIAS3_HUMAN	protein inhibitor of activated STAT, 3	600					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)			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)					TTGTGGCCCCTGGGGGGGCCTT	0.663																																						ENST00000393045.2																			0				cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)	28						c.(1795-1800)ccggggfs		protein inhibitor of activated STAT, 3				11,4249		0,11,2119						4.1	1.0			46	12,8224		0,12,4106	no	frameshift	PIAS3	NM_006099.3		0,23,6225	A1A1,A1R,RR		0.1457,0.2582,0.1841				23,12473				SO:0001589	frameshift_variant	10401				positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding	g.chr1:145585532_145585533insG	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.1804dupG	1.37:g.145585539_145585539dupG	ENSP00000376765:p.Gly600fs		Somatic				PIAS3_ENST00000369298.1_Frame_Shift_Ins_p.PG564fs	p.PG599fs	NM_006099.3	NP_006090.2	WXS	Illumina GAIIx	Phase_I	Q9Y6X2	PIAS3_HUMAN			14	1887_1888	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		599					Q9UFI3	Frame_Shift_Ins	INS	ENST00000393045.2	37	c.1797_1798insG	CCDS920.2																																																																																				0.663	PIAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038533.4	NM_006099		15	190						15	190	---	---	---	---
SV2A	9900	broad.mit.edu	37	1	149885018	149885019	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr1:149885018_149885019insC	ENST00000369146.3	-	2	864_865	c.374_375insG	c.(373-375)ggcfs	p.G125fs	SV2A_ENST00000369145.1_Frame_Shift_Ins_p.G125fs	NM_001278719.1|NM_014849.3	NP_001265648.1|NP_055664.3	Q7L0J3	SV2A_HUMAN	synaptic vesicle glycoprotein 2A	125					cellular calcium ion homeostasis (GO:0006874)|neurotransmitter transport (GO:0006836)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|presynaptic active zone (GO:0048786)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)	protein kinase binding (GO:0019901)|receptor activity (GO:0004872)|transmembrane transporter activity (GO:0022857)			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	CATCACTCAAGCCCCCCCTTAC	0.629																																						ENST00000369146.3																			0				breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55						c.(373-375)gttfs		synaptic vesicle glycoprotein 2A	Levetiracetam(DB01202)																																			SO:0001589	frameshift_variant	9900				neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity	g.chr1:149885018_149885019insC	AB018279	CCDS940.1	1q21.2	2008-02-05			ENSG00000159164	ENSG00000159164			20566	protein-coding gene	gene with protein product		185860				7681585, 10611374	Standard	NM_014849		Approved	SV2, KIAA0736	uc001etg.3	Q7L0J3	OTTHUMG00000012209	ENST00000369146.3:c.375dupG	1.37:g.149885025_149885025dupC	ENSP00000358142:p.Gly125fs		Somatic				SV2A_ENST00000369145.1_Frame_Shift_Ins_p.V125fs	p.V125fs	NM_014849.3	NP_055664.3	WXS	Illumina GAIIx	Phase_I	Q7L0J3	SV2A_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		2	864_865	-	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		125					D3DUZ7|O94841|Q5QNX8|Q7Z3L6|Q8NBJ6|Q9BVZ9	Frame_Shift_Ins	INS	ENST00000369146.3	37	c.374_375insG	CCDS940.1																																																																																				0.629	SV2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033754.1			7	107						7	107	---	---	---	---
HAX1	10456	broad.mit.edu	37	1	154246356	154246357	+	Frame_Shift_Ins	INS	-	-	G	rs200778148		TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr1:154246356_154246357insG	ENST00000328703.7	+	3	636_637	c.423_424insG	c.(424-426)gggfs	p.G142fs	HAX1_ENST00000532105.1_Frame_Shift_Ins_p.G14fs|HAX1_ENST00000483970.2_Frame_Shift_Ins_p.G150fs|HAX1_ENST00000457918.2_Frame_Shift_Ins_p.G94fs	NM_006118.3	NP_006109.2	O00165	HAX1_HUMAN	HCLS1 associated protein X-1	142	Involved in HCLS1 binding.				cellular response to cytokine stimulus (GO:0071345)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of actin filament polymerization (GO:0030833)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrion degradation (GO:1903146)|regulation of protein targeting to mitochondrion (GO:1903214)	actin cytoskeleton (GO:0015629)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|lamellipodium (GO:0030027)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|sarcoplasmic reticulum (GO:0016529)|transcription factor complex (GO:0005667)	interleukin-1 binding (GO:0019966)|protein N-terminus binding (GO:0047485)			cervix(1)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	15	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			CCAGGATCTTTGGGGGGGTCTT	0.554									Kostmann syndrome																													ENST00000328703.7																			0				cervix(1)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	15						c.(421-426)ttggggfs		HCLS1 associated protein X-1																																				SO:0001589	frameshift_variant	10456	Kostmann syndrome	Familial Cancer Database	Kostmann Infantile Agranulocytosis, Severe Congenital Neutropenia, Congenital Agranulocytosis		actin cytoskeleton|cytoplasmic membrane-bounded vesicle|lamellipodium|mitochondrion|nuclear membrane|sarcoplasmic reticulum|soluble fraction	interleukin-1 binding|protein N-terminus binding	g.chr1:154246356_154246357insG	U68566	CCDS1064.1, CCDS44230.1	1q21.3	2014-09-17			ENSG00000143575	ENSG00000143575			16915	protein-coding gene	gene with protein product	"""HCLS1 (and PKD2) associated protein"""	605998				9058808, 10760273	Standard	NM_006118		Approved	HS1BP1, HCLSBP1	uc001fes.3	O00165	OTTHUMG00000035978	ENST00000328703.7:c.430dupG	1.37:g.154246363_154246363dupG	ENSP00000329002:p.Gly142fs		Somatic				HAX1_ENST00000532105.1_Frame_Shift_Ins_p.LG13fs|HAX1_ENST00000457918.2_Frame_Shift_Ins_p.LG93fs|HAX1_ENST00000483970.2_Frame_Shift_Ins_p.LG149fs	p.LG141fs	NM_006118.3	NP_006109.2	WXS	Illumina GAIIx	Phase_I	O00165	HAX1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		3	636_637	+	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		141		F -> L (in SCN3; mild form).	Involved in HCLS1 binding.		A8W4W9|A8W4X0|B4DUJ7|Q5VYD5|Q5VYD7|Q96AU4|Q9BS80	Frame_Shift_Ins	INS	ENST00000328703.7	37	c.423_424insG	CCDS1064.1																																																																																				0.554	HAX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087650.1	NM_006118		7	182						7	182	---	---	---	---
MRPL24	79590	broad.mit.edu	37	1	156708444	156708445	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr1:156708444_156708445insG	ENST00000361531.2	-	2	188_189	c.52_53insC	c.(52-54)catfs	p.H18fs	MRPL24_ENST00000478899.1_5'Flank|MRPL24_ENST00000368211.4_Frame_Shift_Ins_p.H18fs			Q96A35	RM24_HUMAN	mitochondrial ribosomal protein L24	18					translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	structural constituent of ribosome (GO:0003735)			endometrium(1)|large_intestine(1)|lung(4)	6	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					ATAGCGGTAATGGGGGGGCAGA	0.574																																						ENST00000361531.2																			0				endometrium(1)|large_intestine(1)|lung(4)	6						c.(52-54)ttafs		mitochondrial ribosomal protein L24																																				SO:0001589	frameshift_variant	79590				translation	mitochondrion|ribosome	structural constituent of ribosome	g.chr1:156708444_156708445insG	AB051341	CCDS1155.1	1q23.1	2012-11-14			ENSG00000143314	ENSG00000143314		"""Mitochondrial ribosomal proteins / large subunits"""	14037	protein-coding gene	gene with protein product		611836					Standard	NM_145729		Approved	MRP-L18	uc001fpx.1	Q96A35	OTTHUMG00000041296	ENST00000361531.2:c.53dupC	1.37:g.156708451_156708451dupG	ENSP00000354525:p.His18fs		Somatic				MRPL24_ENST00000368211.4_Frame_Shift_Ins_p.L18fs	p.L18fs			WXS	Illumina GAIIx	Phase_I	Q96A35	RM24_HUMAN			2	188_189	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		18					D3DVC8|Q53G65|Q53HT0|Q5SYZ9|Q5SZ00|Q5SZ02|Q96Q70|Q9H7G3	Frame_Shift_Ins	INS	ENST00000361531.2	37	c.52_53insC	CCDS1155.1																																																																																				0.574	MRPL24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098955.1	NM_145729		10	164						10	164	---	---	---	---
OR6K3	391114	broad.mit.edu	37	1	158686981	158686982	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr1:158686981_158686982insT	ENST00000368146.1	-	1	971_972	c.972_973insA	c.(970-975)aaagtgfs	p.V325fs	OR6K3_ENST00000368145.1_Frame_Shift_Ins_p.V309fs			Q8NGY3	OR6K3_HUMAN	olfactory receptor, family 6, subfamily K, member 3	325						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)	41	all_hematologic(112;0.0378)					TTGTTCAACACTTTTTGAAGAC	0.391																																						ENST00000368146.1																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)	41						c.(970-975)aatgttfs		olfactory receptor, family 6, subfamily K, member 3																																				SO:0001589	frameshift_variant	391114				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158686981_158686982insT	AB065633	CCDS30903.1, CCDS30903.2	1q23.1	2012-08-09			ENSG00000203757	ENSG00000203757		"""GPCR / Class A : Olfactory receptors"""	15030	protein-coding gene	gene with protein product							Standard	NM_001005327		Approved		uc021pbn.1	Q8NGY3	OTTHUMG00000022770	ENST00000368146.1:c.973dupA	1.37:g.158686986_158686986dupT	ENSP00000357128:p.Val325fs		Somatic				OR6K3_ENST00000368145.1_Frame_Shift_Ins_p.NV308fs	p.NV324fs			WXS	Illumina GAIIx	Phase_I	Q8NGY3	OR6K3_HUMAN			1	971_972	-	all_hematologic(112;0.0378)		324					Q5VUV0|Q6IFR5	Frame_Shift_Ins	INS	ENST00000368146.1	37	c.972_973insA																																																																																					0.391	OR6K3-201	KNOWN	basic	protein_coding	protein_coding				7	591						7	591	---	---	---	---
ADCY10	55811	broad.mit.edu	37	1	167865905	167865906	+	Frame_Shift_Ins	INS	-	-	G	rs35604923		TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr1:167865905_167865906insG	ENST00000367851.4	-	7	850_851	c.666_667insC	c.(664-669)cccaatfs	p.N223fs	ADCY10_ENST00000367848.1_Frame_Shift_Ins_p.N131fs|ADCY10_ENST00000545172.1_Frame_Shift_Ins_p.N70fs	NM_018417.4	NP_060887.2	Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	223					cAMP biosynthetic process (GO:0006171)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|spermatogenesis (GO:0007283)	apical part of cell (GO:0045177)|axon (GO:0030424)|basal part of cell (GO:0045178)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						AAATTAAAATTGGGGGGTGGTT	0.332																																						ENST00000367848.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						c.(388-393)ccatttfs		adenylate cyclase 10 (soluble)																																				SO:0001589	frameshift_variant	55811				intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding	g.chr1:167865905_167865906insG	AF271058	CCDS1265.1, CCDS53426.1, CCDS72977.1	1q24	2013-02-04			ENSG00000143199	ENSG00000143199	4.6.1.1	"""Adenylate cyclases"""	21285	protein-coding gene	gene with protein product	"""soluble adenylyl cyclase"", ""Hypercalciuria, absorptive, 2"""	605205					Standard	XM_006711449		Approved	SAC, Sacy, SACI, HCA2, RP1-313L4.2	uc001ger.3	Q96PN6	OTTHUMG00000034573	ENST00000367851.4:c.667dupC	1.37:g.167865911_167865911dupG	ENSP00000356825:p.Asn223fs		Somatic				ADCY10_ENST00000367851.4_Frame_Shift_Ins_p.F223fs|ADCY10_ENST00000545172.1_Frame_Shift_Ins_p.F70fs	p.F131fs			WXS	Illumina GAIIx	Phase_I	Q96PN6	ADCYA_HUMAN			7	887_888	-			223			Guanylate cyclase 1.		B4DZF0|F5GWS5|O95558|Q5R329|Q5R330|Q8WXV4|Q9NNX0	Frame_Shift_Ins	INS	ENST00000367851.4	37	c.390_391insC	CCDS1265.1																																																																																				0.332	ADCY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083663.1	NM_018417		9	526						9	526	---	---	---	---
GOLT1A	127845	broad.mit.edu	37	1	204170835	204170836	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr1:204170835_204170836insC	ENST00000308302.3	-	3	406_407	c.221_222insG	c.(220-222)ggtfs	p.G74fs	GOLT1A_ENST00000475517.1_5'Flank	NM_198447.1	NP_940849.1			golgi transport 1A											kidney(1)|lung(2)|urinary_tract(1)	4	all_cancers(21;0.0165)|Breast(84;0.179)|all_epithelial(62;0.242)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.244)			CGATAACCACACCCCCCAGGAG	0.545																																						ENST00000308302.3																			0				kidney(1)|lung(2)|urinary_tract(1)	4						c.(220-222)ggtfs		golgi transport 1A																																				SO:0001589	frameshift_variant	127845				protein transport|vesicle-mediated transport	Golgi membrane|integral to membrane		g.chr1:204170835_204170836insC	BC058832	CCDS1443.1	1q32.1	2010-06-24	2010-06-24		ENSG00000174567	ENSG00000174567			24766	protein-coding gene	gene with protein product			"""golgi transport 1 homolog A (S. cerevisiae)"""			12477932	Standard	NM_198447		Approved	FLJ42654, CGI-141, YMR292W, GOT1, MGC62027	uc001has.1	Q6ZVE7	OTTHUMG00000036056	ENST00000308302.3:c.222dupG	1.37:g.204170841_204170841dupC	ENSP00000308535:p.Gly74fs		Somatic					p.G74fs	NM_198447.1	NP_940849.1	WXS	Illumina GAIIx	Phase_I	Q6ZVE7	GOT1A_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.244)		3	406_407	-	all_cancers(21;0.0165)|Breast(84;0.179)|all_epithelial(62;0.242)		74						Frame_Shift_Ins	INS	ENST00000308302.3	37	c.221_222insG	CCDS1443.1																																																																																				0.545	GOLT1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087887.1	NM_198447		9	280						9	280	---	---	---	---
PIK3C2B	5287	broad.mit.edu	37	1	204438071	204438072	+	Frame_Shift_Ins	INS	-	-	G	rs115574296		TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr1:204438071_204438072insG	ENST00000367187.3	-	3	1415_1416	c.859_860insC	c.(859-861)cgcfs	p.R287fs	PIK3C2B_ENST00000424712.2_Frame_Shift_Ins_p.R287fs	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	287	Interaction with GRB2.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein kinase B signaling (GO:0043491)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|lipid kinase activity (GO:0001727)|phosphatidylinositol binding (GO:0035091)	p.R287fs*92(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			GGCATAGGTGCGGGGGGGCACC	0.624																																						ENST00000367187.3																			1	Deletion - Frameshift(1)	p.R287fs*92(1)	lung(1)	breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52						c.(859-861)cacfs		phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta																																				SO:0001589	frameshift_variant	5287				cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding	g.chr1:204438071_204438072insG	Y11312	CCDS1446.1	1q32	2012-07-13	2012-07-13		ENSG00000133056	ENSG00000133056	2.7.1.154		8972	protein-coding gene	gene with protein product		602838	"""phosphoinositide-3-kinase, class 2, beta polypeptide"""			9144573, 9830063	Standard	NM_002646		Approved	C2-PI3K, PI3K-C2beta	uc001haw.3	O00750	OTTHUMG00000036101	ENST00000367187.3:c.860dupC	1.37:g.204438078_204438078dupG	ENSP00000356155:p.Arg287fs		Somatic				PIK3C2B_ENST00000424712.2_Frame_Shift_Ins_p.H287fs	p.H287fs	NM_002646.3	NP_002637.3	WXS	Illumina GAIIx	Phase_I	O00750	P3C2B_HUMAN	GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)		3	1415_1416	-	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		287			Interaction with GRB2.		O95666|Q5SW99	Frame_Shift_Ins	INS	ENST00000367187.3	37	c.859_860insC	CCDS1446.1																																																																																				0.624	PIK3C2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087965.1	NM_002646		17	153						17	153	---	---	---	---
CR2	1380	broad.mit.edu	37	1	207642043	207642044	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr1:207642043_207642044insC	ENST00000367058.3	+	3	806_807	c.617_618insC	c.(616-621)gtccccfs	p.VP206fs	CR2_ENST00000367059.3_Frame_Shift_Ins_p.VP206fs|CR2_ENST00000485707.1_3'UTR|CR2_ENST00000458541.2_Frame_Shift_Ins_p.VP206fs|CR2_ENST00000367057.3_Frame_Shift_Ins_p.VP206fs	NM_001877.4	NP_001868.2	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	206	Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}.				B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|complement activation, classical pathway (GO:0006958)|immune response (GO:0006955)|innate immune response (GO:0045087)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	complement binding (GO:0001848)|complement receptor activity (GO:0004875)|DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|transmembrane signaling receptor activity (GO:0004888)	p.T209fs*10(1)		NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						TGGAGTGCTGTCCCCCCCACAT	0.396																																						ENST00000367057.3																			1	Deletion - Frameshift(1)	p.T209fs*10(1)	breast(1)	NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						c.(616-618)gccfs		complement component (3d/Epstein Barr virus) receptor 2																																				SO:0001589	frameshift_variant	1380				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity	g.chr1:207642043_207642044insC	M26004	CCDS1478.1, CCDS31007.1	1q32	2014-09-17			ENSG00000117322	ENSG00000117322		"""CD molecules"", ""Complement system"""	2336	protein-coding gene	gene with protein product		120650					Standard	NM_001006658		Approved	CD21	uc001hfv.3	P20023	OTTHUMG00000036307	ENST00000367058.3:c.624dupC	1.37:g.207642050_207642050dupC	ENSP00000356025:p.Val206fs		Somatic				CR2_ENST00000367058.3_Frame_Shift_Ins_p.A206fs|CR2_ENST00000485707.1_3'UTR|CR2_ENST00000458541.2_Frame_Shift_Ins_p.A206fs|CR2_ENST00000367059.3_Frame_Shift_Ins_p.A206fs	p.A206fs	NM_001006658.2	NP_001006659.1	WXS	Illumina GAIIx	Phase_I	P20023	CR2_HUMAN			3	806_807	+			206			Sushi 3.		C9JHD2|Q13866|Q14212|Q53EL2|Q5BKT9|Q5SR46|Q5SR48	Frame_Shift_Ins	INS	ENST00000367058.3	37	c.617_618insC	CCDS1478.1																																																																																				0.396	CR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000088274.1	NM_001877		16	413						16	413	---	---	---	---
TRIM17	51127	broad.mit.edu	37	1	228596934	228596935	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr1:228596934_228596935insG	ENST00000366697.2	-	5	1777_1778	c.821_822insC	c.(820-822)ccafs	p.P274fs	TRIM11_ENST00000366699.3_5'Flank|TRIM17_ENST00000295033.3_Frame_Shift_Ins_p.P274fs|TRIM17_ENST00000456946.2_Frame_Shift_Ins_p.P274fs|TRIM17_ENST00000366698.2_Frame_Shift_Ins_p.P274fs|TRIM11_ENST00000284551.6_5'Flank|RP11-245P10.4_ENST00000436779.1_RNA			Q9Y577	TRI17_HUMAN	tripartite motif containing 17	274					protein autoubiquitination (GO:0051865)	intracellular (GO:0005622)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)	10		Prostate(94;0.0724)				TGGGTCTGGTTGGGGGGGCAAC	0.579																																						ENST00000366697.2																			0				NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)	10						c.(820-822)cacfs		tripartite motif containing 17																																				SO:0001589	frameshift_variant	51127				protein autoubiquitination	intracellular	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:228596934_228596935insG	AF156271	CCDS1571.1, CCDS44327.1	1q42	2013-01-09	2011-01-25	2001-11-30	ENSG00000162931	ENSG00000162931		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	13430	protein-coding gene	gene with protein product	"""ring finger protein 16"", ""RING finger protein terf"", ""testis RING finger protein"""	606123	"""tripartite motif-containing 17"""	RNF16		9792805, 10894938	Standard	NM_016102		Approved	terf, RBCC	uc001hsv.3	Q9Y577	OTTHUMG00000039974	ENST00000366697.2:c.822dupC	1.37:g.228596941_228596941dupG	ENSP00000355658:p.Pro274fs		Somatic				TRIM17_ENST00000456946.2_Frame_Shift_Ins_p.H274fs|TRIM17_ENST00000295033.3_Frame_Shift_Ins_p.H274fs|RP11-245P10.4_ENST00000436779.1_RNA|TRIM17_ENST00000366698.2_Frame_Shift_Ins_p.H274fs	p.H274fs			WXS	Illumina GAIIx	Phase_I	Q9Y577	TRI17_HUMAN			5	1777_1778	-		Prostate(94;0.0724)	274					B4DVJ2|Q5VST8	Frame_Shift_Ins	INS	ENST00000366697.2	37	c.821_822insC	CCDS1571.1																																																																																				0.579	TRIM17-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096439.2	NM_016102		7	67						7	67	---	---	---	---
SIPA1L2	57568	broad.mit.edu	37	1	232650637	232650638	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr1:232650637_232650638insG	ENST00000366630.1	-	2	806_807	c.448_449insC	c.(448-450)caafs	p.Q150fs	SIPA1L2_ENST00000262861.4_Frame_Shift_Ins_p.Q150fs			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	150					regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				AAGTCCTCTTTGGGGGGAATGG	0.49																																						ENST00000366630.1																			0				NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103						c.(448-450)aagfs		signal-induced proliferation-associated 1 like 2																																				SO:0001589	frameshift_variant	57568				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	g.chr1:232650637_232650638insG	AB037810	CCDS41474.1	1q42.2	2008-02-05			ENSG00000116991	ENSG00000116991			23800	protein-coding gene	gene with protein product		611609					Standard	NM_020808		Approved	KIAA1389	uc001hvg.3	Q9P2F8	OTTHUMG00000037820	ENST00000366630.1:c.449dupC	1.37:g.232650643_232650643dupG	ENSP00000355589:p.Gln150fs		Somatic				SIPA1L2_ENST00000262861.4_Frame_Shift_Ins_p.K150fs	p.K150fs			WXS	Illumina GAIIx	Phase_I	Q9P2F8	SI1L2_HUMAN			2	806_807	-		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)	150					Q2TV88|Q5VXR7|Q5VXR8|Q641Q4|Q8NA38|Q96DZ3|Q9H9F6	Frame_Shift_Ins	INS	ENST00000366630.1	37	c.448_449insC	CCDS41474.1																																																																																				0.490	SIPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092318.1	XM_045839		7	277						7	277	---	---	---	---
ITSN2	50618	broad.mit.edu	37	2	24439071	24439072	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr2:24439071_24439072insC	ENST00000355123.4	-	32	4279_4280	c.3836_3837insG	c.(3835-3837)ggcfs	p.G1279fs	AC009228.1_ENST00000430105.1_RNA|AC009228.1_ENST00000413254.1_RNA|ITSN2_ENST00000361999.3_Frame_Shift_Ins_p.G1252fs|AC009228.1_ENST00000413989.1_RNA	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	1279	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.			GEKMPVQ -> VDAAANS (in Ref. 6; AAD00899). {ECO:0000305}.	endocytosis (GO:0006897)|positive regulation of signal transduction (GO:0009967)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|SH3/SH2 adaptor activity (GO:0005070)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCATCTTCTCGCCCCCGGTCTT	0.525																																						ENST00000355123.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61						c.(3835-3837)ggafs		intersectin 2																																				SO:0001589	frameshift_variant	50618				endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	g.chr2:24439071_24439072insC	AB033082	CCDS1710.2, CCDS1711.2, CCDS46230.1	2p23.3	2013-09-19	2002-10-30		ENSG00000198399	ENSG00000198399		"""Rho guanine nucleotide exchange factors"", ""EF-hand domain containing"""	6184	protein-coding gene	gene with protein product	"""SH3 domain protein 1B"", ""SH3P18-like WASP associated protein"""	604464	"""SH3 domain protein 1B"""	SH3D1B		10922467, 11748279	Standard	NM_006277		Approved	KIAA1256, SWAP, SH3P18, SWA, PRO2015	uc002rfe.2	Q9NZM3	OTTHUMG00000090818	ENST00000355123.4:c.3837dupG	2.37:g.24439076_24439076dupC	ENSP00000347244:p.Gly1279fs		Somatic				AC009228.1_ENST00000430105.1_RNA|AC009228.1_ENST00000413989.1_RNA|ITSN2_ENST00000361999.3_Frame_Shift_Ins_p.G1252fs|AC009228.1_ENST00000413254.1_RNA	p.G1279fs	NM_006277.2	NP_006268.2	WXS	Illumina GAIIx	Phase_I	Q9NZM3	ITSN2_HUMAN			32	4279_4280	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1279	GEKMPVQ -> VDAAANS (in Ref. 6; AAD00899).		DH.		O95062|Q15812|Q9HAK4|Q9NXE6|Q9NYG0|Q9NZM2|Q9ULG4	Frame_Shift_Ins	INS	ENST00000355123.4	37	c.3836_3837insG	CCDS1710.2																																																																																				0.525	ITSN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207620.2	NM_006277		7	928						7	928	---	---	---	---
PAPOLG	64895	broad.mit.edu	37	2	61021134	61021135	+	Frame_Shift_Ins	INS	-	-	C	rs140373990		TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr2:61021134_61021135insC	ENST00000238714.3	+	19	2046_2047	c.1797_1798insC	c.(1798-1800)cccfs	p.P600fs		NM_022894.3	NP_075045.2	Q9BWT3	PAPOG_HUMAN	poly(A) polymerase gamma	600					mRNA polyadenylation (GO:0006378)|RNA polyadenylation (GO:0043631)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|polynucleotide adenylyltransferase activity (GO:0004652)|RNA binding (GO:0003723)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	35	all_hematologic(2;0.0797)		LUSC - Lung squamous cell carcinoma(5;1.19e-07)|Lung(5;2.86e-06)|Epithelial(17;0.0768)			AAACTGTATCACCCCCCACTGT	0.401																																					GBM(183;1497 2932 21839 46797)	ENST00000238714.3																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	35						c.(1795-1800)tcccccfs		poly(A) polymerase gamma																																				SO:0001589	frameshift_variant	64895				mRNA processing|RNA polyadenylation|transcription, DNA-dependent	nucleus	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding	g.chr2:61021134_61021135insC	AC012498	CCDS1863.1	2p16.1	2008-02-08			ENSG00000115421	ENSG00000115421	2.7.7.19		14982	protein-coding gene	gene with protein product							Standard	NM_022894		Approved	FLJ12972	uc002sai.3	Q9BWT3	OTTHUMG00000129419	ENST00000238714.3:c.1803dupC	2.37:g.61021140_61021140dupC	ENSP00000238714:p.Pro600fs		Somatic					p.SP599fs	NM_022894.3	NP_075045.2	WXS	Illumina GAIIx	Phase_I	Q9BWT3	PAPOG_HUMAN	LUSC - Lung squamous cell carcinoma(5;1.19e-07)|Lung(5;2.86e-06)|Epithelial(17;0.0768)		19	2046_2047	+	all_hematologic(2;0.0797)		599					B2RBH4|Q59G05|Q969N1|Q9H8L2|Q9HAD0	Frame_Shift_Ins	INS	ENST00000238714.3	37	c.1797_1798insC	CCDS1863.1																																																																																				0.401	PAPOLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251577.3	NM_022894		8	210						8	210	---	---	---	---
ANKRD36BP2	645784	broad.mit.edu	37	2	89082293	89082294	+	RNA	INS	-	-	ATTT	rs368332037		TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr2:89082293_89082294insATTT	ENST00000393525.3	+	0	503									ankyrin repeat domain 36B pseudogene 2																		ATTAAAGTCTCATATGTTGAAC	0.332																																						ENST00000393525.3																			0																																																			645784							g.chr2:89082293_89082294insATTT			2q11.2	2010-09-30			ENSG00000230006	ENSG00000230006			33607	pseudogene	pseudogene							Standard	NR_015424		Approved		uc010fhg.4		OTTHUMG00000151690		2.37:g.89082293_89082294insATTT			Somatic								WXS	Illumina GAIIx	Phase_I					0	503	+									RNA	INS	ENST00000393525.3	37																																																																																						0.332	ANKRD36BP2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000323523.1			8	40						8	40	---	---	---	---
SAP130	79595	broad.mit.edu	37	2	128707524	128707525	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr2:128707524_128707525insG	ENST00000259235.3	-	17	2817_2818	c.2688_2689insC	c.(2686-2691)cccattfs	p.I897fs	SAP130_ENST00000357702.5_Frame_Shift_Ins_p.I932fs|SAP130_ENST00000259234.6_Frame_Shift_Ins_p.I905fs	NM_024545.3	NP_078821.2	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa	897	Interactions with SIN3A and HDAC1.				chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|STAGA complex (GO:0030914)	transcription coactivator activity (GO:0003713)			NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		AGCAAAGTAATGGGGGGTCTTG	0.46																																						ENST00000357702.5																			0				NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45						c.(2791-2796)ccttacfs		Sin3A-associated protein, 130kDa																																				SO:0001589	frameshift_variant	79595				histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity	g.chr2:128707524_128707525insG	BC017453	CCDS2153.1, CCDS54397.1	2q14.3	2008-02-05	2006-02-02		ENSG00000136715	ENSG00000136715			29813	protein-coding gene	gene with protein product		609697	"""sin3A-associated protein, 130kDa"""			11230166, 12724404	Standard	NM_001145928		Approved	FLJ12761	uc010fmd.2	Q9H0E3	OTTHUMG00000131571	ENST00000259235.3:c.2689dupC	2.37:g.128707530_128707530dupG	ENSP00000259235:p.Ile897fs		Somatic				SAP130_ENST00000259234.6_Frame_Shift_Ins_p.Y905fs|SAP130_ENST00000259235.3_Frame_Shift_Ins_p.Y897fs	p.Y932fs	NM_001145928.1	NP_001139400.1	WXS	Illumina GAIIx	Phase_I	Q9H0E3	SP130_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0771)	18	2924_2925	-	Colorectal(110;0.1)		897			Interactions with SIN3A and HDAC1.		B7ZLM3|C9K0X9|Q4ZFV4|Q53T46|Q8WVW4|Q9H9G8	Frame_Shift_Ins	INS	ENST00000259235.3	37	c.2793_2794insC	CCDS2153.1																																																																																				0.460	SAP130-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254436.3	NM_024545		7	444						7	444	---	---	---	---
FIGN	55137	broad.mit.edu	37	2	164467542	164467543	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr2:164467542_164467543insC	ENST00000333129.3	-	3	1113_1114	c.799_800insG	c.(799-801)gcafs	p.A267fs	FIGN_ENST00000409634.1_Intron|FIGN_ENST00000482917.1_5'Flank	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin	267	Pro-rich.				mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)	p.A267fs*100(2)		breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						CGGAGGCGGTGCCCCCCCAGGG	0.609																																						ENST00000333129.3																			2	Insertion - Frameshift(2)	p.A267fs*100(2)	large_intestine(2)	breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						c.(799-801)accfs		fidgetin																																				SO:0001589	frameshift_variant	55137					nuclear matrix	ATP binding|nucleoside-triphosphatase activity	g.chr2:164467542_164467543insC	AK001267	CCDS2221.2	2q24	2010-04-21			ENSG00000182263	ENSG00000182263		"""ATPases / AAA-type"""	13285	protein-coding gene	gene with protein product		605295				11017077	Standard	XM_005246661		Approved		uc002uck.1	Q5HY92	OTTHUMG00000074059	ENST00000333129.3:c.800dupG	2.37:g.164467549_164467549dupC	ENSP00000333836:p.Ala267fs		Somatic				FIGN_ENST00000409634.1_Intron	p.T267fs	NM_018086.2	NP_060556.2	WXS	Illumina GAIIx	Phase_I	Q5HY92	FIGN_HUMAN			3	1113_1114	-			267			Pro-rich.		B3KWM0|Q9H6M5|Q9NVZ9	Frame_Shift_Ins	INS	ENST00000333129.3	37	c.799_800insG	CCDS2221.2																																																																																				0.609	FIGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157220.2	NM_018086		8	105						8	105	---	---	---	---
SCN1A	6323	broad.mit.edu	37	2	166903319	166903321	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr2:166903319_166903321delCTG	ENST00000303395.4	-	9	1335_1337	c.1336_1338delCAG	c.(1336-1338)cagdel	p.Q446del	SCN1A_ENST00000423058.2_In_Frame_Del_p.Q446del|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000375405.3_In_Frame_Del_p.Q446del|AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000409050.1_In_Frame_Del_p.Q446del			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	446					adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GTTCAATCATCTGCTGAAATTCG	0.458																																						ENST00000423058.2																			0				NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200						c.(1336-1338)del		sodium channel, voltage-gated, type I, alpha subunit	Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)																																			SO:0001651	inframe_deletion	6323					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166903319_166903321delCTG	AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10585	protein-coding gene	gene with protein product		182389	"""febrile convulsions 3"""	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.1336_1338delCAG	2.37:g.166903322_166903324delCTG	ENSP00000303540:p.Gln446del		Somatic				AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000409050.1_In_Frame_Del_p.Q446del|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000375405.3_In_Frame_Del_p.Q446del|SCN1A_ENST00000303395.4_In_Frame_Del_p.Q446del	p.Q446del	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	WXS	Illumina GAIIx	Phase_I	P35498	SCN1A_HUMAN			9	1353_1355	-			446					E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	In_Frame_Del	DEL	ENST00000303395.4	37	c.1336_1338delCAG	CCDS54413.1																																																																																				0.458	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	NM_006920		45	69						45	69	---	---	---	---
ITGAV	3685	broad.mit.edu	37	2	187521084	187521085	+	Frame_Shift_Ins	INS	-	-	G	rs567294324		TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr2:187521084_187521085insG	ENST00000261023.3	+	17	1949_1950	c.1675_1676insG	c.(1675-1677)aggfs	p.R559fs	ITGAV_ENST00000433736.2_Frame_Shift_Ins_p.R513fs|ITGAV_ENST00000374907.3_Frame_Shift_Ins_p.R523fs|AC017101.10_ENST00000453665.1_RNA	NM_002210.3	NP_002201	P06756	ITAV_HUMAN	integrin, alpha V	559					angiogenesis (GO:0001525)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|apoptotic cell clearance (GO:0043277)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|endodermal cell differentiation (GO:0035987)|entry of symbiont into host cell by promotion of host phagocytosis (GO:0052066)|ERK1 and ERK2 cascade (GO:0070371)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|negative chemotaxis (GO:0050919)|negative regulation of entry of bacterium into host cell (GO:2000536)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of lipid storage (GO:0010888)|negative regulation of lipid transport (GO:0032369)|negative regulation of lipoprotein metabolic process (GO:0050748)|negative regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045715)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of osteoblast proliferation (GO:0033690)|regulation of apoptotic cell clearance (GO:2000425)|regulation of phagocytosis (GO:0050764)|substrate adhesion-dependent cell spreading (GO:0034446)|viral entry into host cell (GO:0046718)	alphav-beta3 integrin-IGF-1-IGF1R complex (GO:0035867)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|integrin alphav-beta3 complex (GO:0034683)|integrin alphav-beta5 complex (GO:0034684)|integrin alphav-beta8 complex (GO:0034686)|integrin complex (GO:0008305)|lamellipodium membrane (GO:0031258)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	extracellular matrix binding (GO:0050840)|extracellular matrix protein binding (GO:1990430)|fibronectin binding (GO:0001968)|metal ion binding (GO:0046872)|protease binding (GO:0002020)|transforming growth factor beta binding (GO:0050431)|virus receptor activity (GO:0001618)|voltage-gated calcium channel activity (GO:0005245)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)	Antithymocyte globulin(DB00098)	GACTATTTCAAGGGGGGGACTG	0.431																																					Melanoma(58;108 1995 6081)	ENST00000261023.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47						c.(1675-1677)gggfs		integrin, alpha V																																				SO:0001589	frameshift_variant	3685				angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance	integrin complex	receptor activity|transforming growth factor beta binding	g.chr2:187521084_187521085insG		CCDS2292.1, CCDS46470.1, CCDS46471.1	2q31-q32	2012-04-20	2012-04-20		ENSG00000138448	ENSG00000138448		"""CD molecules"", ""Integrins"""	6150	protein-coding gene	gene with protein product		193210	"""antigen identified by monoclonal antibody L230"", ""vitronectin receptor"", ""integrin, alpha V (vitronectin receptor, alpha polypeptide, antigen CD51)"""	VNRA, MSK8, VTNR		2454952	Standard	NM_001144999		Approved	CD51	uc002upq.4	P06756	OTTHUMG00000132635	ENST00000261023.3:c.1682dupG	2.37:g.187521091_187521091dupG	ENSP00000261023:p.Arg559fs		Somatic				ITGAV_ENST00000374907.3_Frame_Shift_Ins_p.G523fs|AC017101.10_ENST00000453665.1_RNA|ITGAV_ENST00000433736.2_Frame_Shift_Ins_p.G513fs	p.G559fs	NM_002210.3	NP_002201.1	WXS	Illumina GAIIx	Phase_I	P06756	ITAV_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)	17	1949_1950	+			559					A0AV67|B0LPF4|B7Z883|B7ZLX0|D3DPG8|E7EWZ6|Q53SK4|Q59EB7|Q6LD15	Frame_Shift_Ins	INS	ENST00000261023.3	37	c.1675_1676insG	CCDS2292.1																																																																																				0.431	ITGAV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255882.2	NM_002210		7	274						7	274	---	---	---	---
HECW2	57520	broad.mit.edu	37	2	197171262	197171263	+	Frame_Shift_Ins	INS	-	-	G	rs144884935	byFrequency	TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr2:197171262_197171263insG	ENST00000260983.3	-	13	2945_2946	c.2763_2764insC	c.(2761-2766)cccgtgfs	p.V922fs	HECW2_ENST00000409111.1_Frame_Shift_Ins_p.V566fs	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	922	Interaction with TP73.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						AGGAACTTCACGGGGGGAGACT	0.53																																						ENST00000260983.2																			0				biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						c.(2761-2766)cctgaafs		HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2																																				SO:0001589	frameshift_variant	57520				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity	g.chr2:197171262_197171263insG	AL390186	CCDS33354.1	2q32.3	2004-12-13			ENSG00000138411	ENSG00000138411			29853	protein-coding gene	gene with protein product						10718198, 12890487	Standard	NM_020760		Approved	KIAA1301, NEDL2	uc002utm.1	Q9P2P5	OTTHUMG00000154435	ENST00000260983.3:c.2764dupC	2.37:g.197171268_197171268dupG	ENSP00000260983:p.Val922fs		Somatic				HECW2_ENST00000409111.1_Frame_Shift_Ins_p.E566fs	p.E922fs	NM_020760.1	NP_065811.1	WXS	Illumina GAIIx	Phase_I	Q9P2P5	HECW2_HUMAN			13	2945_2946	-			922			Interaction with TP73.		B8ZZB4|Q17RT5|Q68DF8|Q9NPS9	Frame_Shift_Ins	INS	ENST00000260983.3	37	c.2763_2764insC	CCDS33354.1																																																																																				0.530	HECW2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335199.3	NM_020760		7	290						7	290	---	---	---	---
RQCD1	9125	broad.mit.edu	37	2	219449363	219449364	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr2:219449363_219449364insT	ENST00000273064.6	+	4	724_725	c.349_350insT	c.(349-351)cttfs	p.L117fs	RQCD1_ENST00000542068.1_Frame_Shift_Ins_p.L117fs|RQCD1_ENST00000509807.2_Frame_Shift_Ins_p.L117fs|RQCD1_ENST00000295701.5_Frame_Shift_Ins_p.L117fs	NM_005444.2	NP_005435.1	Q92600	RCD1_HUMAN	RCD1 required for cell differentiation1 homolog (S. pombe)	117					cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of ligand-dependent nuclear receptor transcription coactivator activity (GO:2000327)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|sex differentiation (GO:0007548)|transcription, DNA-templated (GO:0006351)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)				endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|prostate(3)|skin(1)	15		Renal(207;0.0915)		Epithelial(149;1.13e-06)|all cancers(144;0.000192)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ACACATCCCACTTTTTTTGTAC	0.416																																						ENST00000273064.6																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|prostate(3)|skin(1)	15						c.(349-351)tttfs		RCD1 required for cell differentiation1 homolog (S. pombe)																																				SO:0001589	frameshift_variant	9125				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|sex differentiation|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding	g.chr2:219449363_219449364insT	D87957	CCDS33379.1, CCDS63123.1	2q35	2010-04-23	2001-11-28		ENSG00000144580	ENSG00000144580			10445	protein-coding gene	gene with protein product	"""cancer/testis antigen 129"""	612054	"""rcd1 (required for cell differentiation, S.pombe) homolog 1"""			9447985	Standard	NM_001271634		Approved	RCD1, RCD1+, CNOT9, CT129	uc010zki.3	Q92600	OTTHUMG00000154750	ENST00000273064.6:c.356dupT	2.37:g.219449370_219449370dupT	ENSP00000273064:p.Leu117fs		Somatic				RQCD1_ENST00000295701.5_Frame_Shift_Ins_p.F117fs|RQCD1_ENST00000542068.1_Frame_Shift_Ins_p.F117fs|RQCD1_ENST00000509807.2_Frame_Shift_Ins_p.F117fs	p.F117fs	NM_005444.2	NP_005435.1	WXS	Illumina GAIIx	Phase_I	Q92600	RCD1_HUMAN		Epithelial(149;1.13e-06)|all cancers(144;0.000192)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	4	724_725	+		Renal(207;0.0915)	117					B2RPI0|B5MDQ4|B7Z1E5|Q96IX4	Frame_Shift_Ins	INS	ENST00000273064.6	37	c.349_350insT	CCDS33379.1																																																																																				0.416	RQCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336920.1	NM_005444		7	582						7	582	---	---	---	---
INPP5D	3635	broad.mit.edu	37	2	234072358	234072359	+	Frame_Shift_Ins	INS	-	-	C	rs373650820		TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr2:234072358_234072359insC	ENST00000359570.5	+	14	1210_1211	c.1210_1211insC	c.(1210-1212)gccfs	p.A404fs	INPP5D_ENST00000455936.2_Frame_Shift_Ins_p.A168fs|INPP5D_ENST00000450745.1_Frame_Shift_Ins_p.A168fs|INPP5D_ENST00000538935.1_Frame_Shift_Ins_p.A403fs			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	416					apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|determination of adult lifespan (GO:0008340)|immunoglobulin mediated immune response (GO:0016064)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of bone resorption (GO:0045779)|negative regulation of immune response (GO:0050777)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of monocyte differentiation (GO:0045656)|negative regulation of neutrophil differentiation (GO:0045659)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of signal transduction (GO:0009968)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of erythrocyte differentiation (GO:0045648)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|membrane (GO:0016020)	inositol-polyphosphate 5-phosphatase activity (GO:0004445)|phosphatidylinositol trisphosphate phosphatase activity (GO:0034594)			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		TGAAGGTAACGCCCCCCCTCCC	0.535																																					NSCLC(82;1215 1426 16163 20348 41018)	ENST00000359570.5																			0				central_nervous_system(1)|ovary(1)	2						c.(1210-1212)cccfs		inositol polyphosphate-5-phosphatase, 145kDa																																				SO:0001589	frameshift_variant	3635				apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding	g.chr2:234072358_234072359insC	U57650	CCDS74672.1	2q37.1	2013-02-14	2002-08-29		ENSG00000168918	ENSG00000168918		"""SH2 domain containing"""	6079	protein-coding gene	gene with protein product		601582	"""inositol polyphosphate-5-phosphatase, 145kD"""			8643691, 8874179	Standard	NM_001017915		Approved	SHIP, hp51CN	uc010zmp.2	Q92835	OTTHUMG00000133688	ENST00000359570.5:c.1217dupC	2.37:g.234072365_234072365dupC	ENSP00000352575:p.Ala404fs		Somatic				INPP5D_ENST00000450745.1_Frame_Shift_Ins_p.P168fs|INPP5D_ENST00000455936.2_Frame_Shift_Ins_p.P168fs|INPP5D_ENST00000538935.1_Frame_Shift_Ins_p.P403fs	p.P404fs			WXS	Illumina GAIIx	Phase_I	Q92835	SHIP1_HUMAN		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)	14	1210_1211	+		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)	416					O00145|Q13544|Q13545|Q6P5A4|Q92656|Q9UE80	Frame_Shift_Ins	INS	ENST00000359570.5	37	c.1210_1211insC																																																																																					0.535	INPP5D-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001017915		15	283						15	283	---	---	---	---
SETD5	55209	broad.mit.edu	37	3	9517294	9517295	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr3:9517294_9517295insC	ENST00000406341.1	+	22	4038_4039	c.3848_3849insC	c.(3847-3852)aaccccfs	p.NP1283fs	SETD5_ENST00000407969.1_Frame_Shift_Ins_p.NP1302fs|SETD5_ENST00000402198.1_Frame_Shift_Ins_p.NP1283fs|SETD5_ENST00000402466.1_Frame_Shift_Ins_p.NP1185fs|SETD5_ENST00000302463.6_Frame_Shift_Ins_p.NP1185fs			Q9C0A6	SETD5_HUMAN	SET domain containing 5	1283	Ser-rich.									NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		AGACCTGGAAACCCCCCCTCTC	0.55																																						ENST00000402466.1																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(3553-3555)accfs		SET domain containing 5																																				SO:0001589	frameshift_variant	55209							g.chr3:9517294_9517295insC	BC020956	CCDS46741.1, CCDS74892.1	3p25.3	2011-12-13			ENSG00000168137	ENSG00000168137			25566	protein-coding gene	gene with protein product		615743				11214970	Standard	XM_005265299		Approved	FLJ10707	uc003brt.3	Q9C0A6	OTTHUMG00000150491	ENST00000406341.1:c.3855dupC	3.37:g.9517301_9517301dupC	ENSP00000383939:p.Asn1283fs		Somatic				SETD5_ENST00000402198.1_Frame_Shift_Ins_p.T1283fs|SETD5_ENST00000407969.1_Frame_Shift_Ins_p.T1302fs|SETD5_ENST00000302463.6_Frame_Shift_Ins_p.T1185fs|SETD5_ENST00000406341.1_Frame_Shift_Ins_p.T1283fs	p.T1185fs			WXS	Illumina GAIIx	Phase_I	Q9C0A6	SETD5_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.112)	24	4322_4323	+	Medulloblastoma(99;0.227)		1283			Ser-rich.		Q6AI17|Q8WUB6|Q9H3X4|Q9H6V7|Q9H7S3|Q9NVI9	Frame_Shift_Ins	INS	ENST00000406341.1	37	c.3554_3555insC	CCDS46741.1																																																																																				0.550	SETD5-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318425.1	XM_371614		11	259						11	259	---	---	---	---
FANCD2	2177	broad.mit.edu	37	3	10088407	10088410	+	Splice_Site	DEL	AGTA	AGTA	-	rs375350046|rs369823368|rs146316187		TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr3:10088407_10088410delAGTA	ENST00000419585.1	+	15	1439	c.1278delAGTA	c.(1276-1278)tta>tt	p.L426fs	FANCD2_ENST00000383806.1_Splice_Site_p.L426fs|FANCD2_ENST00000287647.3_Splice_Site_p.L426fs|FANCD2_ENST00000383807.1_Splice_Site_p.L426fs			Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	426					DNA repair (GO:0006281)|gamete generation (GO:0007276)|response to gamma radiation (GO:0010332)|synapsis (GO:0007129)	condensed chromosome (GO:0000793)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA polymerase binding (GO:0070182)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		TTCATTACTTAGTAAGTGTCAGAG	0.358			"""D, Mis, N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000287647.3			yes	Rec		Fanconi anaemia D2	3	3p26	2177	"""D, Mis, N, F"""	"""Fanconi anemia, complementation group D2"""			L		"""AML, leukemia"""			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51						c.e15+1	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group D2																																				SO:0001630	splice_region_variant	2177	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair|response to gamma radiation	nucleoplasm	protein binding	g.chr3:10088407_10088410delAGTA	AF340183	CCDS2595.1, CCDS33696.1	3p25.3	2014-09-17		2001-10-05	ENSG00000144554	ENSG00000144554		"""Fanconi anemia, complementation groups"""	3585	protein-coding gene	gene with protein product		613984		FACD, FANCD		7581463, 11239453, 18475298	Standard	XM_005264946		Approved	FAD, FA-D2	uc003buw.3	Q9BXW9	OTTHUMG00000128670	ENST00000419585.1:c.1278+1AGTA>-	3.37:g.10088407_10088410delAGTA			Somatic				FANCD2_ENST00000383806.1_Splice_Site_p.426_splice|FANCD2_ENST00000383807.1_Splice_Site_p.426_splice|FANCD2_ENST00000419585.1_Splice_Site_p.426_splice	p.426_splice	NM_033084.3	NP_149075.2	WXS	Illumina GAIIx	Phase_I	Q9BXW9	FACD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.148)	15	1371	+			426					Q2LA86|Q69YP9|Q6PJN7|Q9BQ06|Q9H9T9	Splice_Site	DEL	ENST00000419585.1	37	c.1278_splice	CCDS33696.1																																																																																				0.358	FANCD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339873.1		Frame_Shift_Del	36	66						36	66	---	---	---	---
ZFYVE20	64145	broad.mit.edu	37	3	15115298	15115299	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr3:15115298_15115299insC	ENST00000253699.3	-	14	2958_2959	c.2345_2346insG	c.(2344-2346)ggcfs	p.G782fs	ZFYVE20_ENST00000476527.2_Frame_Shift_Ins_p.G782fs	NM_022340.2	NP_071735.2	Q9H1K0	RBNS5_HUMAN	zinc finger, FYVE domain containing 20	782	Necessary for the interaction with EHD1.|Necessary for the interaction with RAB5A.				blood coagulation (GO:0007596)|endosomal transport (GO:0016197)|protein transport (GO:0015031)	endosome (GO:0005768)|endosome membrane (GO:0010008)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			NS(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|skin(3)|stomach(1)|urinary_tract(2)	26						GTCAGTCAGTGCCCCCCTTCTG	0.624																																						ENST00000253699.3																			0				NS(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|skin(3)|stomach(1)|urinary_tract(2)	26						c.(2344-2346)gacfs		zinc finger, FYVE domain containing 20																																				SO:0001589	frameshift_variant	64145				blood coagulation|endosome transport|protein transport	early endosome membrane|plasma membrane	protein binding|zinc ion binding	g.chr3:15115298_15115299insC	AY009133	CCDS2623.1	3p25.1	2014-01-15			ENSG00000131381	ENSG00000131381		"""Zinc fingers, FYVE domain containing"""	20759	protein-coding gene	gene with protein product		609511				11062261	Standard	XR_427283		Approved	Rabenosyn-5	uc003bzm.1	Q9H1K0	OTTHUMG00000129860	ENST00000253699.3:c.2346dupG	3.37:g.15115304_15115304dupC	ENSP00000253699:p.Gly782fs		Somatic				ZFYVE20_ENST00000476527.2_Frame_Shift_Ins_p.D782fs	p.D782fs	NM_022340.2	NP_071735.2	WXS	Illumina GAIIx	Phase_I	Q9H1K0	RBNS5_HUMAN			14	2958_2959	-			782			Necessary for the interaction with EHD1.|Necessary for the interaction with RAB5A.		B4DWY8|C9J4P5|Q3KP30|Q59EY8|Q8NAQ1	Frame_Shift_Ins	INS	ENST00000253699.3	37	c.2345_2346insG	CCDS2623.1																																																																																				0.624	ZFYVE20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252102.2	NM_022340		8	385						8	385	---	---	---	---
TRANK1	9881	broad.mit.edu	37	3	36876345	36876345	+	Frame_Shift_Del	DEL	G	G	-			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr3:36876345delG	ENST00000429976.2	-	20	5686	c.5439delC	c.(5437-5439)ttcfs	p.F1813fs	TRANK1_ENST00000428977.2_Frame_Shift_Del_p.F1263fs|TRANK1_ENST00000301807.6_Frame_Shift_Del_p.F1263fs	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	1813							ATP binding (GO:0005524)|hydrolase activity (GO:0016787)			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						CAAAGCATCTGAAAGCGTCTT	0.388																																						ENST00000429976.2																			0				NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						c.(5437-5439)ttfs		tetratricopeptide repeat and ankyrin repeat containing 1							101.0	100.0	100.0					3																	36876345		1870	4099	5969	SO:0001589	frameshift_variant	9881				DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr3:36876345delG	AK096678	CCDS46789.1, CCDS46789.2	3p22.2	2013-01-11			ENSG00000168016	ENSG00000168016		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29011	protein-coding gene	gene with protein product	"""lupus brain antigen 1"", ""KIAA0342"""					9205841	Standard	NM_014831		Approved	LBA1, KIAA0342	uc003cgj.3	O15050	OTTHUMG00000155848	ENST00000429976.2:c.5439delC	3.37:g.36876345delG	ENSP00000416168:p.Phe1813fs		Somatic				TRANK1_ENST00000301807.6_Frame_Shift_Del_p.F1263fs|TRANK1_ENST00000428977.2_Frame_Shift_Del_p.F1263fs	p.F1813fs			WXS	Illumina GAIIx	Phase_I	O15050	TRNK1_HUMAN			20	5686	-			1813					Q8N8K0	Frame_Shift_Del	DEL	ENST00000429976.2	37	c.5439delC	CCDS46789.2																																																																																				0.388	TRANK1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014831		25	95						25	95	---	---	---	---
TRAK1	22906	broad.mit.edu	37	3	42242449	42242450	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr3:42242449_42242450insC	ENST00000327628.5	+	12	1730_1731	c.1330_1331insC	c.(1330-1332)accfs	p.T444fs	TRAK1_ENST00000487159.1_3'UTR|TRAK1_ENST00000341421.3_Frame_Shift_Ins_p.T386fs|TRAK1_ENST00000449246.1_Frame_Shift_Ins_p.T370fs|TRAK1_ENST00000396175.1_Frame_Shift_Ins_p.T386fs	NM_001042646.2	NP_001036111.1	Q9UPV9	TRAK1_HUMAN	trafficking protein, kinesin binding 1	444	Interaction with HGS.				endosome to lysosome transport (GO:0008333)|protein O-linked glycosylation (GO:0006493)|protein targeting (GO:0006605)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						CTGCGTCAGCACCCCCCGGTCC	0.594																																					GBM(44;195 884 22595 31865 41850)	ENST00000327628.5																			0				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						c.(1330-1332)cccfs		trafficking protein, kinesin binding 1																																				SO:0001589	frameshift_variant	22906				endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter	early endosome|mitochondrion|nucleus		g.chr3:42242449_42242450insC		CCDS2695.1, CCDS43072.1, CCDS58826.1, CCDS74922.1	3p22.1	2012-03-05			ENSG00000182606	ENSG00000182606			29947	protein-coding gene	gene with protein product	"""OGT(O Glc NAc transferase) interacting protein 106 KDa"", ""O-linked N-acetylglucosamine transferase interacting protein 106"", ""milton homolog 1 (Drosophila)"""	608112				10470851, 12435728, 16380713, 20230862	Standard	NM_014965		Approved	OIP106, KIAA1042, MILT1	uc003cky.4	Q9UPV9	OTTHUMG00000131795	ENST00000327628.5:c.1336dupC	3.37:g.42242455_42242455dupC	ENSP00000328998:p.Thr444fs		Somatic				TRAK1_ENST00000487159.1_3'UTR|TRAK1_ENST00000396175.1_Frame_Shift_Ins_p.P386fs|TRAK1_ENST00000341421.3_Frame_Shift_Ins_p.P386fs|TRAK1_ENST00000449246.1_Frame_Shift_Ins_p.P370fs	p.P444fs	NM_001042646.2	NP_001036111.1	WXS	Illumina GAIIx	Phase_I	Q9UPV9	TRAK1_HUMAN			12	1730_1731	+			444			Interaction with HGS.		E9PDS2|J3KNT7|Q63HR0|Q659B5|Q96B69	Frame_Shift_Ins	INS	ENST00000327628.5	37	c.1330_1331insC	CCDS43072.1																																																																																				0.594	TRAK1-004	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343413.1	NM_014965		7	221						7	221	---	---	---	---
ALAS1	211	broad.mit.edu	37	3	52246391	52246392	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr3:52246391_52246392insC	ENST00000394965.2	+	11	2077_2078	c.1717_1718insC	c.(1717-1719)gccfs	p.A573fs	ALAS1_ENST00000484952.1_Frame_Shift_Ins_p.A573fs|ALAS1_ENST00000469224.1_Frame_Shift_Ins_p.A573fs|ALAS1_ENST00000310271.2_Frame_Shift_Ins_p.A573fs	NM_000688.5	NP_000679.1	P13196	HEM1_HUMAN	aminolevulinate, delta-, synthase 1	573					cellular lipid metabolic process (GO:0044255)|heme biosynthetic process (GO:0006783)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	5-aminolevulinate synthase activity (GO:0003870)|pyridoxal phosphate binding (GO:0030170)			endometrium(3)|kidney(3)|large_intestine(7)|liver(2)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.000583)|KIRC - Kidney renal clear cell carcinoma(197;0.000751)	Glycine(DB00145)	CCTACGGATTGCCCCCACCCCT	0.515																																						ENST00000394965.2																			0				endometrium(3)|kidney(3)|large_intestine(7)|liver(2)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	23						c.(1717-1719)cccfs		aminolevulinate, delta-, synthase 1	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)																																			SO:0001589	frameshift_variant	211				heme biosynthetic process	mitochondrial matrix	5-aminolevulinate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups	g.chr3:52246391_52246392insC	X56351	CCDS2847.1	3p21	2004-11-18			ENSG00000023330	ENSG00000023330	2.3.1.37		396	protein-coding gene	gene with protein product		125290		ALAS3, ALAS			Standard	NM_000688		Approved		uc003dcz.2	P13196	OTTHUMG00000158108	ENST00000394965.2:c.1722dupC	3.37:g.52246396_52246396dupC	ENSP00000378416:p.Ala573fs		Somatic				ALAS1_ENST00000484952.1_Frame_Shift_Ins_p.P573fs|ALAS1_ENST00000469224.1_Frame_Shift_Ins_p.P573fs|ALAS1_ENST00000310271.2_Frame_Shift_Ins_p.P573fs	p.P573fs	NM_000688.5	NP_000679.1	WXS	Illumina GAIIx	Phase_I	P13196	HEM1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.000583)|KIRC - Kidney renal clear cell carcinoma(197;0.000751)	11	2077_2078	+			573						Frame_Shift_Ins	INS	ENST00000394965.2	37	c.1717_1718insC	CCDS2847.1																																																																																				0.515	ALAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350207.1			12	1927						12	1927	---	---	---	---
PRKCD	5580	broad.mit.edu	37	3	53220652	53220653	+	Frame_Shift_Ins	INS	-	-	G	rs377107086		TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr3:53220652_53220653insG	ENST00000394729.2	+	13	1621_1622	c.1293_1294insG	c.(1294-1296)gggfs	p.G432fs	PRKCD_ENST00000330452.3_Frame_Shift_Ins_p.G432fs	NM_212539.1	NP_997704.1	Q05655	KPCD_HUMAN	protein kinase C, delta	432	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|apoptotic process (GO:0006915)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cell cycle (GO:0007049)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular senescence (GO:0090398)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|immunoglobulin mediated immune response (GO:0016064)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-10 production (GO:0032613)|interleukin-12 production (GO:0032615)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|mRNA metabolic process (GO:0016071)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of filopodium assembly (GO:0051490)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of inflammatory response (GO:0050728)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of platelet aggregation (GO:0090331)|negative regulation of protein binding (GO:0032091)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil activation (GO:0042119)|peptidyl-threonine phosphorylation (GO:0018107)|platelet activation (GO:0030168)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of ceramide biosynthetic process (GO:2000304)|positive regulation of glucosylceramide catabolic process (GO:2000753)|positive regulation of phospholipid scramblase activity (GO:1900163)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of response to DNA damage stimulus (GO:2001022)|positive regulation of sphingomyelin catabolic process (GO:2000755)|positive regulation of superoxide anion generation (GO:0032930)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of receptor activity (GO:0010469)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|termination of signal transduction (GO:0023021)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-independent protein kinase C activity (GO:0004699)|enzyme activator activity (GO:0008047)|enzyme binding (GO:0019899)|insulin receptor substrate binding (GO:0043560)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Ovarian(412;0.0728)		OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173)	Ingenol Mebutate(DB05013)|Tamoxifen(DB00675)	AGTTCCTCAACGGGGGGGACCT	0.604																																						ENST00000394729.2																			0				breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						c.(1291-1296)aaggggfs		protein kinase C, delta																																				SO:0001589	frameshift_variant	5580				activation of phospholipase C activity|cellular component disassembly involved in apoptosis|cellular senescence|interferon-gamma-mediated signaling pathway|intracellular signal transduction|mRNA metabolic process|negative regulation of insulin receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein binding|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of ceramide biosynthetic process|positive regulation of glucosylceramide catabolic process|positive regulation of protein dephosphorylation|positive regulation of sphingomyelin catabolic process|protein stabilization|regulation of receptor activity|termination of signal transduction	cytosol|endoplasmic reticulum|nucleoplasm	ATP binding|calcium-independent protein kinase C activity|enzyme activator activity|enzyme binding|insulin receptor substrate binding|metal ion binding|protein C-terminus binding	g.chr3:53220652_53220653insG		CCDS2870.1	3p21.31	2009-07-10			ENSG00000163932	ENSG00000163932	2.7.11.1		9399	protein-coding gene	gene with protein product		176977				8188219	Standard	NM_006254		Approved		uc003dgm.3	Q05655	OTTHUMG00000133659	ENST00000394729.2:c.1300dupG	3.37:g.53220659_53220659dupG	ENSP00000378217:p.Gly432fs		Somatic				PRKCD_ENST00000330452.3_Frame_Shift_Ins_p.KG431fs	p.KG431fs	NM_212539.1	NP_997704.1	WXS	Illumina GAIIx	Phase_I	Q05655	KPCD_HUMAN		OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173)	13	1621_1622	+		Ovarian(412;0.0728)	431			Protein kinase.		B0KZ81|B2R834|Q15144|Q86XJ6	Frame_Shift_Ins	INS	ENST00000394729.2	37	c.1293_1294insG	CCDS2870.1																																																																																				0.604	PRKCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257818.1			7	264						7	264	---	---	---	---
ARHGEF3	50650	broad.mit.edu	37	3	56789130	56789131	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr3:56789130_56789131insG	ENST00000296315.3	-	3	421_422	c.253_254insC	c.(253-255)cgafs	p.R85fs	ARHGEF3_ENST00000497267.1_Frame_Shift_Ins_p.R56fs|ARHGEF3_ENST00000338458.4_Frame_Shift_Ins_p.R117fs|ARHGEF3_ENST00000496106.1_Frame_Shift_Ins_p.R91fs|ARHGEF3_ENST00000413728.2_Frame_Shift_Ins_p.R91fs|ARHGEF3_ENST00000498517.1_5'UTR|ARHGEF3_ENST00000495373.1_Frame_Shift_Ins_p.R85fs	NM_019555.2	NP_062455.1	Q9NR81	ARHG3_HUMAN	Rho guanine nucleotide exchange factor (GEF) 3	85					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|intracellular (GO:0005622)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	25				KIRC - Kidney renal clear cell carcinoma(284;0.0161)|Kidney(284;0.019)|OV - Ovarian serous cystadenocarcinoma(275;0.193)		GGACCAGGGTCGGGGGGCGAGG	0.579																																						ENST00000413728.2																			0				cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	25						c.(271-273)accfs		Rho guanine nucleotide exchange factor (GEF) 3																																				SO:0001589	frameshift_variant	50650				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|Rho protein signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity	g.chr3:56789130_56789131insG	AB209661	CCDS2878.1, CCDS46854.1, CCDS46855.1, CCDS74948.1	3p14.3	2012-09-20			ENSG00000163947	ENSG00000163947		"""Rho guanine nucleotide exchange factors"""	683	protein-coding gene	gene with protein product	"""exchange factor found in platelets and leukemic and neuronal tissues, XPLN"", ""RhoGEF protein"""	612115				10873612	Standard	NM_019555		Approved	STA3, XPLN, GEF3, DKFZP434F2429	uc003dih.2	Q9NR81	OTTHUMG00000158857	ENST00000296315.3:c.254dupC	3.37:g.56789136_56789136dupG	ENSP00000296315:p.Arg85fs		Somatic				ARHGEF3_ENST00000296315.3_Frame_Shift_Ins_p.T85fs|ARHGEF3_ENST00000338458.4_Frame_Shift_Ins_p.T117fs|ARHGEF3_ENST00000498517.1_5'UTR|ARHGEF3_ENST00000495373.1_Frame_Shift_Ins_p.T85fs|ARHGEF3_ENST00000497267.1_Frame_Shift_Ins_p.T56fs|ARHGEF3_ENST00000496106.1_Frame_Shift_Ins_p.T91fs	p.T91fs	NM_001128616.1	NP_001122088.1	WXS	Illumina GAIIx	Phase_I	Q9NR81	ARHG3_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0161)|Kidney(284;0.019)|OV - Ovarian serous cystadenocarcinoma(275;0.193)	3	814_815	-			85					A8K5U7|Q4FZB6|Q4QQI5|Q4QQQ0|Q59F00|Q6NUN3|Q7Z4U2|Q7Z5T2|Q9H7T4	Frame_Shift_Ins	INS	ENST00000296315.3	37	c.271_272insC	CCDS2878.1																																																																																				0.579	ARHGEF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352431.2	NM_019555		16	644						16	644	---	---	---	---
ROBO2	6092	broad.mit.edu	37	3	77657037	77657038	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr3:77657037_77657038insC	ENST00000461745.1	+	21	4125_4126	c.3225_3226insC	c.(3226-3228)cccfs	p.P1076fs	ROBO2_ENST00000469233.1_3'UTR|ROBO2_ENST00000487694.3_Frame_Shift_Ins_p.P1092fs|ROBO2_ENST00000332191.8_Frame_Shift_Ins_p.P1076fs	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	1076					apoptotic process involved in luteolysis (GO:0061364)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|cellular response to hormone stimulus (GO:0032870)|central nervous system development (GO:0007417)|homophilic cell adhesion (GO:0007156)|metanephros development (GO:0001656)|negative regulation of negative chemotaxis (GO:0050925)|negative regulation of synapse assembly (GO:0051964)|olfactory bulb interneuron development (GO:0021891)|positive regulation of axonogenesis (GO:0050772)|retinal ganglion cell axon guidance (GO:0031290)|ureteric bud development (GO:0001657)	axolemma (GO:0030673)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)	p.V1079fs*22(1)|p.V1095fs*22(1)		NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		TCCCTCTACCTCCCCCCCCAGT	0.431																																						ENST00000461745.1																			2	Insertion - Frameshift(2)	p.V1079fs*22(1)|p.V1095fs*22(1)	biliary_tract(2)	NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117						c.(3223-3228)ccccccfs		roundabout, axon guidance receptor, homolog 2 (Drosophila)			,	35,3481		0,35,1723					,	5.9	1.0			72	22,7778		0,22,3878	no	frameshift,frameshift	ROBO2	NM_002942.4,NM_001128929.2	,	0,57,5601	A1A1,A1R,RR		0.2821,0.9954,0.5037	,	,		57,11259				SO:0001589	frameshift_variant	6092				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding	g.chr3:77657037_77657038insC	AF040991	CCDS43109.1, CCDS54609.1	3p12.3	2013-02-11	2001-11-28		ENSG00000185008	ENSG00000185008		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10250	protein-coding gene	gene with protein product		602431	"""roundabout (axon guidance receptor, Drosophila) homolog 2"""			9458045	Standard	NM_002942		Approved	KIAA1568	uc003dpy.4	Q9HCK4	OTTHUMG00000158935	ENST00000461745.1:c.3233dupC	3.37:g.77657045_77657045dupC	ENSP00000417164:p.Pro1076fs		Somatic				ROBO2_ENST00000469233.1_3'UTR|ROBO2_ENST00000332191.8_Frame_Shift_Ins_p.PP1075fs|ROBO2_ENST00000487694.3_Frame_Shift_Ins_p.PP1091fs	p.PP1075fs	NM_002942.4	NP_002933.1	WXS	Illumina GAIIx	Phase_I	Q9HCK4	ROBO2_HUMAN		Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)	21	4125_4126	+			1075					O43608|Q19AB4|Q19AB5	Frame_Shift_Ins	INS	ENST00000461745.1	37	c.3225_3226insC	CCDS43109.1																																																																																				0.431	ROBO2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352600.2	XM_031246		11	85						11	85	---	---	---	---
TAGLN3	29114	broad.mit.edu	37	3	111718404	111718405	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr3:111718404_111718405insC	ENST00000393917.2	+	2	687_688	c.135_136insC	c.(136-138)cccfs	p.P46fs	TAGLN3_ENST00000273368.4_Frame_Shift_Ins_p.P46fs|TAGLN3_ENST00000486460.1_5'Flank|TAGLN3_ENST00000455401.2_Frame_Shift_Ins_p.P46fs|TAGLN3_ENST00000478951.1_Frame_Shift_Ins_p.P46fs	NM_013259.2	NP_037391.2	Q9UI15	TAGL3_HUMAN	transgelin 3	46	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				central nervous system development (GO:0007417)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)				endometrium(2)|lung(5)|urinary_tract(1)	8						TAGAGCACCCGCCCCCCGGCAG	0.614																																						ENST00000393917.2																			0				endometrium(2)|lung(5)|urinary_tract(1)	8						c.(133-138)ccccccfs		transgelin 3																																				SO:0001589	frameshift_variant	29114				central nervous system development|muscle organ development			g.chr3:111718404_111718405insC	AF303058	CCDS33816.1	3q13.2	2008-02-05			ENSG00000144834	ENSG00000144834			29868	protein-coding gene	gene with protein product		607953				8015377, 11238712	Standard	NM_013259		Approved	NP25, NP22	uc003dyo.3	Q9UI15	OTTHUMG00000159281	ENST00000393917.2:c.141dupC	3.37:g.111718410_111718410dupC	ENSP00000377494:p.Pro46fs		Somatic				TAGLN3_ENST00000478951.1_Frame_Shift_Ins_p.PP45fs|TAGLN3_ENST00000273368.4_Frame_Shift_Ins_p.PP45fs|TAGLN3_ENST00000455401.2_Frame_Shift_Ins_p.PP45fs	p.PP45fs	NM_013259.2	NP_037391.2	WXS	Illumina GAIIx	Phase_I	Q9UI15	TAGL3_HUMAN			2	687_688	+			45			CH.		D3DN64|Q96A74	Frame_Shift_Ins	INS	ENST00000393917.2	37	c.135_136insC	CCDS33816.1																																																																																				0.614	TAGLN3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354331.1	NM_013259		10	215						10	215	---	---	---	---
KIAA2018	205717	broad.mit.edu	37	3	113375177	113375178	+	Frame_Shift_Ins	INS	-	-	G	rs370810362		TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr3:113375177_113375178insG	ENST00000478658.1	-	5	5368_5369	c.5351_5352insC	c.(5350-5352)ccafs	p.P1784fs	KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000316407.4_Frame_Shift_Ins_p.P1784fs			Q68DE3	K2018_HUMAN	KIAA2018	1784						membrane (GO:0016020)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)	p.P1784Q(1)		NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						GGTCAATTGGTGGGGGGCCAGT	0.426																																						ENST00000316407.4																			1	Substitution - Missense(1)	p.P1784Q(1)	lung(1)	NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						c.(5350-5352)cccfs		KIAA2018																																				SO:0001589	frameshift_variant	205717				regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	g.chr3:113375177_113375178insG	AB095938	CCDS43133.1	3q13.2	2014-01-02			ENSG00000176542	ENSG00000176542			30494	protein-coding gene	gene with protein product							Standard	XM_005247208		Approved		uc003eam.3	Q68DE3	OTTHUMG00000159322	ENST00000478658.1:c.5352dupC	3.37:g.113375183_113375183dupG	ENSP00000420721:p.Pro1784fs		Somatic				KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000478658.1_Frame_Shift_Ins_p.P1784fs	p.P1784fs	NM_001009899.2	NP_001009899.2	WXS	Illumina GAIIx	Phase_I	Q68DE3	K2018_HUMAN			7	5761_5762	-			1784					Q7Z3L9|Q8IVF3|Q9H8T4	Frame_Shift_Ins	INS	ENST00000478658.1	37	c.5351_5352insC	CCDS43133.1																																																																																				0.426	KIAA2018-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354591.1	NM_001009899		8	639						8	639	---	---	---	---
GPR156	165829	broad.mit.edu	37	3	119885959	119885960	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr3:119885959_119885960insC	ENST00000464295.1	-	10	2809_2810	c.2364_2365insG	c.(2362-2367)gggctgfs	p.L789fs	GPR156_ENST00000315843.3_Frame_Shift_Ins_p.L789fs|GPR156_ENST00000461057.1_Frame_Shift_Ins_p.L785fs			Q8NFN8	GP156_HUMAN	G protein-coupled receptor 156	789						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled GABA receptor activity (GO:0004965)			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1)	32				GBM - Glioblastoma multiforme(114;0.19)		CAGGAAGCCAGCCCCCCAGTAG	0.55																																						ENST00000464295.1																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1)	32						c.(2362-2367)ggtggcfs		G protein-coupled receptor 156																																				SO:0001589	frameshift_variant	165829					integral to membrane|plasma membrane	G-protein coupled receptor activity|GABA-B receptor activity	g.chr3:119885959_119885960insC	AF488739	CCDS2997.1, CCDS54629.1	3q13.33	2012-08-21			ENSG00000175697	ENSG00000175697		"""GPCR / Class C : Orphans"""	20844	protein-coding gene	gene with protein product		610464				12591167	Standard	NM_153002		Approved	PGR28, GABABL	uc011bjf.2	Q8NFN8	OTTHUMG00000159406	ENST00000464295.1:c.2365dupG	3.37:g.119885965_119885965dupC	ENSP00000417261:p.Leu789fs		Somatic				GPR156_ENST00000461057.1_Frame_Shift_Ins_p.G785fs|GPR156_ENST00000315843.3_Frame_Shift_Ins_p.G789fs	p.G789fs			WXS	Illumina GAIIx	Phase_I	Q8NFN8	GP156_HUMAN		GBM - Glioblastoma multiforme(114;0.19)	10	2809_2810	-			789					B7ZL66|E9PFZ4|Q14CM1|Q86SN6	Frame_Shift_Ins	INS	ENST00000464295.1	37	c.2364_2365insG	CCDS2997.1																																																																																				0.550	GPR156-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355139.1	NM_153002		7	374						7	374	---	---	---	---
MUC13	56667	broad.mit.edu	37	3	124646628	124646629	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr3:124646628_124646629insG	ENST00000311075.3	-	2	299_300	c.261_262insC	c.(259-264)cccatafs	p.I88fs	MUC13_ENST00000497378.1_5'Flank	NM_033049.3	NP_149038	Q9H3R2	MUC13_HUMAN	mucin 13, cell surface associated	89	Thr-rich.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)|stomach(1)	18						GTACTAATTATGGGGGGAGCAG	0.441																																						ENST00000311075.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)|stomach(1)	18						c.(259-264)cctaatfs		mucin 13, cell surface associated																																				SO:0001589	frameshift_variant	56667					extracellular region|integral to membrane|plasma membrane		g.chr3:124646628_124646629insG	AF286113		3q21.2	2007-01-17	2006-03-14		ENSG00000173702	ENSG00000173702		"""Mucins"""	7511	protein-coding gene	gene with protein product		612181	"""down-regulated in colon cancer 1"", ""mucin 13, epithelial transmembrane"""	DRCC1		11278439	Standard	NM_033049		Approved		uc003ehq.2	Q9H3R2	OTTHUMG00000159484	ENST00000311075.3:c.262dupC	3.37:g.124646634_124646634dupG	ENSP00000312235:p.Ile88fs		Somatic					p.N88fs	NM_033049.3	NP_149038.3	WXS	Illumina GAIIx	Phase_I	Q9H3R2	MUC13_HUMAN			2	299_300	-			88			Thr-rich.		Q6UWD9|Q9NXT5	Frame_Shift_Ins	INS	ENST00000311075.3	37	c.261_262insC																																																																																					0.441	MUC13-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000355714.1	NM_033049		8	1117						8	1117	---	---	---	---
TRH	7200	broad.mit.edu	37	3	129695642	129695643	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr3:129695642_129695643insG	ENST00000302649.3	+	3	839_840	c.312_313insG	c.(313-315)gggfs	p.G105fs	TRH_ENST00000507066.1_Frame_Shift_Ins_p.G101fs	NM_007117.3	NP_009048.1	P20396	TRH_HUMAN	thyrotropin-releasing hormone	105					adult walking behavior (GO:0007628)|cell-cell signaling (GO:0007267)|eating behavior (GO:0042755)|histamine metabolic process (GO:0001692)|hormone-mediated signaling pathway (GO:0009755)|negative regulation of feeding behavior (GO:2000252)|negative regulation of glutamate secretion (GO:0014050)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|positive regulation of insulin secretion (GO:0032024)|response to cold (GO:0009409)|response to corticosterone (GO:0051412)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)	thyrotropin-releasing hormone activity (GO:0008437)			NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)	14						aagaggaagaagggggggCTGT	0.569																																					Esophageal Squamous(60;321 1330 17401 41911)	ENST00000302649.3																			0				NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)	14						c.(310-315)gaggggfs		thyrotropin-releasing hormone																																				SO:0001589	frameshift_variant	7200				cell-cell signaling|hormone-mediated signaling pathway	extracellular region|soluble fraction	neuropeptide hormone activity|thyrotropin-releasing hormone activity	g.chr3:129695642_129695643insG		CCDS3066.1	3q13.3-q21	2013-02-28				ENSG00000170893		"""Endogenous ligands"""	12298	protein-coding gene	gene with protein product	"""prothyroliberin"""	613879				2126343, 1900134	Standard	NM_007117		Approved		uc003enc.4	P20396		ENST00000302649.3:c.319dupG	3.37:g.129695649_129695649dupG	ENSP00000303452:p.Gly105fs		Somatic				TRH_ENST00000507066.1_Frame_Shift_Ins_p.EG100fs	p.EG104fs	NM_007117.3	NP_009048.1	WXS	Illumina GAIIx	Phase_I	P20396	TRH_HUMAN			3	839_840	+			104					B2R8R1|Q2TB83	Frame_Shift_Ins	INS	ENST00000302649.3	37	c.312_313insG	CCDS3066.1																																																																																				0.569	TRH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356592.1	NM_007117		11	147						11	147	---	---	---	---
TF	7018	broad.mit.edu	37	3	133476713	133476714	+	Frame_Shift_Ins	INS	-	-	C	rs148358704		TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr3:133476713_133476714insC	ENST00000402696.3	+	8	1456_1457	c.971_972insC	c.(970-975)gtccccfs	p.VP324fs	TF_ENST00000264998.3_Frame_Shift_Ins_p.VP197fs	NM_001063.3	NP_001054	P02787	TRFE_HUMAN	transferrin	324	Transferrin-like 1. {ECO:0000255|PROSITE- ProRule:PRU00741}.				blood coagulation (GO:0007596)|cellular iron ion homeostasis (GO:0006879)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|retina homeostasis (GO:0001895)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basal part of cell (GO:0045178)|basal plasma membrane (GO:0009925)|blood microparticle (GO:0072562)|cell surface (GO:0009986)|coated pit (GO:0005905)|cytoplasmic membrane-bounded vesicle (GO:0016023)|early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|secretory granule lumen (GO:0034774)|vesicle (GO:0031982)	ferric iron binding (GO:0008199)			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49					Aluminium(DB01370)|Bismuth Subsalicylate(DB01294)|Gallium nitrate(DB05260)|Iron Dextran(DB00893)	TTTTTAAAAGTCCCCCCCAGGA	0.485																																						ENST00000402696.3																			0				NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						c.(970-972)gccfs		transferrin	Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893)																																			SO:0001589	frameshift_variant	7018				cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport	apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule	ferric iron binding	g.chr3:133476713_133476714insC		CCDS3080.1	3q21	2012-10-02			ENSG00000091513	ENSG00000091513			11740	protein-coding gene	gene with protein product		190000				6585826	Standard	NM_001063		Approved	PRO1557, PRO2086	uc003epv.2	P02787	OTTHUMG00000150356	ENST00000402696.3:c.978dupC	3.37:g.133476720_133476720dupC	ENSP00000385834:p.Val324fs		Somatic				TF_ENST00000264998.3_Frame_Shift_Ins_p.A197fs	p.A324fs	NM_001063.3	NP_001054.1	WXS	Illumina GAIIx	Phase_I	P02787	TRFE_HUMAN			8	1456_1457	+			324			Transferrin-like 1.		O43890|Q1HBA5|Q9NQB8|Q9UHV0	Frame_Shift_Ins	INS	ENST00000402696.3	37	c.971_972insC	CCDS3080.1																																																																																				0.485	TF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317775.1	NM_001063		7	174						7	174	---	---	---	---
ABCC5	10057	broad.mit.edu	37	3	183700629	183700630	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr3:183700629_183700630insC	ENST00000334444.6	-	6	997_998	c.757_758insG	c.(757-759)gccfs	p.A253fs	ABCC5_ENST00000265586.6_Frame_Shift_Ins_p.A253fs|ABCC5_ENST00000492216.1_5'UTR	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	253	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cisplatin(DB00515)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Glutathione(DB00143)|Mercaptopurine(DB01033)|Probenecid(DB01032)|Rifampicin(DB01045)|Sildenafil(DB00203)|Sulfinpyrazone(DB01138)|Zidovudine(DB00495)	GGTTAGGATGGCCCCCCGCAAG	0.515																																						ENST00000334444.6																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						c.(757-759)catfs		ATP-binding cassette, sub-family C (CFTR/MRP), member 5																																				SO:0001589	frameshift_variant	10057					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity	g.chr3:183700629_183700630insC	AF104942	CCDS33898.1, CCDS43176.1	3q27	2012-03-14			ENSG00000114770	ENSG00000114770		"""ATP binding cassette transporters / subfamily C"""	56	protein-coding gene	gene with protein product		605251				8894702, 9827529	Standard	XM_005247058		Approved	MRP5, SMRP, EST277145, MOAT-C	uc003fmg.3	O15440	OTTHUMG00000156871	ENST00000334444.6:c.758dupG	3.37:g.183700635_183700635dupC	ENSP00000333926:p.Ala253fs		Somatic				ABCC5_ENST00000492216.1_5'UTR|ABCC5_ENST00000265586.6_Frame_Shift_Ins_p.H253fs	p.H253fs	NM_005688.2	NP_005679.2	WXS	Illumina GAIIx	Phase_I	O15440	MRP5_HUMAN	Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		6	997_998	-	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		253			ABC transmembrane type-1 1.		B9EIQ2|O14517|Q29ZA9|Q29ZB1|Q86UX3|Q86W30|Q9UN85|Q9UNP5|Q9UQC3	Frame_Shift_Ins	INS	ENST00000334444.6	37	c.757_758insG	CCDS43176.1																																																																																				0.515	ABCC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346350.1	NM_005688		11	555						11	555	---	---	---	---
HTR3C	170572	broad.mit.edu	37	3	183777416	183777417	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr3:183777416_183777417insC	ENST00000318351.1	+	7	947_948	c.913_914insC	c.(913-915)accfs	p.T305fs		NM_130770.2	NP_570126.2	Q8WXA8	5HT3C_HUMAN	5-hydroxytryptamine (serotonin) receptor 3C, ionotropic	305					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	extracellular ligand-gated ion channel activity (GO:0005230)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(2)	32	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)		Ergoloid mesylate(DB01049)	TGCCAGTGGCACCCCCCTCATC	0.584																																						ENST00000318351.1																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(2)	32						c.(913-915)cccfs		5-hydroxytryptamine (serotonin) receptor 3C, ionotropic																																				SO:0001589	frameshift_variant	170572					integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity	g.chr3:183777416_183777417insC	AF459285	CCDS3250.1	3q27	2012-05-22	2012-02-03		ENSG00000178084	ENSG00000178084		"""5-HT (serotonin) receptors"", ""Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"""	24003	protein-coding gene	gene with protein product		610121	"""5-hydroxytryptamine (serotonin) receptor 3, family member C"""			12801637, 15157181	Standard	NM_130770		Approved		uc003fmk.3	Q8WXA8	OTTHUMG00000156862	ENST00000318351.1:c.919dupC	3.37:g.183777422_183777422dupC	ENSP00000322617:p.Thr305fs		Somatic					p.P305fs	NM_130770.2	NP_570126.2	WXS	Illumina GAIIx	Phase_I	Q8WXA8	5HT3C_HUMAN	Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)		7	947_948	+	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		305					A2RRR5	Frame_Shift_Ins	INS	ENST00000318351.1	37	c.913_914insC	CCDS3250.1																																																																																				0.584	HTR3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346296.1	NM_130770		8	481						8	481	---	---	---	---
TMEM41A	90407	broad.mit.edu	37	3	185212517	185212518	+	Frame_Shift_Ins	INS	-	-	A			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr3:185212517_185212518insA	ENST00000421852.1	-	4	562_563	c.467_468insT	c.(466-468)ttcfs	p.F156fs	TMEM41A_ENST00000475480.1_5'UTR|TMEM41A_ENST00000296254.3_Intron	NM_080652.3	NP_542383.1	Q96HV5	TM41A_HUMAN	transmembrane protein 41A	156						integral component of membrane (GO:0016021)				large_intestine(1)|lung(2)|skin(1)	4	all_cancers(143;7.78e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			AAAACAATAAGAAAAAAAACAA	0.446																																						ENST00000421852.1																			0				large_intestine(1)|lung(2)|skin(1)	4						c.(466-468)tttfs		transmembrane protein 41A				0,4266		0,0,2133						1.0	0.8			116	1,8253		0,1,4126	no	frameshift	TMEM41A	NM_080652.3		0,1,6259	A1A1,A1R,RR		0.0121,0.0,0.0080				1,12519				SO:0001589	frameshift_variant	90407					integral to membrane		g.chr3:185212517_185212518insA	BC019884	CCDS3271.1	3q27.2	2006-04-12			ENSG00000163900	ENSG00000163900			30544	protein-coding gene	gene with protein product						12975309	Standard	NM_080652		Approved	MGC15397	uc003fpj.2	Q96HV5	OTTHUMG00000156660	ENST00000421852.1:c.468dupT	3.37:g.185212525_185212525dupA	ENSP00000406885:p.Phe156fs		Somatic				TMEM41A_ENST00000475480.1_5'UTR|TMEM41A_ENST00000296254.3_Intron	p.F156fs	NM_080652.3	NP_542383.1	WXS	Illumina GAIIx	Phase_I	Q96HV5	TM41A_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)		4	562_563	-	all_cancers(143;7.78e-11)|Ovarian(172;0.0339)		156					A8K4B3|D3DNU2|Q6ZMJ0	Frame_Shift_Ins	INS	ENST00000421852.1	37	c.467_468insT	CCDS3271.1																																																																																				0.446	TMEM41A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345174.1	NM_080652		7	236						7	236	---	---	---	---
UBXN7	26043	broad.mit.edu	37	3	196094916	196094917	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr3:196094916_196094917insG	ENST00000296328.4	-	8	890_891	c.816_817insC	c.(814-819)cccaaafs	p.K273fs	UBXN7_ENST00000535858.1_Frame_Shift_Ins_p.K125fs|UBXN7_ENST00000428095.1_Frame_Shift_Ins_p.K111fs	NM_015562.1	NP_056377.1	O94888	UBXN7_HUMAN	UBX domain protein 7	273						Cdc48p-Npl4p-Ufd1p AAA ATPase complex (GO:0034098)|nucleus (GO:0005634)	transcription factor binding (GO:0008134)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)			NS(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	18						GCACATTTTTTGGGGGGACTGC	0.396																																						ENST00000296328.4																			0				NS(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	18						c.(814-819)ccaaaafs		UBX domain protein 7																																				SO:0001589	frameshift_variant	26043						protein binding	g.chr3:196094916_196094917insG	AB018337	CCDS43191.1	3q29	2012-07-06	2008-07-25	2008-07-25	ENSG00000163960	ENSG00000163960		"""UBX domain containing"""	29119	protein-coding gene	gene with protein product			"""UBX domain containing 7"""	UBXD7		9872452, 22537386	Standard	NM_015562		Approved	KIAA0794	uc003fwm.4	O94888	OTTHUMG00000155639	ENST00000296328.4:c.817dupC	3.37:g.196094922_196094922dupG	ENSP00000296328:p.Lys273fs		Somatic				UBXN7_ENST00000535858.1_Frame_Shift_Ins_p.PK124fs|UBXN7_ENST00000428095.1_Frame_Shift_Ins_p.PK110fs	p.PK272fs	NM_015562.1	NP_056377.1	WXS	Illumina GAIIx	Phase_I	O94888	UBXN7_HUMAN			8	890_891	-			272					D3DXB3|Q6ZP77|Q86X20|Q8N327	Frame_Shift_Ins	INS	ENST00000296328.4	37	c.816_817insC	CCDS43191.1																																																																																				0.396	UBXN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340938.2	XM_087353		8	412						8	412	---	---	---	---
LETM1	3954	broad.mit.edu	37	4	1843235	1843236	+	Frame_Shift_Ins	INS	-	-	G	rs559993367		TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr4:1843235_1843236insG	ENST00000302787.2	-	3	728_729	c.432_433insC	c.(430-435)cccgcafs	p.A145fs		NM_012318.2	NP_036450.1	O95202	LETM1_HUMAN	leucine zipper-EF-hand containing transmembrane protein 1	145					cristae formation (GO:0042407)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(2)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	13			all cancers(2;0.00756)|OV - Ovarian serous cystadenocarcinoma(23;0.00989)|Epithelial(3;0.0141)			ACCACCTCTGCGGGGGGGCTGT	0.604																																						ENST00000302787.2																			0				breast(3)|central_nervous_system(2)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	13						c.(430-435)cccagafs		leucine zipper-EF-hand containing transmembrane protein 1																																				SO:0001589	frameshift_variant	3954				cristae formation	integral to membrane|mitochondrial inner membrane	calcium ion binding|protein binding	g.chr4:1843235_1843236insG	AF061025	CCDS3355.1	4p16.3	2013-01-10			ENSG00000168924	ENSG00000168924		"""EF-hand domain containing"""	6556	protein-coding gene	gene with protein product	"""Mdm38 homolog (yeast)"""	604407				10486213	Standard	NM_012318		Approved		uc003gdv.3	O95202	OTTHUMG00000121149	ENST00000302787.2:c.433dupC	4.37:g.1843242_1843242dupG	ENSP00000305653:p.Ala145fs		Somatic					p.R145fs	NM_012318.2	NP_036450.1	WXS	Illumina GAIIx	Phase_I	O95202	LETM1_HUMAN	all cancers(2;0.00756)|OV - Ovarian serous cystadenocarcinoma(23;0.00989)|Epithelial(3;0.0141)		3	728_729	-			145					B4DED2|Q9UF65	Frame_Shift_Ins	INS	ENST00000302787.2	37	c.432_433insC	CCDS3355.1																																																																																				0.604	LETM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241634.1			22	278						22	278	---	---	---	---
FAM193A	8603	broad.mit.edu	37	4	2661592	2661593	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr4:2661592_2661593insC	ENST00000324666.5	+	8	1034_1035	c.683_684insC	c.(682-687)gaccccfs	p.DP228fs	FAM193A_ENST00000505311.1_Frame_Shift_Ins_p.DP228fs|FAM193A_ENST00000382839.3_Frame_Shift_Ins_p.DP228fs|FAM193A_ENST00000545951.1_Frame_Shift_Ins_p.DP228fs|FAM193A_ENST00000502458.1_Frame_Shift_Ins_p.DP252fs	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN	family with sequence similarity 193, member A	228										NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						GGTATCATGGACCCCCCCGTCA	0.525																																						ENST00000324666.5																			0				NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						c.(682-684)gccfs		family with sequence similarity 193, member A																																				SO:0001589	frameshift_variant	8603							g.chr4:2661592_2661593insC	AB000459	CCDS33943.1, CCDS58874.1, CCDS58875.1, CCDS58876.1	4p16.3	2009-09-04	2009-09-04	2009-09-04					16822	protein-coding gene	gene with protein product			"""chromosome 4 open reading frame 8"""	C4orf8		9734812	Standard	NR_046335		Approved	RES4-22	uc010ick.3	P78312		ENST00000324666.5:c.690dupC	4.37:g.2661599_2661599dupC	ENSP00000324587:p.Asp228fs		Somatic				FAM193A_ENST00000382839.3_Frame_Shift_Ins_p.A228fs|FAM193A_ENST00000502458.1_Frame_Shift_Ins_p.A252fs|FAM193A_ENST00000505311.1_Frame_Shift_Ins_p.A228fs|FAM193A_ENST00000545951.1_Frame_Shift_Ins_p.A228fs	p.A228fs	NM_001256666.1	NP_001243595.1	WXS	Illumina GAIIx	Phase_I	P78312	F193A_HUMAN			8	1034_1035	+			228					B7ZM85|B9EGR0|E9PFA1|O43607|P78311|P78313|Q9UEG8	Frame_Shift_Ins	INS	ENST00000324666.5	37	c.683_684insC	CCDS58875.1																																																																																				0.525	FAM193A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000360903.1	NM_003704		14	285						14	285	---	---	---	---
LGI2	55203	broad.mit.edu	37	4	25005320	25005321	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr4:25005320_25005321insC	ENST00000382114.4	-	8	1575_1576	c.1390_1391insG	c.(1390-1392)gccfs	p.A464fs		NM_018176.3	NP_060646.2	Q8N0V4	LGI2_HUMAN	leucine-rich repeat LGI family, member 2	464						extracellular region (GO:0005576)				breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2)	33		Breast(46;0.173)				CAGGGTCATGGCCCCCCGGGAT	0.515																																						ENST00000382114.4																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2)	33						c.(1390-1392)catfs		leucine-rich repeat LGI family, member 2																																				SO:0001589	frameshift_variant	55203					extracellular region		g.chr4:25005320_25005321insC	AJ487516	CCDS3431.1	4p15.31	2008-07-28			ENSG00000153012	ENSG00000153012			18710	protein-coding gene	gene with protein product		608301				12023020, 16014869	Standard	NM_018176		Approved	KIAA1916, FLJ10675	uc003grf.2	Q8N0V4	OTTHUMG00000097749	ENST00000382114.4:c.1391dupG	4.37:g.25005326_25005326dupC	ENSP00000371548:p.Ala464fs		Somatic					p.H464fs	NM_018176.3	NP_060646.2	WXS	Illumina GAIIx	Phase_I	Q8N0V4	LGI2_HUMAN			8	1575_1576	-		Breast(46;0.173)	464					Q3MIN2|Q8NDW6|Q96PX2|Q9NVK4	Frame_Shift_Ins	INS	ENST00000382114.4	37	c.1390_1391insG	CCDS3431.1																																																																																				0.515	LGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214978.1			12	421						12	421	---	---	---	---
UNC5C	8633	broad.mit.edu	37	4	96140293	96140294	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr4:96140293_96140294insG	ENST00000453304.1	-	9	1819_1820	c.1471_1472insC	c.(1471-1473)caafs	p.Q491fs	UNC5C_ENST00000506749.1_Frame_Shift_Ins_p.Q510fs	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	491					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)			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)		GAGGTCATCTTGGGGGGTGACA	0.505																																						ENST00000453304.1																			0				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						c.(1471-1473)agafs		unc-5 homolog C (C. elegans)																																				SO:0001589	frameshift_variant	8633				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity	g.chr4:96140293_96140294insG	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.1472dupC	4.37:g.96140299_96140299dupG	ENSP00000406022:p.Gln491fs		Somatic				UNC5C_ENST00000506749.1_Frame_Shift_Ins_p.R510fs	p.R491fs	NM_003728.3	NP_003719.3	WXS	Illumina GAIIx	Phase_I	O95185	UNC5C_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)	9	1819_1820	-		Hepatocellular(203;0.114)	491					Q8IUT0	Frame_Shift_Ins	INS	ENST00000453304.1	37	c.1471_1472insC	CCDS3643.1																																																																																				0.505	UNC5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253607.1	NM_003728		8	426						8	426	---	---	---	---
FBXW7	55294	broad.mit.edu	37	4	153244155	153244156	+	Frame_Shift_Ins	INS	-	-	C	rs7679116		TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr4:153244155_153244156insC	ENST00000281708.4	-	12	3230_3231	c.2001_2002insG	c.(1999-2004)gggagtfs	p.S668fs	FBXW7_ENST00000393956.3_Frame_Shift_Ins_p.S492fs|RP11-461L13.3_ENST00000603766.1_lincRNA|FBXW7_ENST00000603841.1_Frame_Shift_Ins_p.S668fs|FBXW7_ENST00000296555.5_Frame_Shift_Ins_p.S550fs|FBXW7_ENST00000263981.5_Frame_Shift_Ins_p.S588fs|FBXW7_ENST00000603548.1_Frame_Shift_Ins_p.S668fs	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	668			S -> G (in dbSNP:rs7679116).		cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)	p.S668fs*39(1)|p.S668fs*26(1)|p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				ACTCCCCCACTCCCCCCACTCT	0.485			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""																																	ENST00000281708.4				Rec	yes		4	4q31.3	55294	"""Mis, N, D, F"""	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"""			"""E, L"""			"""colorectal, endometrial, T-ALL"""		3	Unknown(1)|Insertion - Frameshift(1)|Deletion - Frameshift(1)	p.S668fs*39(1)|p.S668fs*26(1)|p.?(1)	haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)	NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462						c.(1999-2004)gggtggfs		F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase																																				SO:0001589	frameshift_variant	55294				interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	g.chr4:153244155_153244156insC	AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	16712	protein-coding gene	gene with protein product	"""archipelago homolog (Drosophila)"""	606278	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"", ""F-box and WD repeat domain containing 7"""			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.2002dupG	4.37:g.153244161_153244161dupC	ENSP00000281708:p.Ser668fs		Somatic				FBXW7_ENST00000393956.3_Frame_Shift_Ins_p.W492fs|FBXW7_ENST00000296555.5_Frame_Shift_Ins_p.W550fs|FBXW7_ENST00000603841.1_Frame_Shift_Ins_p.W668fs|FBXW7_ENST00000603548.1_Frame_Shift_Ins_p.W668fs|FBXW7_ENST00000263981.5_Frame_Shift_Ins_p.W588fs	p.W668fs	NM_033632.3	NP_361014.1	WXS	Illumina GAIIx	Phase_I	Q969H0	FBXW7_HUMAN			12	3230_3231	-	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)	668		S -> G (in dbSNP:rs7679116).			B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Frame_Shift_Ins	INS	ENST00000281708.4	37	c.2001_2002insG	CCDS3777.1																																																																																				0.485	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469956.1			8	442						8	442	---	---	---	---
SORBS2	8470	broad.mit.edu	37	4	186515043	186515044	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr4:186515043_186515044insC	ENST00000284776.7	-	19	3639_3640	c.3130_3131insG	c.(3130-3132)gaafs	p.E1044fs	SORBS2_ENST00000431808.1_Frame_Shift_Ins_p.E1044fs|SORBS2_ENST00000319471.9_Frame_Shift_Ins_p.E675fs|SORBS2_ENST00000437304.2_Frame_Shift_Ins_p.E768fs|SORBS2_ENST00000448662.2_Frame_Shift_Ins_p.E605fs|SORBS2_ENST00000393528.3_Frame_Shift_Ins_p.E610fs|SORBS2_ENST00000355634.5_Frame_Shift_Ins_p.E1144fs|SORBS2_ENST00000418609.1_Frame_Shift_Ins_p.E948fs|RP11-301L8.2_ENST00000411847.1_RNA|SORBS2_ENST00000449407.2_Frame_Shift_Ins_p.E588fs	NM_021069.4	NP_066547.1	O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	1044	SH3 3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|cell migration (GO:0016477)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)	p.E1044fs*8(2)|p.E605fs*8(2)		endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		TACTTACGGTTCCCCCCCACCT	0.356																																					Esophageal Squamous(153;41 2433 9491 36028)	ENST00000431808.1																			4	Insertion - Frameshift(4)	p.E1044fs*8(2)|p.E605fs*8(2)	haematopoietic_and_lymphoid_tissue(4)	endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53						c.(3130-3132)accfs		sorbin and SH3 domain containing 2																																				SO:0001589	frameshift_variant	8470					actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chr4:186515043_186515044insC		CCDS3845.1, CCDS43289.2, CCDS47173.1, CCDS47174.1, CCDS47175.1, CCDS47176.1, CCDS54825.1, CCDS59482.1	4q35.1	2008-02-05			ENSG00000154556	ENSG00000154556			24098	protein-coding gene	gene with protein product	"""Arg/Abl interacting protein"""					9211900, 9872452	Standard	NM_021069		Approved	ARGBP2, KIAA0777	uc003iym.3	O94875	OTTHUMG00000157215	ENST00000284776.7:c.3131dupG	4.37:g.186515050_186515050dupC	ENSP00000284776:p.Glu1044fs		Somatic				RP11-301L8.2_ENST00000411847.1_RNA|SORBS2_ENST00000449407.2_Frame_Shift_Ins_p.T588fs|SORBS2_ENST00000448662.2_Frame_Shift_Ins_p.T605fs|SORBS2_ENST00000284776.7_Frame_Shift_Ins_p.T1044fs|SORBS2_ENST00000437304.2_Frame_Shift_Ins_p.T768fs|SORBS2_ENST00000319471.9_Frame_Shift_Ins_p.T675fs|SORBS2_ENST00000418609.1_Frame_Shift_Ins_p.T948fs|SORBS2_ENST00000393528.3_Frame_Shift_Ins_p.T610fs|SORBS2_ENST00000355634.5_Frame_Shift_Ins_p.T1144fs	p.T1044fs			WXS	Illumina GAIIx	Phase_I	O94875	SRBS2_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)	20	3693_3694	-		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)	1044			SH3 3.		A6NEK9|B3KPQ7|B7Z1G5|B7Z3X6|C9JKV9|D3DP62|D3DP63|E9PAS5|E9PAW4|G3XAI0|H7BXR4|J3KNZ5|O60592|O60593|Q96EX0	Frame_Shift_Ins	INS	ENST00000284776.7	37	c.3130_3131insG	CCDS3845.1																																																																																				0.356	SORBS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347944.3	NM_003603		15	260						15	260	---	---	---	---
TLR3	7098	broad.mit.edu	37	4	186997804	186997805	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr4:186997804_186997805insG	ENST00000296795.3	+	2	135_136	c.31_32insG	c.(31-33)tggfs	p.W11fs		NM_003265.2	NP_003256.1	O15455	TLR3_HUMAN	toll-like receptor 3	11					activation of NF-kappaB-inducing kinase activity (GO:0007250)|cellular response to drug (GO:0035690)|cellular response to exogenous dsRNA (GO:0071360)|cellular response to interferon-beta (GO:0035458)|cellular response to interferon-gamma (GO:0071346)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|defense response to virus (GO:0051607)|detection of virus (GO:0009597)|extrinsic apoptotic signaling pathway (GO:0097191)|hyperosmotic response (GO:0006972)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|male gonad development (GO:0008584)|microglial cell activation involved in immune response (GO:0002282)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic signaling pathway (GO:0097527)|negative regulation of osteoclast differentiation (GO:0045671)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of apoptotic process (GO:0043065)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of chemokine production (GO:0032722)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type III interferon production (GO:0034346)|response to exogenous dsRNA (GO:0043330)|signal transduction (GO:0007165)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|endolysosome membrane (GO:0036020)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	double-stranded RNA binding (GO:0003725)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)		TATCTACTTTTGGGGGGGCCTT	0.446																																						ENST00000296795.2																			0				breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29						c.(31-33)gggfs		toll-like receptor 3																																				SO:0001589	frameshift_variant	7098				activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|I-kappaB phosphorylation|inflammatory response|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of osteoclast differentiation|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway	endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane	double-stranded RNA binding|transmembrane receptor activity	g.chr4:186997804_186997805insG	U88879	CCDS3846.1	4q35	2014-09-17				ENSG00000164342		"""CD molecules"""	11849	protein-coding gene	gene with protein product		603029				9435236	Standard	NM_003265		Approved	CD283	uc003iyq.3	O15455		ENST00000296795.3:c.38dupG	4.37:g.186997811_186997811dupG	ENSP00000296795:p.Trp11fs		Somatic					p.G11fs	NM_003265.2	NP_003256.1	WXS	Illumina GAIIx	Phase_I	O15455	TLR3_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)	2	135_136	+		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)	11					B2RAI7|B7Z7K0|E6Y0F0|E6Y0F1|E9PGH4|Q4VAL2|Q504W0	Frame_Shift_Ins	INS	ENST00000296795.3	37	c.31_32insG	CCDS3846.1																																																																																				0.446	TLR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360313.4			15	338						15	338	---	---	---	---
FAT1	2195	broad.mit.edu	37	4	187558038	187558039	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr4:187558038_187558039insG	ENST00000441802.2	-	5	3881_3882	c.3672_3673insC	c.(3670-3675)cccaaafs	p.K1225fs		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1225	Cadherin 10. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						ATGGTTGATTTGGGGGGACTAC	0.361										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	ENST00000441802.2																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						c.(3670-3675)ccaatcfs		FAT atypical cadherin 1																																				SO:0001589	frameshift_variant	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187558038_187558039insG	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.3673dupC	4.37:g.187558044_187558044dupG	ENSP00000406229:p.Lys1225fs	HNSCC(5;0.00058)	Somatic					p.I1225fs	NM_005245.3	NP_005236.2	WXS	Illumina GAIIx	Phase_I	Q14517	FAT1_HUMAN			5	3881_3882	-			1225			Cadherin 10.			Frame_Shift_Ins	INS	ENST00000441802.2	37	c.3672_3673insC	CCDS47177.1																																																																																				0.361	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		13	693						13	693	---	---	---	---
PDZD2	23037	broad.mit.edu	37	5	31799540	31799541	+	Frame_Shift_Ins	INS	-	-	C	rs371280714		TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr5:31799540_31799541insC	ENST00000438447.1	+	2	573_574	c.185_186insC	c.(184-189)agccccfs	p.SP62fs	PDZD2_ENST00000282493.3_Frame_Shift_Ins_p.SP62fs			O15018	PDZD2_HUMAN	PDZ domain containing 2	62					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)		p.E65fs*34(1)|p.E65fs*21(1)		NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						CCTGATCACAGCCCCCCCGAAA	0.589																																						ENST00000438447.1																			2	Deletion - Frameshift(1)|Insertion - Frameshift(1)	p.E65fs*34(1)|p.E65fs*21(1)	large_intestine(1)|ovary(1)	NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						c.(184-186)accfs		PDZ domain containing 2																																				SO:0001589	frameshift_variant	23037				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		g.chr5:31799540_31799541insC	AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"""PDZ domain containing 3"""	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.192dupC	5.37:g.31799547_31799547dupC	ENSP00000402033:p.Ser62fs		Somatic				PDZD2_ENST00000282493.3_Frame_Shift_Ins_p.T62fs	p.T62fs			WXS	Illumina GAIIx	Phase_I	O15018	PDZD2_HUMAN			2	573_574	+			62					Q9BXD4	Frame_Shift_Ins	INS	ENST00000438447.1	37	c.185_186insC	CCDS34137.1																																																																																				0.589	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1			13	318						13	318	---	---	---	---
PDZD2	23037	broad.mit.edu	37	5	31995791	31995797	+	Frame_Shift_Del	DEL	TCACTCA	TCACTCA	-			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr5:31995791_31995797delTCACTCA	ENST00000438447.1	+	4	1476_1482	c.1088_1094delTCACTCA	c.(1087-1095)gtcactcaafs	p.VTQ363fs	PDZD2_ENST00000282493.3_Frame_Shift_Del_p.VTQ363fs			O15018	PDZD2_HUMAN	PDZ domain containing 2	363	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						GCTATCGTTGTCACTCAAGTGAAGGAA	0.57																																						ENST00000438447.1																			0				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						c.(1087-1095)gafs		PDZ domain containing 2																																				SO:0001589	frameshift_variant	23037				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		g.chr5:31995791_31995797delTCACTCA	AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"""PDZ domain containing 3"""	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.1088_1094delTCACTCA	5.37:g.31995791_31995797delTCACTCA	ENSP00000402033:p.Val363fs		Somatic				PDZD2_ENST00000282493.3_Frame_Shift_Del_p.VTQ363fs	p.VTQ363fs			WXS	Illumina GAIIx	Phase_I	O15018	PDZD2_HUMAN			4	1476_1482	+			363			PDZ 2.		Q9BXD4	Frame_Shift_Del	DEL	ENST00000438447.1	37	c.1088_1094delTCACTCA	CCDS34137.1																																																																																				0.570	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1			134	187						134	187	---	---	---	---
FYB	2533	broad.mit.edu	37	5	39202090	39202091	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr5:39202090_39202091insC	ENST00000351578.6	-	2	1162_1163	c.972_973insG	c.(970-975)gggccafs	p.P325fs	FYB_ENST00000512982.1_Frame_Shift_Ins_p.P325fs|FYB_ENST00000515010.1_Frame_Shift_Ins_p.P325fs|FYB_ENST00000540520.1_Frame_Shift_Ins_p.P335fs|FYB_ENST00000505428.1_Frame_Shift_Ins_p.P325fs	NM_199335.3	NP_955367.1	O15117	FYB_HUMAN	FYN binding protein	325					immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|NLS-bearing protein import into nucleus (GO:0006607)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|T cell receptor signaling pathway (GO:0050852)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|nucleus (GO:0005634)	receptor binding (GO:0005102)	p.P325A(3)|p.P335A(1)		endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			TGGCCCCATGGCCCCCCCACTG	0.54																																						ENST00000351578.6																			4	Substitution - Missense(4)	p.P325A(3)|p.P335A(1)	kidney(4)	endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45						c.(970-975)ggcatgfs		FYN binding protein																																				SO:0001589	frameshift_variant	2533				cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway	cytosol|nucleus	protein binding	g.chr5:39202090_39202091insC	U93049	CCDS47200.1, CCDS54848.1	5p13.1	2012-05-04	2010-05-04		ENSG00000082074	ENSG00000082074			4036	protein-coding gene	gene with protein product		602731	"""FYN-binding protein (FYB-120/130)"""			9115214, 9207119	Standard	NM_001465		Approved	SLAP-130, FYB-120/130	uc011cpl.2	O15117	OTTHUMG00000162071	ENST00000351578.6:c.973dupG	5.37:g.39202097_39202097dupC	ENSP00000316460:p.Pro325fs		Somatic				FYB_ENST00000515010.1_Frame_Shift_Ins_p.M325fs|FYB_ENST00000512982.1_Frame_Shift_Ins_p.M325fs|FYB_ENST00000540520.1_Frame_Shift_Ins_p.M335fs|FYB_ENST00000505428.1_Frame_Shift_Ins_p.M325fs	p.M325fs	NM_199335.3	NP_955367.1	WXS	Illumina GAIIx	Phase_I	O15117	FYB_HUMAN	Epithelial(62;0.235)		2	1162_1163	-	all_lung(31;0.000343)		325					A8K2Y8|B4DLN2|E9PBV9|O00359|Q9NZI9	Frame_Shift_Ins	INS	ENST00000351578.6	37	c.972_973insG	CCDS47200.1																																																																																				0.540	FYB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000367098.1	NM_001465		7	118						7	118	---	---	---	---
MOCS2	4338	broad.mit.edu	37	5	52402939	52402940	+	Frame_Shift_Ins	INS	-	-	G	rs375101987|rs398122799		TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr5:52402939_52402940insG	ENST00000396954.3	-	3	742_743	c.65_66insC	c.(64-66)ccafs	p.P22fs	CTD-2366F13.1_ENST00000499459.2_RNA|MOCS2_ENST00000450852.3_Frame_Shift_Ins_p.I85fs|MOCS2_ENST00000527216.1_Frame_Shift_Ins_p.I80fs|CTD-2366F13.1_ENST00000502171.2_RNA|MOCS2_ENST00000584946.1_Frame_Shift_Ins_p.I85fs|MOCS2_ENST00000508922.1_Frame_Shift_Ins_p.I85fs|CTD-2366F13.1_ENST00000512301.1_RNA|MOCS2_ENST00000582677.1_Frame_Shift_Ins_p.I85fs|MOCS2_ENST00000510818.2_Frame_Shift_Ins_p.I85fs|MOCS2_ENST00000361377.4_Frame_Shift_Ins_p.I85fs	NM_004531.3	NP_004522.1			molybdenum cofactor synthesis 2											endometrium(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	5		Lung NSC(810;3.08e-05)|Breast(144;0.0848)				CCTCCACTAATGGGGGGGATAA	0.426																																						ENST00000361377.4																			0				endometrium(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	5	GRCh37	CI992095	MOCS2	I		c.(250-255)ccttagfs		molybdenum cofactor synthesis 2																																				SO:0001589	frameshift_variant	4338				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol|molybdopterin synthase complex	nucleotide binding	g.chr5:52402939_52402940insG	AF117815	CCDS3958.1, CCDS47205.1	5q11	2008-02-05			ENSG00000164172	ENSG00000164172			7193	protein-coding gene	gene with protein product		603708				10053004, 9889283	Standard	NM_004531		Approved	MOCO1	uc003joz.3	O96007	OTTHUMG00000096981	ENST00000396954.3:c.66dupC	5.37:g.52402946_52402946dupG	ENSP00000380157:p.Pro22fs		Somatic				MOCS2_ENST00000510818.2_Frame_Shift_Ins_p.*85fs|MOCS2_ENST00000584946.1_Frame_Shift_Ins_p.*85fs|MOCS2_ENST00000396954.3_Frame_Shift_Ins_p.L22fs|MOCS2_ENST00000450852.3_Frame_Shift_Ins_p.*85fs|MOCS2_ENST00000582677.1_Frame_Shift_Ins_p.*85fs|MOCS2_ENST00000508922.1_Frame_Shift_Ins_p.*85fs	p.*85fs			WXS	Illumina GAIIx	Phase_I	O96033	MOC2A_HUMAN			3	293_294	-		Lung NSC(810;3.08e-05)|Breast(144;0.0848)	85						Frame_Shift_Ins	INS	ENST00000396954.3	37	c.252_253insC	CCDS3958.1																																																																																				0.426	MOCS2-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000214053.3	NM_183418		11	235						11	235	---	---	---	---
MAP1B	4131	broad.mit.edu	37	5	71495076	71495077	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr5:71495076_71495077insC	ENST00000296755.7	+	5	6192_6193	c.5894_5895insC	c.(5893-5898)agccccfs	p.SP1965fs		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1965					axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		AAGACCACCAGCCCCCCCGAAG	0.485																																					Melanoma(17;367 822 11631 31730 47712)	ENST00000296755.7																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104						c.(5893-5895)accfs		microtubule-associated protein 1B																																				SO:0001589	frameshift_variant	4131					microtubule|microtubule associated complex	structural molecule activity	g.chr5:71495076_71495077insC	L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 102"""	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.5901dupC	5.37:g.71495083_71495083dupC	ENSP00000296755:p.Ser1965fs		Somatic					p.T1965fs	NM_005909.3	NP_005900.2	WXS	Illumina GAIIx	Phase_I	P46821	MAP1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)	5	6192_6193	+		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)	1965					A2BDK5	Frame_Shift_Ins	INS	ENST00000296755.7	37	c.5894_5895insC	CCDS4012.1																																																																																				0.485	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218561.6	NM_005909		20	500						20	500	---	---	---	---
GCNT4	51301	broad.mit.edu	37	5	74324982	74324983	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr5:74324982_74324983insG	ENST00000322348.4	-	1	1741_1742	c.880_881insC	c.(880-882)catfs	p.H294fs		NM_016591.2	NP_057675.1	Q9P109	GCNT4_HUMAN	glucosaminyl (N-acetyl) transferase 4, core 2	294					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|homeostasis of number of cells (GO:0048872)|inter-male aggressive behavior (GO:0002121)|kidney morphogenesis (GO:0060993)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)|thyroid hormone metabolic process (GO:0042403)|tissue morphogenesis (GO:0048729)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity (GO:0003829)|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity (GO:0008109)	p.H294fs*2(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|skin(1)|stomach(2)	19		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;8.44e-57)		CTGAATGTTATGGGGGGGTGCT	0.366																																						ENST00000322348.4																			1	Insertion - Frameshift(1)	p.H294fs*2(1)	large_intestine(1)	NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|skin(1)|stomach(2)	19						c.(880-882)taafs		glucosaminyl (N-acetyl) transferase 4, core 2																																				SO:0001589	frameshift_variant	51301				protein O-linked glycosylation	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity	g.chr5:74324982_74324983insG	AF132035	CCDS4026.1	5q12	2013-02-25	2010-03-16		ENSG00000176928	ENSG00000176928	2.4.1.102	"""Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"""	17973	protein-coding gene	gene with protein product	"""core 2 beta-1,6-N-acetylglucosaminyltransferase 3"", ""beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase 4"""		"""glucosaminyl (N-acetyl) transferase 4, core 2 (beta-1,6-N-acetylglucosaminyltransferase)"""			10753916	Standard	NM_016591		Approved	C2GNT3	uc003kdn.3	Q9P109	OTTHUMG00000131272	ENST00000322348.4:c.881dupC	5.37:g.74324989_74324989dupG	ENSP00000317027:p.His294fs		Somatic					p.*294fs	NM_016591.2	NP_057675.1	WXS	Illumina GAIIx	Phase_I	Q9P109	GCNT4_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;8.44e-57)	1	1741_1742	-		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)	294						Frame_Shift_Ins	INS	ENST00000322348.4	37	c.880_881insC	CCDS4026.1																																																																																				0.366	GCNT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254040.1	NM_016591		8	138						8	138	---	---	---	---
POLK	51426	broad.mit.edu	37	5	74869655	74869656	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr5:74869655_74869656insC	ENST00000241436.4	+	5	673_674	c.501_502insC	c.(502-504)cccfs	p.P168fs	POLK_ENST00000352007.5_Frame_Shift_Ins_p.P168fs|POLK_ENST00000506928.1_3'UTR|POLK_ENST00000504026.1_Frame_Shift_Ins_p.P168fs|POLK_ENST00000515295.1_Frame_Shift_Ins_p.P168fs|POLK_ENST00000380481.3_Frame_Shift_Ins_p.P78fs|POLK_ENST00000508526.1_Frame_Shift_Ins_p.P168fs	NM_016218.2	NP_057302.1	Q9UBT6	POLK_HUMAN	polymerase (DNA directed) kappa	168	UmuC.				DNA repair (GO:0006281)|nucleotide-excision repair, DNA gap filling (GO:0006297)	nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)			endometrium(1)|kidney(4)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	27		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;2.9e-54)|all cancers(79;1.27e-42)		TTATAATAGTGCCCCCCAACTT	0.441								DNA polymerases (catalytic subunits)																														ENST00000241436.4																			0				endometrium(1)|kidney(4)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	27						c.(499-504)gtccccfs	DNA polymerases (catalytic subunits)	polymerase (DNA directed) kappa																																				SO:0001589	frameshift_variant	51426				DNA replication|nucleotide-excision repair, DNA gap filling	nucleus	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding	g.chr5:74869655_74869656insC	AB027564	CCDS4030.1	5q13	2012-05-18			ENSG00000122008	ENSG00000122008		"""DNA polymerases"""	9183	protein-coding gene	gene with protein product	"""polymerase (DNA-directed) kappa"", ""DINB protein"", ""DNA polymerase kappa"""	605650		DINB1		10887153, 10518552	Standard	NM_016218		Approved	POLQ, DINP	uc003kdw.3	Q9UBT6	OTTHUMG00000102107	ENST00000241436.4:c.507dupC	5.37:g.74869661_74869661dupC	ENSP00000241436:p.Pro168fs		Somatic				POLK_ENST00000504026.1_Frame_Shift_Ins_p.VP167fs|POLK_ENST00000380481.3_Frame_Shift_Ins_p.VP77fs|POLK_ENST00000508526.1_Frame_Shift_Ins_p.VP167fs|POLK_ENST00000352007.5_Frame_Shift_Ins_p.VP167fs|POLK_ENST00000506928.1_3'UTR|POLK_ENST00000515295.1_Frame_Shift_Ins_p.VP167fs	p.VP167fs	NM_016218.2	NP_057302.1	WXS	Illumina GAIIx	Phase_I	Q9UBT6	POLK_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;2.9e-54)|all cancers(79;1.27e-42)	5	673_674	+		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)|Prostate(461;0.184)	167			UmuC.		B2RBD2|Q5Q9G5|Q5Q9G6|Q5Q9G7|Q5Q9G8|Q86VJ8|Q8IZY0|Q8IZY1|Q8NB30|Q96L01|Q96Q86|Q96Q87|Q9UHC5	Frame_Shift_Ins	INS	ENST00000241436.4	37	c.501_502insC	CCDS4030.1																																																																																				0.441	POLK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219945.3	NM_016218		7	219						7	219	---	---	---	---
FBN2	2201	broad.mit.edu	37	5	127648336	127648337	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr5:127648336_127648337insG	ENST00000508053.1	-	43	5842_5843	c.4868_4869insC	c.(4867-4869)cctfs	p.P1623fs	FBN2_ENST00000262464.4_Frame_Shift_Ins_p.P1623fs			P35556	FBN2_HUMAN	fibrillin 2	1623	TB 6.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.P1623P(2)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TGCTATTGACAGGGGGGCATGT	0.505																																						ENST00000508053.1																			2	Substitution - coding silent(2)	p.P1623P(2)	lung(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197						c.(4867-4869)cgtfs		fibrillin 2																																				SO:0001589	frameshift_variant	2201				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	g.chr5:127648336_127648337insG	U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"""fibrillin 5"""	612570	"""congenital contractural arachnodactyly"""	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.4869dupC	5.37:g.127648342_127648342dupG	ENSP00000424571:p.Pro1623fs		Somatic				FBN2_ENST00000262464.4_Frame_Shift_Ins_p.R1623fs	p.R1623fs			WXS	Illumina GAIIx	Phase_I	P35556	FBN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)	43	5842_5843	-		all_cancers(142;0.0216)|Prostate(80;0.0551)	1623			TB 6.		B4DU01|Q59ES6	Frame_Shift_Ins	INS	ENST00000508053.1	37	c.4868_4869insC	CCDS34222.1																																																																																				0.505	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999		8	665						8	665	---	---	---	---
SLC22A5	6584	broad.mit.edu	37	5	131722730	131722731	+	Frame_Shift_Ins	INS	-	-	C	rs386134209|rs386134208		TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr5:131722730_131722731insC	ENST00000245407.3	+	5	1059_1060	c.838_839insC	c.(838-840)tccfs	p.S280fs	SLC22A5_ENST00000435065.2_Frame_Shift_Ins_p.S304fs	NM_003060.3	NP_003051.1	O76082	S22A5_HUMAN	solute carrier family 22 (organic cation/carnitine transporter), member 5	280			S -> F (in CDSP; reduces carnitine transport). {ECO:0000269|PubMed:21922592}.		carnitine transmembrane transport (GO:1902603)|carnitine transport (GO:0015879)|drug transmembrane transport (GO:0006855)|drug transport (GO:0015893)|positive regulation of intestinal epithelial structure maintenance (GO:0060731)|quaternary ammonium group transport (GO:0015697)|quorum sensing involved in interaction with host (GO:0052106)|sodium ion transport (GO:0006814)|sodium-dependent organic cation transport (GO:0070715)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antibiotic transporter activity (GO:0042895)|ATP binding (GO:0005524)|carnitine transmembrane transporter activity (GO:0015226)|drug transmembrane transporter activity (GO:0015238)|PDZ domain binding (GO:0030165)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|symporter activity (GO:0015293)			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|stomach(1)	8		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Acetylcarnitine(DB08842)|Aminohippurate(DB00345)|Amphetamine(DB00182)|Ampicillin(DB00415)|Azidocillin(DB08795)|Benzylpenicillin(DB01053)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefdinir(DB00535)|Cefepime(DB01413)|Cefixime(DB00671)|Cefradine(DB01333)|Ceftazidime(DB00438)|Cephalexin(DB00567)|Cephaloglycin(DB00689)|Choline(DB00122)|Cimetidine(DB00501)|Clonidine(DB00575)|Creatine(DB00148)|Cyclacillin(DB01000)|Dactinomycin(DB00970)|Desipramine(DB01151)|Diphenhydramine(DB01075)|Dopamine(DB00988)|Epinephrine(DB00668)|Furosemide(DB00695)|Guanidine(DB00536)|Histamine Phosphate(DB00667)|Ipratropium bromide(DB00332)|L-Arginine(DB00125)|L-Carnitine(DB00583)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Mepyramine(DB06691)|Methamphetamine(DB01577)|Niacin(DB00627)|Nicotine(DB00184)|Norepinephrine(DB00368)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Probenecid(DB01032)|Procainamide(DB01035)|Quinidine(DB00908)|Quinine(DB00468)|Sparfloxacin(DB01208)|Thiamine(DB00152)|Tiotropium(DB01409)|Valproic Acid(DB00313)|Verapamil(DB00661)	CATCCCTGAGTCCCCCCGATGG	0.545											OREG0016767	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000245407.3																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|stomach(1)	8	GRCh37	CM045438	SLC22A5	M		c.(838-840)cccfs		solute carrier family 22 (organic cation/carnitine transporter), member 5	L-Carnitine(DB00583)																																			SO:0001589	frameshift_variant	6584				positive regulation of intestinal epithelial structure maintenance|quorum sensing involved in interaction with host|sodium ion transport|sodium-dependent organic cation transport	apical plasma membrane|brush border membrane|integral to membrane	ATP binding|carnitine transporter activity|PDZ domain binding|symporter activity	g.chr5:131722730_131722731insC	AF057164	CCDS4154.1	5q23.3	2013-05-22	2008-01-11		ENSG00000197375	ENSG00000197375		"""Solute carriers"""	10969	protein-coding gene	gene with protein product		603377		CDSP		9618255, 9916797, 9685390	Standard	NM_003060		Approved	OCTN2, SCD	uc003kww.4	O76082	OTTHUMG00000059634	ENST00000245407.3:c.844dupC	5.37:g.131722736_131722736dupC	ENSP00000245407:p.Ser280fs		Somatic	OREG0016767	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1589	SLC22A5_ENST00000435065.2_Frame_Shift_Ins_p.P304fs	p.P280fs	NM_003060.3	NP_003051.1	WXS	Illumina GAIIx	Phase_I	O76082	S22A5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		5	1059_1060	+		all_cancers(142;0.0751)|Breast(839;0.198)	280					A2Q0V1|B2R844|D3DQ87|Q6ZQZ8|Q96EH6	Frame_Shift_Ins	INS	ENST00000245407.3	37	c.838_839insC	CCDS4154.1																																																																																				0.545	SLC22A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132631.1	NM_003060		9	713						9	713	---	---	---	---
EGR1	1958	broad.mit.edu	37	5	137803131	137803132	+	Frame_Shift_Ins	INS	-	-	C	rs148475837		TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr5:137803131_137803132insC	ENST00000239938.4	+	2	1265_1266	c.993_994insC	c.(994-996)cccfs	p.P332fs		NM_001964.2	NP_001955.1	P18146	EGR1_HUMAN	early growth response 1	332					BMP signaling pathway (GO:0030509)|cellular response to antibiotic (GO:0071236)|cellular response to cAMP (GO:0071320)|cellular response to drug (GO:0035690)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to gamma radiation (GO:0071480)|cellular response to gonadotropin stimulus (GO:0071371)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heparin (GO:0071504)|cellular response to hyperoxia (GO:0071455)|cellular response to hypoxia (GO:0071456)|cellular response to insulin stimulus (GO:0032869)|cellular response to isoquinoline alkaloid (GO:0071317)|cellular response to mechanical stimulus (GO:0071260)|cellular response to mycophenolic acid (GO:0071506)|cellular response to steroid hormone stimulus (GO:0071383)|circadian rhythm (GO:0007623)|cytokine-mediated signaling pathway (GO:0019221)|glomerular mesangial cell proliferation (GO:0072110)|interleukin-1-mediated signaling pathway (GO:0070498)|learning or memory (GO:0007611)|long-term synaptic potentiation (GO:0060291)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oligodendrocyte differentiation (GO:0048709)|positive regulation of glomerular metanephric mesangial cell proliferation (GO:0072303)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of protein sumoylation (GO:0033233)|response to amphetamine (GO:0001975)|response to carbon monoxide (GO:0034465)|response to cocaine (GO:0042220)|response to electrical stimulus (GO:0051602)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to norepinephrine (GO:0071873)|response to nutrient levels (GO:0031667)|skeletal muscle cell differentiation (GO:0035914)|T cell differentiation (GO:0030217)|transcription from RNA polymerase II promoter (GO:0006366)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|histone acetyltransferase binding (GO:0035035)|metal ion binding (GO:0046872)|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)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			CCAGCAAGACGCCCCCCCACGA	0.649																																						ENST00000239938.4																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1)	6						c.(991-996)acccccfs		early growth response 1																																				SO:0001589	frameshift_variant	1958				cellular response to heparin|cellular response to mycophenolic acid|glomerular mesangial cell proliferation|interleukin-1-mediated signaling pathway|positive regulation of glomerular metanephric mesangial cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of protein sumoylation|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytoplasm|nucleus	histone acetyltransferase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr5:137803131_137803132insC	M62829	CCDS4206.1	5q23-q31	2013-01-08			ENSG00000120738	ENSG00000120738		"""Zinc fingers, C2H2-type"""	3238	protein-coding gene	gene with protein product	"""nerve growth factor-induced protein A"", ""transcription factor ETR103"", ""zinc finger protein 225"", ""early growth response protein 1"""	128990				3127059	Standard	NM_001964		Approved	TIS8, G0S30, NGFI-A, KROX-24, ZIF-268, AT225, ZNF225	uc003ldb.1	P18146	OTTHUMG00000129197	ENST00000239938.4:c.1000dupC	5.37:g.137803138_137803138dupC	ENSP00000239938:p.Pro332fs		Somatic					p.TP331fs	NM_001964.2	NP_001955.1	WXS	Illumina GAIIx	Phase_I	P18146	EGR1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)		2	1265_1266	+			331						Frame_Shift_Ins	INS	ENST00000239938.4	37	c.993_994insC	CCDS4206.1																																																																																				0.649	EGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251274.1	NM_001964		8	105						8	105	---	---	---	---
ARAP3	64411	broad.mit.edu	37	5	141049341	141049342	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr5:141049341_141049342insC	ENST00000239440.4	-	16	2351_2352	c.2286_2287insG	c.(2284-2289)gggaggfs	p.R763fs	ARAP3_ENST00000513878.1_Frame_Shift_Ins_p.R425fs|ARAP3_ENST00000508305.1_Frame_Shift_Ins_p.R665fs	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	763					cytoskeleton organization (GO:0007010)|negative regulation of cell migration (GO:0030336)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Rho protein signal transduction (GO:0035024)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						TGCTGGATCCTCCCCCCAGCGA	0.579																																						ENST00000239440.4																			0				NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						c.(2284-2289)ggggatfs		ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3																																				SO:0001589	frameshift_variant	64411				cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding	g.chr5:141049341_141049342insC	AJ310567	CCDS4266.1	5q31.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000120318	ENSG00000120318		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	24097	protein-coding gene	gene with protein product		606647	"""centaurin, delta 3"""	CENTD3		11804589, 12015138	Standard	XM_005268497		Approved	FLJ21065, DRAG1	uc003llm.3	Q8WWN8	OTTHUMG00000129610	ENST00000239440.4:c.2287dupG	5.37:g.141049347_141049347dupC	ENSP00000239440:p.Arg763fs		Somatic				ARAP3_ENST00000508305.1_Frame_Shift_Ins_p.D665fs|ARAP3_ENST00000513878.1_Frame_Shift_Ins_p.D425fs	p.D763fs	NM_022481.5	NP_071926.4	WXS	Illumina GAIIx	Phase_I	Q8WWN8	ARAP3_HUMAN			16	2351_2352	-			763					B4DIT1|D3DQE3	Frame_Shift_Ins	INS	ENST00000239440.4	37	c.2286_2287insG	CCDS4266.1																																																																																				0.579	ARAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251805.1	NM_022481		12	591						12	591	---	---	---	---
PCDH12	51294	broad.mit.edu	37	5	141336747	141336748	+	Frame_Shift_Ins	INS	-	-	G	rs199646351		TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr5:141336747_141336748insG	ENST00000231484.3	-	1	1879_1880	c.669_670insC	c.(667-672)cccaagfs	p.K224fs	PCDH12_ENST00000512221.1_5'Flank	NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12	224	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|glycogen metabolic process (GO:0005977)|homophilic cell adhesion (GO:0007156)|labyrinthine layer development (GO:0060711)|neuron recognition (GO:0008038)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTACCTGACTTGGGGGGGTTCC	0.48																																						ENST00000231484.3																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38						c.(667-672)ccagtcfs		protocadherin 12				5,4259		0,5,2127						5.1	1.0			79	6,8238		0,6,4116	no	frameshift	PCDH12	NM_016580.2		0,11,6243	A1A1,A1R,RR		0.0728,0.1173,0.0879				11,12497				SO:0001589	frameshift_variant	51294				neuron recognition	integral to plasma membrane	calcium ion binding	g.chr5:141336747_141336748insG	AF231025	CCDS4269.1	5q31.3	2010-01-26			ENSG00000113555	ENSG00000113555		"""Cadherins / Protocadherins : Non-clustered"""	8657	protein-coding gene	gene with protein product		605622				10716726, 10380929	Standard	NM_016580		Approved	VE-cadherin-2	uc003llx.3	Q9NPG4	OTTHUMG00000129658	ENST00000231484.3:c.670dupC	5.37:g.141336754_141336754dupG	ENSP00000231484:p.Lys224fs		Somatic					p.V224fs	NM_016580.2	NP_057664.1	WXS	Illumina GAIIx	Phase_I	Q9NPG4	PCD12_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1879_1880	-		all_hematologic(541;0.0999)	224			Cadherin 2.		Q6UXB6|Q96KB8|Q9H7Y6|Q9H8E0	Frame_Shift_Ins	INS	ENST00000231484.3	37	c.669_670insC	CCDS4269.1																																																																																				0.480	PCDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251858.1	NM_016580		13	248						13	248	---	---	---	---
PPP2R2B	5521	broad.mit.edu	37	5	145969651	145969652	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr5:145969651_145969652insC	ENST00000394413.3	-	9	1760_1761	c.1190_1191insG	c.(1189-1191)ggcfs	p.G397fs	PPP2R2B_ENST00000336640.6_Frame_Shift_Ins_p.G400fs|CTB-99A3.1_ENST00000512730.1_RNA|PPP2R2B_ENST00000530902.1_5'UTR|PPP2R2B_ENST00000394409.3_Frame_Shift_Ins_p.G455fs|PPP2R2B_ENST00000394414.1_Frame_Shift_Ins_p.G463fs|PPP2R2B_ENST00000394411.4_Frame_Shift_Ins_p.G397fs|PPP2R2B_ENST00000508545.2_Frame_Shift_Ins_p.G386fs|PPP2R2B_ENST00000504198.1_Frame_Shift_Ins_p.G403fs|PPP2R2B_ENST00000453001.1_Frame_Shift_Ins_p.G397fs|PPP2R2B_ENST00000356826.3_Frame_Shift_Ins_p.G397fs|PPP2R2B_ENST00000394410.2_Frame_Shift_Ins_p.G386fs			Q00005	2ABB_HUMAN	protein phosphatase 2, regulatory subunit B, beta	397					apoptotic process (GO:0006915)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	cytoskeleton (GO:0005856)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)			endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3)	32			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTCTCCGCTTGCCCCCCACACA	0.5																																						ENST00000394413.3																			0				endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3)	32						c.(1189-1191)gaafs		protein phosphatase 2, regulatory subunit B, beta																																				SO:0001589	frameshift_variant	5521				apoptosis|signal transduction	cytoskeleton|mitochondrial outer membrane|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity	g.chr5:145969651_145969652insC	M64930	CCDS4283.1, CCDS4284.1, CCDS43380.1, CCDS4284.2, CCDS64282.1	5q32	2013-01-10	2010-04-14		ENSG00000156475	ENSG00000156475	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"", ""WD repeat domain containing"""	9305	protein-coding gene	gene with protein product	"""PP2A subunit B isoform beta"""	604325	"""spinocerebellar ataxia 12"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B (PR 52), beta isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B, beta isoform"""	SCA12		1849734, 10581021	Standard	NM_181674		Approved	PR55-BETA, PR52B	uc003log.5	Q00005	OTTHUMG00000163381	ENST00000394413.3:c.1191dupG	5.37:g.145969657_145969657dupC	ENSP00000377935:p.Gly397fs		Somatic				PPP2R2B_ENST00000453001.1_Frame_Shift_Ins_p.E397fs|PPP2R2B_ENST00000394411.4_Frame_Shift_Ins_p.E397fs|PPP2R2B_ENST00000394409.3_Frame_Shift_Ins_p.E455fs|PPP2R2B_ENST00000394414.1_Frame_Shift_Ins_p.E463fs|PPP2R2B_ENST00000508545.2_Frame_Shift_Ins_p.E386fs|PPP2R2B_ENST00000504198.1_Frame_Shift_Ins_p.E403fs|PPP2R2B_ENST00000336640.6_Frame_Shift_Ins_p.E400fs|PPP2R2B_ENST00000394410.2_Frame_Shift_Ins_p.E386fs|CTB-99A3.1_ENST00000512730.1_RNA|PPP2R2B_ENST00000356826.3_Frame_Shift_Ins_p.E397fs|PPP2R2B_ENST00000530902.1_5'UTR	p.E397fs			WXS	Illumina GAIIx	Phase_I	Q00005	2ABB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		9	1760_1761	-			397					A6NEJ2|A8K102|B3KPD0|B7Z2F2|B7Z304|D3DQF7|D3DQF8|G3V149	Frame_Shift_Ins	INS	ENST00000394413.3	37	c.1190_1191insG	CCDS4284.1																																																																																				0.500	PPP2R2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251893.2	NM_181678		7	666						7	666	---	---	---	---
SLC6A7	6534	broad.mit.edu	37	5	149580754	149580755	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr5:149580754_149580755insC	ENST00000230671.2	+	6	1197_1198	c.826_827insC	c.(826-828)accfs	p.T276fs	SLC6A7_ENST00000524041.1_Frame_Shift_Ins_p.T276fs	NM_014228.3	NP_055043.2	Q99884	SC6A7_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 7	276					proline transport (GO:0015824)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)|stomach(1)	16		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Proline(DB00172)	GTTCTATCTCACCCCCCAGTTC	0.634																																						ENST00000230671.2																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)|stomach(1)	16						c.(826-828)cccfs		solute carrier family 6 (neurotransmitter transporter), member 7	L-Proline(DB00172)																																			SO:0001589	frameshift_variant	6534					integral to plasma membrane|membrane fraction	neurotransmitter:sodium symporter activity|proline:sodium symporter activity	g.chr5:149580754_149580755insC	S80071	CCDS4305.1	5q32	2013-07-19	2013-07-19		ENSG00000011083	ENSG00000011083		"""Solute carriers"""	11054	protein-coding gene	gene with protein product	"""brain-specific L-proline transporter"", ""sodium-dependent proline transporter"""	606205	"""solute carrier family 6 (neurotransmitter transporter, L-proline), member 7"""			7651355	Standard	NM_014228		Approved	PROT	uc003lrr.3	Q99884	OTTHUMG00000130046	ENST00000230671.2:c.832dupC	5.37:g.149580760_149580760dupC	ENSP00000230671:p.Thr276fs		Somatic				SLC6A7_ENST00000524041.1_Frame_Shift_Ins_p.P276fs	p.P276fs	NM_014228.3	NP_055043.2	WXS	Illumina GAIIx	Phase_I	Q99884	SC6A7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		6	1197_1198	+		all_hematologic(541;0.224)	276					Q0VG81|Q52LU6	Frame_Shift_Ins	INS	ENST00000230671.2	37	c.826_827insC	CCDS4305.1																																																																																				0.634	SLC6A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252325.1	NM_014228		9	213						9	213	---	---	---	---
SLC6A7	6534	broad.mit.edu	37	5	149581960	149581961	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr5:149581960_149581961insG	ENST00000230671.2	+	7	1280_1281	c.909_910insG	c.(910-912)gggfs	p.G304fs	SLC6A7_ENST00000524041.1_Frame_Shift_Ins_p.G304fs	NM_014228.3	NP_055043.2	Q99884	SC6A7_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 7	304					proline transport (GO:0015824)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)|stomach(1)	16		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Proline(DB00172)	GTGTGGGCTTCGGGGGGCTCCT	0.569																																						ENST00000230671.2																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)|stomach(1)	16						c.(907-912)ttggggfs		solute carrier family 6 (neurotransmitter transporter), member 7	L-Proline(DB00172)																																			SO:0001589	frameshift_variant	6534					integral to plasma membrane|membrane fraction	neurotransmitter:sodium symporter activity|proline:sodium symporter activity	g.chr5:149581960_149581961insG	S80071	CCDS4305.1	5q32	2013-07-19	2013-07-19		ENSG00000011083	ENSG00000011083		"""Solute carriers"""	11054	protein-coding gene	gene with protein product	"""brain-specific L-proline transporter"", ""sodium-dependent proline transporter"""	606205	"""solute carrier family 6 (neurotransmitter transporter, L-proline), member 7"""			7651355	Standard	NM_014228		Approved	PROT	uc003lrr.3	Q99884	OTTHUMG00000130046	ENST00000230671.2:c.915dupG	5.37:g.149581966_149581966dupG	ENSP00000230671:p.Gly304fs		Somatic				SLC6A7_ENST00000524041.1_Frame_Shift_Ins_p.LG303fs	p.LG303fs	NM_014228.3	NP_055043.2	WXS	Illumina GAIIx	Phase_I	Q99884	SC6A7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		7	1280_1281	+		all_hematologic(541;0.224)	303					Q0VG81|Q52LU6	Frame_Shift_Ins	INS	ENST00000230671.2	37	c.909_910insG	CCDS4305.1																																																																																				0.569	SLC6A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252325.1	NM_014228		16	544						16	544	---	---	---	---
GALNT10	55568	broad.mit.edu	37	5	153756009	153756010	+	Frame_Shift_Ins	INS	-	-	C	rs540440277		TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr5:153756009_153756010insC	ENST00000297107.6	+	5	878_879	c.741_742insC	c.(742-744)cccfs	p.P248fs	GALNT10_ENST00000377661.2_Intron|GALNT10_ENST00000519544.1_3'UTR|SAP30L-AS1_ENST00000519727.1_RNA|GALNT10_ENST00000425427.2_Frame_Shift_Ins_p.P248fs	NM_198321.3	NP_938080.1	Q86SR1	GLT10_HUMAN	polypeptide N-acetylgalactosaminyltransferase 10	248	Catalytic subdomain A.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	32	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)			TCAACTGGCTTCCCCCCTTGCT	0.584																																						ENST00000297107.6																			0				cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	32						c.(739-744)ctccccfs		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10)																																				SO:0001589	frameshift_variant	55568					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr5:153756009_153756010insC	AK023782	CCDS4325.1	5q34	2014-03-13	2014-03-13		ENSG00000164574	ENSG00000164574	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	19873	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 10"""	608043	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10)"""			12417297	Standard	NM_198321		Approved	GalNAc-T10	uc003lvh.3	Q86SR1	OTTHUMG00000130145	ENST00000297107.6:c.747dupC	5.37:g.153756015_153756015dupC	ENSP00000297107:p.Pro248fs		Somatic				SAP30L-AS1_ENST00000519727.1_RNA|GALNT10_ENST00000425427.2_Frame_Shift_Ins_p.LP247fs|GALNT10_ENST00000519544.1_3'UTR|GALNT10_ENST00000377661.2_Intron	p.LP247fs	NM_198321.3	NP_938080.1	WXS	Illumina GAIIx	Phase_I	Q86SR1	GLT10_HUMAN	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)		5	878_879	+	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21)	247			Catalytic subdomain A.		B3KXC9|Q6IN56|Q86VP8|Q8IXJ2|Q8TEJ2|Q96IV2|Q9H8E1|Q9Y4M4	Frame_Shift_Ins	INS	ENST00000297107.6	37	c.741_742insC	CCDS4325.1																																																																																				0.584	GALNT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252453.1	NM_198321		7	254						7	254	---	---	---	---
DOCK2	1794	broad.mit.edu	37	5	169141139	169141140	+	Frame_Shift_Ins	INS	-	-	G	rs34864600	byFrequency	TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr5:169141139_169141140insG	ENST00000256935.8	+	18	1847_1848	c.1767_1768insG	c.(1768-1770)gggfs	p.G590fs	DOCK2_ENST00000540750.1_5'UTR|DOCK2_ENST00000520908.1_Frame_Shift_Ins_p.G82fs	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	590	DHR-1.				actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CCAGCAGTGTTGGGGGGCTTTC	0.545																																						ENST00000256935.8																			0				NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160						c.(1765-1770)gtggggfs		dedicator of cytokinesis 2																																				SO:0001589	frameshift_variant	1794				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding	g.chr5:169141139_169141140insG	BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"""dedicator of cyto-kinesis 2"""				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.1773dupG	5.37:g.169141145_169141145dupG	ENSP00000256935:p.Gly590fs		Somatic				DOCK2_ENST00000520908.1_Frame_Shift_Ins_p.VG81fs|DOCK2_ENST00000540750.1_5'UTR	p.VG589fs	NM_004946.2	NP_004937.1	WXS	Illumina GAIIx	Phase_I	Q92608	DOCK2_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		18	1847_1848	+	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	589			DHR-1.		Q2M3I0|Q96AK7	Frame_Shift_Ins	INS	ENST00000256935.8	37	c.1767_1768insG	CCDS4371.1																																																																																				0.545	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2	NM_004946		10	381						10	381	---	---	---	---
KIAA1191	57179	broad.mit.edu	37	5	175774701	175774702	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr5:175774701_175774702insG	ENST00000298569.4	-	9	1352_1353	c.819_820insC	c.(817-822)cccaagfs	p.K274fs	KIAA1191_ENST00000393725.2_Frame_Shift_Ins_p.K255fs|KIAA1191_ENST00000510164.1_Frame_Shift_Ins_p.K274fs|KIAA1191_ENST00000393728.2_5'UTR|RP11-843P14.2_ENST00000508187.1_RNA	NM_020444.3	NP_065177.2	Q96A73	P33MX_HUMAN	KIAA1191	274						cytoplasm (GO:0005737)	oxidoreductase activity (GO:0016491)			endometrium(1)|kidney(1)|lung(2)|ovary(1)|skin(1)	6	all_cancers(89;0.00575)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.101)		ATGTCCATCTTGGGGGGCTTCA	0.579																																						ENST00000298569.4																			0				endometrium(1)|kidney(1)|lung(2)|ovary(1)|skin(1)	6						c.(817-822)ccagatfs		KIAA1191																																				SO:0001589	frameshift_variant	57179						protein binding	g.chr5:175774701_175774702insG	BC010448	CCDS4399.1, CCDS43402.1, CCDS75373.1	5q35.2	2008-02-05			ENSG00000122203	ENSG00000122203			29209	protein-coding gene	gene with protein product						10574461, 10565538	Standard	XM_005265941		Approved	FLJ21022	uc003mdy.3	Q96A73	OTTHUMG00000130656	ENST00000298569.4:c.820dupC	5.37:g.175774707_175774707dupG	ENSP00000298569:p.Lys274fs		Somatic				KIAA1191_ENST00000393728.2_5'UTR|KIAA1191_ENST00000393725.2_Frame_Shift_Ins_p.D255fs|KIAA1191_ENST00000510164.1_Frame_Shift_Ins_p.D274fs	p.D274fs	NM_020444.3	NP_065177.2	WXS	Illumina GAIIx	Phase_I	Q96A73	K1191_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.101)	9	1352_1353	-	all_cancers(89;0.00575)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	274					B2RD69|B8K1S6|Q6IA24|Q8NDU3|Q9BRE5|Q9H7D5|Q9ULM9	Frame_Shift_Ins	INS	ENST00000298569.4	37	c.819_820insC	CCDS4399.1																																																																																				0.579	KIAA1191-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253146.2	NM_020444		7	345						7	345	---	---	---	---
GCNT2	2651	broad.mit.edu	37	6	10557409	10557410	+	Intron	INS	-	-	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr6:10557409_10557410insC	ENST00000379597.3	+	1	1481				GCNT2_ENST00000316170.3_Frame_Shift_Ins_p.P252fs|GCNT2_ENST00000410107.1_Intron|GCNT2_ENST00000397423.2_Intron|GCNT2_ENST00000495262.1_Intron			Q8N0V5	GNT2A_HUMAN	glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)						maintenance of lens transparency (GO:0036438)|negative regulation of cell-substrate adhesion (GO:0010812)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of protein kinase B signaling (GO:0051897)|posttranscriptional regulation of gene expression (GO:0010608)|protein glycosylation (GO:0006486)|transforming growth factor beta receptor signaling pathway (GO:0007179)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity (GO:0008109)			endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)		TGAAACCGCCTCCCCCCCATAA	0.485																																						ENST00000316170.3																			0				endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12						c.(751-756)ccccccfs		glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)																																				SO:0001627	intron_variant	2651					Golgi membrane|integral to membrane	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity	g.chr6:10557409_10557410insC	L41605	CCDS4512.1, CCDS4513.1, CCDS34338.1	6p24.2	2014-07-18	2006-02-23		ENSG00000111846	ENSG00000111846	2.4.1.150	"""Blood group antigens"", ""Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"""	4204	protein-coding gene	gene with protein product	"""Ii blood group"", ""unassigned linkage group 3"""	600429	"""glucosaminyl (N-acetyl) transferase 5"", ""glucosaminyl (N-acetyl) transferase 2, I-branching enzyme"", ""glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (Ii blood group)"", ""cataract, congenital"""	NACGT1, II, GCNT5, CCAT		8449405, 9915862	Standard	NM_145649		Approved	IGNT, NAGCT1, bA421M1.1, bA360O19.2, ULG3	uc003mze.3	Q06430	OTTHUMG00000014244	ENST00000379597.3:c.925+27340->C	6.37:g.10557416_10557416dupC			Somatic				GCNT2_ENST00000495262.1_Intron|GCNT2_ENST00000410107.1_Intron|GCNT2_ENST00000379597.3_Intron|GCNT2_ENST00000397423.2_Intron	p.PP251fs	NM_001491.2	NP_001482.1	WXS	Illumina GAIIx	Phase_I	Q8N0V5	GNT2A_HUMAN		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)	1	1170_1171	+	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)	253						Frame_Shift_Ins	INS	ENST00000379597.3	37	c.753_754insC	CCDS34338.1																																																																																				0.485	GCNT2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327912.3	NM_145649		18	369						18	369	---	---	---	---
PHACTR1	221692	broad.mit.edu	37	6	13206134	13206135	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr6:13206134_13206135insG	ENST00000379350.1	+	7	881_882	c.752_753insG	c.(751-756)gtggggfs	p.VG251fs	PHACTR1_ENST00000332995.7_Frame_Shift_Ins_p.VG251fs|PHACTR1_ENST00000457702.2_Frame_Shift_Ins_p.VG106fs|PHACTR1_ENST00000379345.2_Intron			Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	251					actin cytoskeleton reorganization (GO:0031532)|actomyosin structure organization (GO:0031032)|cell motility (GO:0048870)|stress fiber assembly (GO:0043149)	cell junction (GO:0030054)|cytosol (GO:0005829)|nucleus (GO:0005634)|synapse (GO:0045202)	actin binding (GO:0003779)|protein phosphatase inhibitor activity (GO:0004864)			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			TGTATGCCCGTGGGGGGGCCAG	0.599																																						ENST00000379350.1																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26						c.(751-753)gggfs		phosphatase and actin regulator 1																																				SO:0001589	frameshift_variant	221692					cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity	g.chr6:13206134_13206135insG	AB051520	CCDS75401.1	6p23	2013-01-24	2004-05-20	2004-05-21	ENSG00000112137	ENSG00000112137		"""Phosphatase and actin regulators"""	20990	protein-coding gene	gene with protein product		608723	"""RPEL repeat containing 1"""	RPEL1		11214970, 15107502	Standard	NM_030948		Approved	KIAA1733, dJ257A7.2	uc010jpc.3	Q9C0D0	OTTHUMG00000014270	ENST00000379350.1:c.759dupG	6.37:g.13206141_13206141dupG	ENSP00000368655:p.Val251fs		Somatic				PHACTR1_ENST00000457702.2_Frame_Shift_Ins_p.G106fs|PHACTR1_ENST00000332995.7_Frame_Shift_Ins_p.G251fs|PHACTR1_ENST00000379345.2_Intron	p.G251fs			WXS	Illumina GAIIx	Phase_I	Q9C0D0	PHAR1_HUMAN	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)		7	881_882	+	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	251					A8K1V2|Q3MJ93|Q5JSJ2	Frame_Shift_Ins	INS	ENST00000379350.1	37	c.752_753insG																																																																																					0.599	PHACTR1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039876.1	XM_166420		9	110						9	110	---	---	---	---
DCDC2	51473	broad.mit.edu	37	6	24205282	24205283	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr6:24205282_24205283insC	ENST00000378454.3	-	8	1271_1272	c.970_971insG	c.(970-972)gcafs	p.A324fs	DCDC2_ENST00000378450.3_Frame_Shift_Ins_p.A77fs	NM_001195610.1|NM_016356.3	NP_001182539.1|NP_057440.2	Q9UHG0	DCDC2_HUMAN	doublecortin domain containing 2	324					cellular defense response (GO:0006968)|dendrite morphogenesis (GO:0048813)|intracellular signal transduction (GO:0035556)|neuron migration (GO:0001764)|visual learning (GO:0008542)					breast(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32		Ovarian(999;0.101)				GACTTCTGCTGCCCCCCGTGTT	0.411																																						ENST00000378454.3																			0				breast(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						c.(970-972)agcfs		doublecortin domain containing 2			,	0,4262		0,0,2131					,	6.1	1.0			246	1,8253		0,1,4126	no	frameshift,frameshift	DCDC2	NM_016356.3,NM_001195610.1	,	0,1,6257	A1A1,A1R,RR		0.0121,0.0,0.0080	,	,		1,12515				SO:0001589	frameshift_variant	51473				cellular defense response|intracellular signal transduction|neuron migration			g.chr6:24205282_24205283insC	AB032980	CCDS4550.1	6p22.1	2008-02-05			ENSG00000146038	ENSG00000146038			18141	protein-coding gene	gene with protein product		605755				10601354, 10574461	Standard	NM_001195610		Approved	RU2, KIAA1154, DCDC2A	uc003ndx.3	Q9UHG0	OTTHUMG00000016275	ENST00000378454.3:c.971dupG	6.37:g.24205288_24205288dupC	ENSP00000367715:p.Ala324fs		Somatic				DCDC2_ENST00000378450.3_Frame_Shift_Ins_p.S77fs	p.S324fs	NM_001195610.1|NM_016356.3	NP_001182539.1|NP_057440.2	WXS	Illumina GAIIx	Phase_I	Q9UHG0	DCDC2_HUMAN			8	1271_1272	-		Ovarian(999;0.101)	324					Q5VTR8|Q5VTR9|Q86W35|Q9UFD1|Q9UHG1|Q9ULR6	Frame_Shift_Ins	INS	ENST00000378454.3	37	c.970_971insG	CCDS4550.1																																																																																				0.411	DCDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043604.1	NM_016356		19	1147						19	1147	---	---	---	---
GABBR1	2550	broad.mit.edu	37	6	29577143	29577144	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr6:29577143_29577144insG	ENST00000377034.4	-	15	2056_2057	c.1721_1722insC	c.(1720-1722)ccafs	p.P574fs	GABBR1_ENST00000355973.3_Frame_Shift_Ins_p.P457fs|GABBR1_ENST00000377016.4_Frame_Shift_Ins_p.P512fs|GABBR1_ENST00000377012.4_Frame_Shift_Ins_p.P457fs|GABBR1_ENST00000376977.3_Intron	NM_001470.2	NP_001461.1	Q9UBS5	GABR1_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 1	574					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|gamma-aminobutyric acid signaling pathway (GO:0007214)|negative regulation of adenylate cyclase activity (GO:0007194)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|G-protein coupled receptor heterodimeric complex (GO:0038039)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	G-protein coupled GABA receptor activity (GO:0004965)			endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47					Baclofen(DB00181)|Progabide(DB00837)|Vigabatrin(DB01080)	TCTGGTCAGCTGGGGGGGACCC	0.54																																						ENST00000377034.4																			0				endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(1720-1722)cgcfs		gamma-aminobutyric acid (GABA) B receptor, 1	Baclofen(DB00181)|Progabide(DB00837)																																			SO:0001589	frameshift_variant	2550				gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity	g.chr6:29577143_29577144insG	Y11044	CCDS4663.1, CCDS4664.1, CCDS4665.1	6p21.3	2012-08-29			ENSG00000204681	ENSG00000204681		"""GABA receptors"", ""GPCR / Class C : GABA(B) receptors"""	4070	protein-coding gene	gene with protein product	"""GABA-B receptor"""	603540				9753614, 9798068	Standard	NM_001470		Approved	hGB1a, GPRC3A	uc003nmt.4	Q9UBS5	OTTHUMG00000031095	ENST00000377034.4:c.1722dupC	6.37:g.29577150_29577150dupG	ENSP00000366233:p.Pro574fs		Somatic				GABBR1_ENST00000376977.3_Intron|GABBR1_ENST00000355973.3_Frame_Shift_Ins_p.R457fs|GABBR1_ENST00000377016.4_Frame_Shift_Ins_p.R512fs|GABBR1_ENST00000377012.4_Frame_Shift_Ins_p.R457fs	p.R574fs	NM_001470.2	NP_001461.1	WXS	Illumina GAIIx	Phase_I	Q9UBS5	GABR1_HUMAN			15	2056_2057	-			574					B0UXY7|O95375|O95468|O95975|O96022|Q5STL4|Q5SUJ8|Q5SUL3|Q71SG6|Q86W60|Q9UQQ0	Frame_Shift_Ins	INS	ENST00000377034.4	37	c.1721_1722insC	CCDS4663.1																																																																																				0.540	GABBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076141.3			7	172						7	172	---	---	---	---
MOG	4340	broad.mit.edu	37	6	29627216	29627217	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr6:29627216_29627217insC	ENST00000376917.3	+	2	438_439	c.209_210insC	c.(208-213)cgccccfs	p.RP70fs	MOG_ENST00000490427.1_Intron|MOG_ENST00000396701.2_Frame_Shift_Ins_p.RP70fs|MOG_ENST00000376891.4_Frame_Shift_Ins_p.RP70fs|MOG_ENST00000494692.1_Frame_Shift_Ins_p.RP70fs|MOG_ENST00000416766.2_Frame_Shift_Ins_p.RP70fs|MOG_ENST00000483013.1_Intron|MOG_ENST00000376902.3_Frame_Shift_Ins_p.RP70fs|MOG_ENST00000396704.3_Frame_Shift_Ins_p.RP70fs|MOG_ENST00000431798.2_Frame_Shift_Ins_p.RP70fs|MOG_ENST00000376888.2_Intron|MOG_ENST00000376894.4_Frame_Shift_Ins_p.RP70fs|MOG_ENST00000376898.3_Frame_Shift_Ins_p.RP70fs|MOG_ENST00000469603.1_3'UTR|MOG_ENST00000533330.2_Frame_Shift_Ins_p.RP70fs	NM_002433.4|NM_206809.3	NP_002424.3|NP_996532.2	Q16653	MOG_HUMAN	myelin oligodendrocyte glycoprotein	70	Ig-like V-type.				cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|positive regulation of MyD88-dependent toll-like receptor signaling pathway (GO:0034126)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.F73fs*29(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2)	19						GGGTGGTACCGCCCCCCCTTCT	0.569																																						ENST00000376894.4																			1	Deletion - Frameshift(1)	p.F73fs*29(1)	lung(1)	endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2)	19						c.(208-210)cccfs		myelin oligodendrocyte glycoprotein																																				SO:0001589	frameshift_variant	4340				cell adhesion|central nervous system development|positive regulation of MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane		g.chr6:29627216_29627217insC		CCDS4667.1, CCDS34366.1, CCDS34367.1, CCDS34368.1, CCDS34369.1, CCDS34370.1, CCDS47394.1, CCDS47395.1, CCDS47395.2, CCDS54977.1	6p22.1	2014-01-16			ENSG00000204655	ENSG00000204655		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	7197	protein-coding gene	gene with protein product		159465					Standard	NM_002433		Approved	BTN6, BTNL11	uc003nne.3	Q16653	OTTHUMG00000031099	ENST00000376917.3:c.216dupC	6.37:g.29627223_29627223dupC	ENSP00000366115:p.Arg70fs		Somatic				MOG_ENST00000376898.3_Frame_Shift_Ins_p.P70fs|MOG_ENST00000469603.1_3'UTR|MOG_ENST00000396704.3_Frame_Shift_Ins_p.P70fs|MOG_ENST00000490427.1_Intron|MOG_ENST00000396701.2_Frame_Shift_Ins_p.P70fs|MOG_ENST00000416766.2_Frame_Shift_Ins_p.P70fs|MOG_ENST00000494692.1_Frame_Shift_Ins_p.P70fs|MOG_ENST00000533330.2_Frame_Shift_Ins_p.P70fs|MOG_ENST00000431798.2_Frame_Shift_Ins_p.P70fs|MOG_ENST00000376902.3_Frame_Shift_Ins_p.P70fs|MOG_ENST00000376891.4_Frame_Shift_Ins_p.P70fs|MOG_ENST00000376888.2_Intron|MOG_ENST00000376917.3_Frame_Shift_Ins_p.P70fs|MOG_ENST00000483013.1_Intron	p.P70fs			WXS	Illumina GAIIx	Phase_I	Q16653	MOG_HUMAN			2	327_328	+			70			Ig-like V-type.		A6NDR4|A6NNJ9|A8MY31|B0UZR9|E9PGF0|F8W9D5|O00713|O00714|O00715|Q13054|Q13055|Q14855|Q29ZN8|Q56UY0|Q5JNX7|Q5JNY1|Q5JNY2|Q5JNY4|Q5SSB5|Q5SSB6|Q5STL9|Q5STM0|Q5STM1|Q5STM2|Q5STM5|Q5SUK5|Q5SUK7|Q5SUK8|Q5SUK9|Q5SUL0|Q5SUL1|Q8IYG5|Q92891|Q92892|Q92893|Q92894|Q92895|Q93053|Q96KU9|Q96KV0|Q96KV1|Q99605	Frame_Shift_Ins	INS	ENST00000376917.3	37	c.209_210insC	CCDS34370.1																																																																																				0.569	MOG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076160.3	NM_002433		13	259						13	259	---	---	---	---
LY6G6C	80740	broad.mit.edu	37	6	31692528	31692529	+	5'Flank	INS	-	-	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr6:31692528_31692529insC	ENST00000375819.2	-	0	0				C6orf25_ENST00000375809.3_Frame_Shift_Ins_p.S183fs|C6orf25_ENST00000480039.1_Intron|DDAH2_ENST00000480913.1_5'Flank|C6orf25_ENST00000375805.2_Frame_Shift_Ins_p.P153fs|C6orf25_ENST00000375810.4_Frame_Shift_Ins_p.S183fs	NM_025261.2	NP_079537.1	O95867	LY66C_HUMAN	lymphocyte antigen 6 complex, locus G6C							anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				NS(1)|large_intestine(1)|lung(1)|skin(1)	4						TTCAGCTCTGTCCCCCCCACAT	0.579																																						ENST00000375809.3																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	9						c.(547-549)cccfs		chromosome 6 open reading frame 25			,,,,,	3,4261		0,3,2129					,,,,,	1.1	1.0			67	4,8248		0,4,4122	no	frameshift,intron,frameshift,frameshift,intron,frameshift	C6orf25	NM_138277.2,NM_138275.2,NM_138274.2,NM_138273.2,NM_138272.2,NM_025260.3	,,,,,	0,7,6251	A1A1,A1R,RR		0.0485,0.0704,0.0559	,,,,,	,,,,,		7,12509				SO:0001631	upstream_gene_variant	80739					endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	heparin binding|receptor activity	g.chr6:31692528_31692529insC		CCDS4714.1	6p21	2008-08-29	2002-07-29	2002-08-01	ENSG00000204421	ENSG00000204421			13936	protein-coding gene	gene with protein product		610435	"""chromosome 6 open reading frame 24"""	C6orf24		10384126, 12079290	Standard	NM_025261		Approved	G6c, NG24	uc003nwh.3	O95867	OTTHUMG00000031251		6.37:g.31692535_31692535dupC	Exception_encountered		Somatic				C6orf25_ENST00000480039.1_Intron|C6orf25_ENST00000375810.4_Frame_Shift_Ins_p.P183fs|C6orf25_ENST00000375805.2_Frame_Shift_Ins_p.CP152fs	p.P183fs	NM_025260.3|NM_138272.2|NM_138277.2	NP_079536.2|NP_612116.1|NP_612121.1	WXS	Illumina GAIIx	Phase_I	O95866	G6B_HUMAN			5	558_559	+			0					Q5SRS8|Q8IY94	Frame_Shift_Ins	INS	ENST00000375819.2	37	c.547_548insC	CCDS4714.1																																																																																				0.579	LY6G6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076530.2			13	236						13	236	---	---	---	---
VARS	7407	broad.mit.edu	37	6	31759454	31759455	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr6:31759454_31759455insG	ENST00000375663.3	-	8	1472_1473	c.1032_1033insC	c.(1030-1035)cccaatfs	p.N345fs	VARS_ENST00000444930.2_Frame_Shift_Ins_p.N50fs	NM_006295.2	NP_006286.1	P26640	SYVC_HUMAN	valyl-tRNA synthetase	345					gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)|valyl-tRNA aminoacylation (GO:0006438)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|valine-tRNA ligase activity (GO:0004832)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30					L-Valine(DB00161)	CCTGTCACATTGGGGGGTGGGA	0.564																																						ENST00000375663.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30						c.(1030-1035)ccatgtfs		valyl-tRNA synthetase	L-Valine(DB00161)																																			SO:0001589	frameshift_variant	7407				translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity	g.chr6:31759454_31759455insG	BC012808	CCDS34412.1	6p21.3	2011-07-01		2005-07-05	ENSG00000204394	ENSG00000204394	6.1.1.9	"""Aminoacyl tRNA synthetases / Class I"""	12651	protein-coding gene	gene with protein product	"""valine tRNA ligase 1, cytoplasmic"""	192150	"""valyl-tRNA synthetase 2"""	VARS2		15779907	Standard	XM_005249362		Approved		uc003nxe.3	P26640	OTTHUMG00000031286	ENST00000375663.3:c.1033dupC	6.37:g.31759460_31759460dupG	ENSP00000364815:p.Asn345fs		Somatic				VARS_ENST00000444930.2_Frame_Shift_Ins_p.C50fs	p.C345fs	NM_006295.2	NP_006286.1	WXS	Illumina GAIIx	Phase_I	P26640	SYVC_HUMAN			8	1472_1473	-			345					B0V1N1|B4DZ61|Q5JQ90|Q96E77|Q9UQM2	Frame_Shift_Ins	INS	ENST00000375663.3	37	c.1032_1033insC	CCDS34412.1																																																																																				0.564	VARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076619.2	NM_006295		8	156						8	156	---	---	---	---
RING1	6015	broad.mit.edu	37	6	33178989	33178990	+	Frame_Shift_Ins	INS	-	-	G	rs572254268	byFrequency	TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr6:33178989_33178990insG	ENST00000374656.4	+	5	718_719	c.510_511insG	c.(511-513)gggfs	p.G171fs	RING1_ENST00000478431.1_3'UTR	NM_002931.3	NP_002922.2	Q06587	RING1_HUMAN	ring finger protein 1	171	Necessary for transcriptional repression. {ECO:0000250}.				anterior/posterior pattern specification (GO:0009952)|camera-type eye morphogenesis (GO:0048593)|histone H2A monoubiquitination (GO:0035518)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(5)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|skin(4)	17						CAACGATGAGTGGGGGGGAAGG	0.619																																						ENST00000374656.4																			0				endometrium(5)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|skin(4)	17						c.(508-513)agggggfs		ring finger protein 1																																				SO:0001589	frameshift_variant	6015				histone H2A monoubiquitination|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nuclear speck|PcG protein complex	protein binding|zinc ion binding	g.chr6:33178989_33178990insG		CCDS34424.1	6p21.3	2013-01-09			ENSG00000204227	ENSG00000204227		"""RING-type (C3HC4) zinc fingers"""	10018	protein-coding gene	gene with protein product		602045				1906426	Standard	NM_002931		Approved	RNF1	uc003odk.3	Q06587	OTTHUMG00000031278	ENST00000374656.4:c.517dupG	6.37:g.33178996_33178996dupG	ENSP00000363787:p.Gly171fs		Somatic				RING1_ENST00000478431.1_3'UTR	p.RG170fs	NM_002931.3	NP_002922.2	WXS	Illumina GAIIx	Phase_I	Q06587	RING1_HUMAN			5	718_719	+			170			Necessary for transcriptional repression (By similarity).		A8JZZ0|Q5JP96|Q5SQW2|Q86V19	Frame_Shift_Ins	INS	ENST00000374656.4	37	c.510_511insG	CCDS34424.1																																																																																				0.619	RING1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076609.2			9	282						9	282	---	---	---	---
FANCE	2178	broad.mit.edu	37	6	35425714	35425715	+	Frame_Shift_Ins	INS	-	-	C	rs587778337		TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr6:35425714_35425715insC	ENST00000229769.2	+	4	1107_1108	c.922_923insC	c.(922-924)gccfs	p.A308fs		NM_021922.2	NP_068741.1	Q9HB96	FANCE_HUMAN	Fanconi anemia, complementation group E	308	Interaction with FANCC.				DNA repair (GO:0006281)	Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(1)|skin(2)	13						ATTGGAGGATGCCCCCCCAGTT	0.54			"""N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000229769.2			yes	Rec		Fanconi anaemia E	6	6p21-p22	2178	"""N, F, S"""	"""Fanconi anemia, complementation group E"""			L		"""AML, leukemia"""			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(1)|skin(2)	13						c.(922-924)cccfs	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group E				16,4248		0,16,2116						-5.8	0.0		dbSNP_130	75	14,8240		0,14,4113	no	frameshift	FANCE	NM_021922.2		0,30,6229	A1A1,A1R,RR		0.1696,0.3752,0.2397				30,12488				SO:0001589	frameshift_variant	2178	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair	nucleoplasm	protein binding	g.chr6:35425714_35425715insC	AF265210	CCDS4805.1	6p22-p21	2014-09-17			ENSG00000112039	ENSG00000112039		"""Fanconi anemia, complementation groups"""	3586	protein-coding gene	gene with protein product		613976		FACE		7662964, 11001585	Standard	XM_005248885		Approved	FAE	uc003oko.1	Q9HB96	OTTHUMG00000014565	ENST00000229769.2:c.929dupC	6.37:g.35425721_35425721dupC	ENSP00000229769:p.Ala308fs		Somatic					p.P308fs	NM_021922.2	NP_068741.1	WXS	Illumina GAIIx	Phase_I	Q9HB96	FANCE_HUMAN			4	1107_1108	+			308			Interaction with FANCC.		A8K907|Q4ZGH2	Frame_Shift_Ins	INS	ENST00000229769.2	37	c.922_923insC	CCDS4805.1																																																																																				0.540	FANCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040282.1			47	660						47	660	---	---	---	---
HTR1E	3354	broad.mit.edu	37	6	87725846	87725847	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr6:87725846_87725847insC	ENST00000305344.5	+	2	1497_1498	c.794_795insC	c.(793-798)atccccfs	p.IP265fs		NM_000865.2	NP_000856.1	P28566	5HT1E_HUMAN	5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled	265					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cAMP metabolic process (GO:0030815)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)	p.F268fs*4(1)		breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Aripiprazole(DB01238)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ketamine(DB01221)|Loxapine(DB00408)|Methysergide(DB00247)|Olanzapine(DB00334)|Quetiapine(DB01224)|Ziprasidone(DB00246)	TCCATCAGGATCCCCCCCTTCG	0.51																																						ENST00000305344.4																			1	Insertion - Frameshift(1)	p.F268fs*4(1)	large_intestine(1)	breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41						c.(793-795)accfs		5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled	Eletriptan(DB00216)																																			SO:0001589	frameshift_variant	3354				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	protein binding|serotonin binding|serotonin receptor activity	g.chr6:87725846_87725847insC		CCDS5006.1	6q14-q15	2013-06-19	2012-02-03		ENSG00000168830	ENSG00000168830		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5291	protein-coding gene	gene with protein product		182132	"""5-hydroxytryptamine (serotonin) receptor 1E"""			1608964	Standard	NM_000865		Approved	5-HT1E	uc003pli.3	P28566	OTTHUMG00000015154	ENST00000305344.5:c.801dupC	6.37:g.87725853_87725853dupC	ENSP00000307766:p.Ile265fs		Somatic				HTR1E_ENST00000369584.1_Frame_Shift_Ins_p.T265fs	p.T265fs	NM_000865.2	NP_000856.1	WXS	Illumina GAIIx	Phase_I	P28566	5HT1E_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.055)	2	1497_1498	+		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)	265					E1P503|Q9P1Y1	Frame_Shift_Ins	INS	ENST00000305344.5	37	c.794_795insC	CCDS5006.1																																																																																				0.510	HTR1E-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000472488.2	NM_000865		14	444						14	444	---	---	---	---
KIAA0408	9729	broad.mit.edu	37	6	127767595	127767596	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr6:127767595_127767596insC	ENST00000483725.3	-	5	2204_2205	c.1868_1869insG	c.(1867-1869)ggafs	p.G623fs	SOGA3_ENST00000556132.1_3'UTR|SOGA3_ENST00000481848.2_3'UTR	NM_014702.4	NP_055517.3	Q6ZU52	K0408_HUMAN	KIAA0408	623										endometrium(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|skin(1)	28				GBM - Glioblastoma multiforme(226;0.0217)|all cancers(137;0.13)		TCACTTCCTGTCCCCCCCACAC	0.401																																						ENST00000483725.3																			0				endometrium(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|skin(1)	28						c.(1867-1869)gcafs		KIAA0408			,	4,4260		0,4,2128					,	1.5	0.5			231	7,8247		0,7,4120	no	frameshift,utr-3	KIAA0408,C6orf174	NM_014702.4,NM_001012279.2	,	0,11,6248	A1A1,A1R,RR		0.0848,0.0938,0.0879	,	,		11,12507				SO:0001589	frameshift_variant	9729						protein binding	g.chr6:127767595_127767596insC	AB007868	CCDS34531.1	6q22.33	2012-11-29			ENSG00000189367	ENSG00000189367			21636	protein-coding gene	gene with protein product							Standard	NM_014702		Approved		uc011ebs.2	Q6ZU52	OTTHUMG00000166439	ENST00000483725.3:c.1869dupG	6.37:g.127767602_127767602dupC	ENSP00000435150:p.Gly623fs		Somatic				SOGA3_ENST00000556132.1_3'UTR|SOGA3_ENST00000481848.2_3'UTR	p.A623fs	NM_014702.4	NP_055517.3	WXS	Illumina GAIIx	Phase_I	Q6ZU52	K0408_HUMAN		GBM - Glioblastoma multiforme(226;0.0217)|all cancers(137;0.13)	5	2204_2205	-			623					B3KRE5|E1P573|O43158|Q5TF20|Q7L2M2	Frame_Shift_Ins	INS	ENST00000483725.3	37	c.1868_1869insG	CCDS34531.1																																																																																				0.401	KIAA0408-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042145.3	NM_014702		23	351						23	351	---	---	---	---
EIF3B	8662	broad.mit.edu	37	7	2404085	2404086	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr7:2404085_2404086insG	ENST00000360876.4	+	6	1134_1135	c.1078_1079insG	c.(1078-1080)tggfs	p.W360fs	EIF3B_ENST00000397011.2_Frame_Shift_Ins_p.W360fs	NM_001037283.1	NP_001032360.1			eukaryotic translation initiation factor 3, subunit B											breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	24		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14)		CATTGCTCTATGGGGGGGAGAG	0.475																																						ENST00000360876.4																			0				breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	24						c.(1078-1080)gggfs		eukaryotic translation initiation factor 3, subunit B																																				SO:0001589	frameshift_variant	8662				regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex	nucleotide binding|protein complex scaffold|translation initiation factor activity	g.chr7:2404085_2404086insG	U62583	CCDS5332.1	7p22	2013-02-12	2007-07-27	2007-07-27	ENSG00000106263	ENSG00000106263		"""RNA binding motif (RRM) containing"""	3280	protein-coding gene	gene with protein product		603917	"""eukaryotic translation initiation factor 3, subunit 9 eta, 116kDa"""	EIF3S9		8995410	Standard	NM_001037283		Approved	PRT1, eIF3b	uc003sly.3	P55884	OTTHUMG00000022839	ENST00000360876.4:c.1085dupG	7.37:g.2404092_2404092dupG	ENSP00000354125:p.Trp360fs		Somatic				EIF3B_ENST00000397011.2_Frame_Shift_Ins_p.G360fs	p.G360fs	NM_001037283.1	NP_001032360.1	WXS	Illumina GAIIx	Phase_I	P55884	EIF3B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14)	6	1134_1135	+		Ovarian(82;0.0253)	360			Sufficient for interaction with EIF3E.			Frame_Shift_Ins	INS	ENST00000360876.4	37	c.1078_1079insG	CCDS5332.1																																																																																				0.475	EIF3B-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207006.1			19	364						19	364	---	---	---	---
CARD11	84433	broad.mit.edu	37	7	2968322	2968323	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr7:2968322_2968323insG	ENST00000396946.4	-	13	2066_2067	c.1663_1664insC	c.(1663-1665)cggfs	p.R555fs		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	555					Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|nucleotide phosphorylation (GO:0046939)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cytokine production (GO:0001819)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell proliferation (GO:0042102)|regulation of apoptotic process (GO:0042981)|regulation of B cell differentiation (GO:0045577)|regulation of T cell differentiation (GO:0045580)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|thymic T cell selection (GO:0045061)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	CARD domain binding (GO:0050700)|guanylate kinase activity (GO:0004385)	p.R548L(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		GCTGCGGCTCCGGGGGGGCTGC	0.589			Mis		DLBCL																																	ENST00000396946.4				Dom	yes		7	7p22	84433	Mis	"""caspase recruitment domain family, member 11"""			L			DLBCL		1	Substitution - Missense(1)	p.R548L(1)	lung(1)	NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150						c.(1663-1665)gagfs		caspase recruitment domain family, member 11																																				SO:0001589	frameshift_variant	84433				positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity	g.chr7:2968322_2968323insG	AF322641	CCDS5336.2	7p22	2014-09-17			ENSG00000198286	ENSG00000198286			16393	protein-coding gene	gene with protein product	"""card-maguk protein 1"", ""bcl10-interacting maguk protein 3"""	607210				11278692, 11356195	Standard	NM_032415		Approved	CARMA1, BIMP3	uc003smv.3	Q9BXL7	OTTHUMG00000023023	ENST00000396946.4:c.1664dupC	7.37:g.2968329_2968329dupG	ENSP00000380150:p.Arg555fs		Somatic					p.E555fs	NM_032415.4	NP_115791.3	WXS	Illumina GAIIx	Phase_I	Q9BXL7	CAR11_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)	13	2066_2067	-		Ovarian(82;0.0115)	555					A4D1Z7|Q2NKN7|Q548H3	Frame_Shift_Ins	INS	ENST00000396946.4	37	c.1663_1664insC	CCDS5336.2																																																																																				0.589	CARD11-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059344.4	NM_032415		12	357						12	357	---	---	---	---
PMS2CL	441194	broad.mit.edu	37	7	6759412	6759413	+	RNA	INS	-	-	G	rs554628923	byFrequency	TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr7:6759412_6759413insG	ENST00000486256.1	+	0	346					NR_002217.1		Q68D20	PMS2L_HUMAN	PMS2 C-terminal like pseudogene																		GTGTGCCTCCCGGGGGGGAGGT	0.569																																						ENST00000486256.1																			0																																																			441194							g.chr7:6759412_6759413insG	BC041364		7p22.1	2010-10-26			ENSG00000187953	ENSG00000187953			30061	pseudogene	pseudogene	"""postmeiotic segregation increased 2 pseudogene 13"""					15256438, 17253626	Standard	NR_002217		Approved	PMS2P13	uc011jxb.1	Q68D20	OTTHUMG00000151857		7.37:g.6759419_6759419dupG			Somatic						NR_002217.1		WXS	Illumina GAIIx	Phase_I					0	346	+								B4DK88|Q764P1	RNA	INS	ENST00000486256.1	37																																																																																						0.569	PMS2CL-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000324193.1	NR_002217		9	126						9	126	---	---	---	---
NUPL2	11097	broad.mit.edu	37	7	23224772	23224773	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr7:23224772_23224773insG	ENST00000258742.5	+	2	464_465	c.205_206insG	c.(205-207)tggfs	p.W69fs	NUPL2_ENST00000487595.1_3'UTR|NUPL2_ENST00000410002.3_Frame_Shift_Ins_p.W69fs|AC005082.1_ENST00000366347.4_Intron	NM_007342.2	NP_031368.1	O15504	NUPL2_HUMAN	nucleoporin like 2	69					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein export from nucleus (GO:0006611)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nuclear export signal receptor activity (GO:0005049)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						ATCCACACCATGGGGGGGCAGC	0.406																																						ENST00000258742.5																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(205-207)gggfs		nucleoporin like 2				6,4258		0,6,2126						4.9	1.0			85	5,8249		0,5,4122	no	frameshift	NUPL2	NM_007342.2		0,11,6248	A1A1,A1R,RR		0.0606,0.1407,0.0879				11,12507				SO:0001589	frameshift_variant	11097				carbohydrate metabolic process|glucose transport|mRNA transport|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nuclear pore	nuclear export signal receptor activity|nucleic acid binding|zinc ion binding	g.chr7:23224772_23224773insG	U97198	CCDS5379.1	7p15	2003-08-07			ENSG00000136243	ENSG00000136243			17010	protein-coding gene	gene with protein product	"""nucleoporin-like protein 1"""					10358091, 9450185	Standard	NM_007342		Approved	NLP_1, CG1, hCG1, H_RG271G13.9	uc003svu.3	O15504	OTTHUMG00000096955	ENST00000258742.5:c.212dupG	7.37:g.23224779_23224779dupG	ENSP00000258742:p.Trp69fs		Somatic				NUPL2_ENST00000410002.3_Frame_Shift_Ins_p.G69fs|NUPL2_ENST00000487595.1_3'UTR|AC005082.1_ENST00000366347.4_Intron	p.G69fs	NM_007342.2	NP_031368.1	WXS	Illumina GAIIx	Phase_I	O15504	NUPL2_HUMAN			2	464_465	+			69					A4D143|B4DP42|Q49AE7|Q9BS49	Frame_Shift_Ins	INS	ENST00000258742.5	37	c.205_206insG	CCDS5379.1																																																																																				0.406	NUPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214017.2	NM_007342		14	186						14	186	---	---	---	---
CLIP2	7461	broad.mit.edu	37	7	73731900	73731901	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr7:73731900_73731901insC	ENST00000395060.1	+	1	24_25	c.24_25insC	c.(25-27)cccfs	p.P9fs	CLIP2_ENST00000361545.5_Frame_Shift_Ins_p.P9fs|CLIP2_ENST00000223398.6_Frame_Shift_Ins_p.P9fs			Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	9						cytoplasmic microtubule (GO:0005881)|microtubule associated complex (GO:0005875)|microtubule plus-end (GO:0035371)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						GCGGCCTGAAGCCCCCCGGCCG	0.668																																						ENST00000223398.6																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						c.(22-27)aaccccfs		CAP-GLY domain containing linker protein 2																																				SO:0001589	frameshift_variant	7461					microtubule associated complex		g.chr7:73731900_73731901insC	AB006629	CCDS5569.1, CCDS5570.1	7q11.23	2008-06-12	2007-01-04	2007-01-04	ENSG00000106665	ENSG00000106665			2586	protein-coding gene	gene with protein product		603432	"""cytoplasmic linker 2"", ""Williams-Beuren syndrome chromosome region 3"""	WBSCR4, CYLN2, WBSCR3		8812460, 9799601	Standard	NM_003388		Approved	CLIP-115, KIAA0291, WSCR4, CLIP, WSCR3	uc003uam.3	Q9UDT6	OTTHUMG00000022980	ENST00000395060.1:c.30dupC	7.37:g.73731906_73731906dupC	ENSP00000378500:p.Pro9fs		Somatic				CLIP2_ENST00000361545.5_Frame_Shift_Ins_p.NP8fs|CLIP2_ENST00000395060.1_Frame_Shift_Ins_p.NP8fs	p.NP8fs	NM_003388.4	NP_003379.3	WXS	Illumina GAIIx	Phase_I	Q9UDT6	CLIP2_HUMAN			2	351_352	+			8					O14527|O43611	Frame_Shift_Ins	INS	ENST00000395060.1	37	c.24_25insC	CCDS5569.1																																																																																				0.668	CLIP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252556.1	NM_003388		7	319						7	319	---	---	---	---
STAG3L1	54441	broad.mit.edu	37	7	74991539	74991539	+	RNA	DEL	C	C	-	rs375690101		TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr7:74991539delC	ENST00000402225.5	+	0	434							P0CL83	ST3L1_HUMAN	stromal antigen 3-like 1 (pseudogene)							nucleus (GO:0005634)											AGAGCATGttctttttttttt	0.418																																						ENST00000402225.5																			0																																																			54441					nucleus	binding	g.chr7:74991539delC			7q11.23	2013-06-26	2013-06-26		ENSG00000205583	ENSG00000205583			33852	pseudogene	pseudogene			"""stromal antigen 3-like 1"""				Standard	NR_040583		Approved	DKFZP434A0131, STAG3L1P	uc022agf.1	P0CL83	OTTHUMG00000155940		7.37:g.74991539delC			Somatic								WXS	Illumina GAIIx	Phase_I	P0CL83	ST3L1_HUMAN			0	434	+								A6NMT8|A8K0A1|Q32NE4|Q6NXR2|Q7L5M5|Q7Z5K6	RNA	DEL	ENST00000402225.5	37																																																																																						0.418	STAG3L1-012	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000437242.1	NM_001002840		2	4						2	4	---	---	---	---
SPDYE3	441272	broad.mit.edu	37	7	99912173	99912174	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr7:99912173_99912174insC	ENST00000332397.6	+	6	1185_1186	c.1001_1002insC	c.(1000-1005)agccccfs	p.SP334fs	SPDYE3_ENST00000437326.2_5'UTR	NM_001004351.4	NP_001004351.3	A6NKU9	SPDE3_HUMAN	speedy/RINGO cell cycle regulator family member E3	334										endometrium(10)|kidney(1)|lung(8)|urinary_tract(1)	20						GTAGATCCCAGCCCCCCGCGTA	0.569																																						ENST00000332397.6																			0				endometrium(10)|kidney(1)|lung(8)|urinary_tract(1)	20						c.(1000-1002)accfs		speedy/RINGO cell cycle regulator family member E3																																				SO:0001589	frameshift_variant	441272							g.chr7:99912173_99912174insC	BC056606	CCDS47658.1, CCDS47658.2	7q22.1	2013-05-08	2013-05-08		ENSG00000214300	ENSG00000214300		"""Speedy homologs"""	35462	protein-coding gene	gene with protein product			"""speedy homolog E3 (Xenopus laevis)"""				Standard	NM_001004351		Approved		uc022aij.1	A6NKU9	OTTHUMG00000155462	ENST00000332397.6:c.1007dupC	7.37:g.99912179_99912179dupC	ENSP00000329565:p.Ser334fs		Somatic				SPDYE3_ENST00000437326.2_5'UTR	p.T334fs	NM_001004351.4	NP_001004351.3	WXS	Illumina GAIIx	Phase_I	A6NKU9	SPDE3_HUMAN			6	1185_1186	+			334					Q495Y9|Q6PHC4	Frame_Shift_Ins	INS	ENST00000332397.6	37	c.1001_1002insC	CCDS47658.2																																																																																				0.569	SPDYE3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000340224.2	NM_001004351		16	631						16	631	---	---	---	---
FBXO24	26261	broad.mit.edu	37	7	100187685	100187686	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr7:100187685_100187686insC	ENST00000241071.6	+	2	447_448	c.125_126insC	c.(124-129)ttccccfs	p.FP42fs	FBXO24_ENST00000427939.2_Frame_Shift_Ins_p.FP80fs|FBXO24_ENST00000360609.2_Frame_Shift_Ins_p.FP42fs|FBXO24_ENST00000468962.1_Frame_Shift_Ins_p.FP30fs|PCOLCE-AS1_ENST00000544873.1_RNA|FBXO24_ENST00000465843.1_Frame_Shift_Ins_p.FP42fs|PCOLCE-AS1_ENST00000442166.2_RNA|FBXO24_ENST00000498195.1_3'UTR	NM_033506.2	NP_277041.1	O75426	FBX24_HUMAN	F-box protein 24	42	F-box. {ECO:0000255|PROSITE- ProRule:PRU00080}.				protein ubiquitination (GO:0016567)	ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2)	28	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					ATCCAGTTGTTCCCCCCAGAGC	0.569																																						ENST00000241071.6																			0				NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2)	28						c.(124-126)tccfs		F-box protein 24																																				SO:0001589	frameshift_variant	26261					ubiquitin ligase complex	ubiquitin-protein ligase activity	g.chr7:100187685_100187686insC	AF174604	CCDS5698.1, CCDS5699.1, CCDS5699.2, CCDS55138.1	7q22	2005-10-07	2004-06-15		ENSG00000106336	ENSG00000106336		"""F-boxes /  ""other"""""	13595	protein-coding gene	gene with protein product		609097	"""F-box only protein 24"""			10531035, 10531037	Standard	NM_012172		Approved	FBX24	uc011kjz.1	O75426	OTTHUMG00000159543	ENST00000241071.6:c.131dupC	7.37:g.100187691_100187691dupC	ENSP00000241071:p.Phe42fs		Somatic				FBXO24_ENST00000360609.2_Frame_Shift_Ins_p.S42fs|FBXO24_ENST00000465843.1_Frame_Shift_Ins_p.S42fs|PCOLCE-AS1_ENST00000442166.2_RNA|FBXO24_ENST00000427939.2_Frame_Shift_Ins_p.S80fs|FBXO24_ENST00000498195.1_3'UTR|FBXO24_ENST00000468962.1_Frame_Shift_Ins_p.S30fs	p.S42fs	NM_033506.2	NP_277041.1	WXS	Illumina GAIIx	Phase_I	O75426	FBX24_HUMAN			2	447_448	+	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)		42			F-box.		A4D2D4|B4DX91|B4DY42|Q9H0G1	Frame_Shift_Ins	INS	ENST00000241071.6	37	c.125_126insC	CCDS5698.1																																																																																				0.569	FBXO24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356104.1			10	552						10	552	---	---	---	---
CPED1	79974	broad.mit.edu	37	7	120911387	120911388	+	Frame_Shift_Ins	INS	-	-	A	rs141494536	byFrequency	TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr7:120911387_120911388insA	ENST00000310396.5	+	22	3238_3239	c.2771_2772insA	c.(2770-2775)gcaaaafs	p.AK924fs		NM_024913.4	NP_079189.4	A4D0V7	CPED1_HUMAN	cadherin-like and PC-esterase domain containing 1	924						endoplasmic reticulum (GO:0005783)											CTGGATACTGCAAAAAAACATG	0.351																																						ENST00000310396.5																			0											c.(2770-2772)gaafs		cadherin-like and PC-esterase domain containing 1																																				SO:0001589	frameshift_variant	79974							g.chr7:120911387_120911388insA		CCDS34739.1, CCDS47690.1	7q31.31	2012-06-12	2012-06-12	2012-06-12	ENSG00000106034	ENSG00000106034			26159	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 58"""	C7orf58		20056006	Standard	NM_024913		Approved	FLJ21986	uc003vjq.4	A4D0V7	OTTHUMG00000156982	ENST00000310396.5:c.2778dupA	7.37:g.120911394_120911394dupA	ENSP00000309772:p.Ala924fs		Somatic					p.E924fs	NM_024913.4	NP_079189.4	WXS	Illumina GAIIx	Phase_I					22	3238_3239	+								A8K1R3|Q6UXT1|Q86T76|Q86T84|Q8N2T5|Q96NC9	Frame_Shift_Ins	INS	ENST00000310396.5	37	c.2771_2772insA	CCDS34739.1																																																																																				0.351	CPED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346959.1	NM_024913		7	413						7	413	---	---	---	---
CCDC136	64753	broad.mit.edu	37	7	128457829	128457830	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr7:128457829_128457830insC	ENST00000297788.4	+	17	3748_3749	c.3381_3382insC	c.(3382-3384)cccfs	p.P1128fs	CCDC136_ENST00000464832.1_Frame_Shift_Ins_p.P420fs|CCDC136_ENST00000487361.1_Frame_Shift_Ins_p.P489fs|CCDC136_ENST00000378685.4_Frame_Shift_Ins_p.P408fs|CCDC136_ENST00000471729.1_Intron	NM_022742.4	NP_073579	Q96JN2	CC136_HUMAN	coiled-coil domain containing 136	1128						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)	24						CTACCCCCAATCCCCCCATCTT	0.52																																						ENST00000297788.4																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)	24						c.(3379-3384)aaccccfs		coiled-coil domain containing 136																																				SO:0001589	frameshift_variant	64753					integral to membrane	protein binding	g.chr7:128457829_128457830insC		CCDS47704.1, CCDS56510.1	7q33	2007-08-01			ENSG00000128596	ENSG00000128596			22225	protein-coding gene	gene with protein product		611902				15112360	Standard	NM_022742		Approved	KIAA1793, NAG6, DKFZP434G156	uc003vnv.2	Q96JN2	OTTHUMG00000158310	ENST00000297788.4:c.3387dupC	7.37:g.128457835_128457835dupC	ENSP00000297788:p.Pro1128fs		Somatic				CCDC136_ENST00000378685.4_Frame_Shift_Ins_p.NP407fs|CCDC136_ENST00000471729.1_Intron|CCDC136_ENST00000487361.1_Frame_Shift_Ins_p.NP488fs|CCDC136_ENST00000464832.1_Frame_Shift_Ins_p.NP419fs	p.NP1127fs	NM_022742.4	NP_073579.4	WXS	Illumina GAIIx	Phase_I	Q96JN2	CC136_HUMAN			17	3748_3749	+			1127					A4D1K1|A7MCY7|A8MYA7|Q6ZVK7|Q9H8M3|Q9UFE1	Frame_Shift_Ins	INS	ENST00000297788.4	37	c.3381_3382insC	CCDS47704.1																																																																																				0.520	CCDC136-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000350641.1	NM_022742		7	960						7	960	---	---	---	---
CPA1	1357	broad.mit.edu	37	7	130023239	130023240	+	Frame_Shift_Ins	INS	-	-	G	rs369058363		TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr7:130023239_130023240insG	ENST00000011292.3	+	5	641_642	c.491_492insG	c.(490-495)acggggfs	p.TG164fs	CPA1_ENST00000484324.1_Frame_Shift_Ins_p.TG76fs	NM_001868.2	NP_001859.1	P15085	CBPA1_HUMAN	carboxypeptidase A1 (pancreatic)	164					proteolysis (GO:0006508)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)	21	Melanoma(18;0.0435)					CAGTTCAGCACGGGGGGCAGTA	0.614																																						ENST00000011292.3																			0				endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)	21						c.(490-492)aggfs		carboxypeptidase A1 (pancreatic)																																				SO:0001589	frameshift_variant	1357				proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding	g.chr7:130023239_130023240insG		CCDS5820.1	7q32	2012-02-10			ENSG00000091704	ENSG00000091704	3.4.17.1		2296	protein-coding gene	gene with protein product	"""pancreatic carboxypeptidase A"""	114850		CPA			Standard	NM_001868		Approved		uc003vpx.3	P15085	OTTHUMG00000157826	ENST00000011292.3:c.497dupG	7.37:g.130023245_130023245dupG	ENSP00000011292:p.Thr164fs		Somatic				CPA1_ENST00000484324.1_Frame_Shift_Ins_p.R76fs	p.R164fs	NM_001868.2	NP_001859.1	WXS	Illumina GAIIx	Phase_I	P15085	CBPA1_HUMAN			5	641_642	+	Melanoma(18;0.0435)		164					A4D1M1|Q53XU0|Q9BS67|Q9UCF2	Frame_Shift_Ins	INS	ENST00000011292.3	37	c.491_492insG	CCDS5820.1																																																																																				0.614	CPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349736.2	NM_001868		8	215						8	215	---	---	---	---
KDM7A	80853	broad.mit.edu	37	7	139820279	139820280	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr7:139820279_139820280insC	ENST00000397560.2	-	8	1198_1199	c.1101_1102insG	c.(1099-1104)gggaacfs	p.N368fs	JHDM1D_ENST00000006967.5_Frame_Shift_Ins_p.N368fs	NM_030647.1	NP_085150.1	Q6ZMT4	KDM7A_HUMAN		368	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				histone H3-K27 demethylation (GO:0071557)|histone H3-K36 demethylation (GO:0070544)|histone H3-K9 demethylation (GO:0033169)|histone H4-K20 demethylation (GO:0035574)|midbrain development (GO:0030901)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleus (GO:0005634)	histone demethylase activity (H3-K27 specific) (GO:0071558)|histone demethylase activity (H3-K36 specific) (GO:0051864)|histone demethylase activity (H3-K9 specific) (GO:0032454)|histone demethylase activity (H4-K20 specific) (GO:0035575)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)	22	Melanoma(164;0.0142)					TGCAGGAAGTTCCCCCCAAAAG	0.356																																						ENST00000397560.2																			0				central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)	22						c.(1099-1104)ggacttfs																																						SO:0001589	frameshift_variant	80853				midbrain development|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	g.chr7:139820279_139820280insC																												ENST00000397560.2:c.1102dupG	7.37:g.139820285_139820285dupC	ENSP00000380692:p.Asn368fs		Somatic				JHDM1D_ENST00000006967.5_Frame_Shift_Ins_p.L368fs	p.L368fs	NM_030647.1	NP_085150.1	WXS	Illumina GAIIx	Phase_I	Q6ZMT4	KDM7_HUMAN			8	1198_1199	-	Melanoma(164;0.0142)		368			JmjC.		A4D1S9|C9JJH9|C9JQU2|Q6MZL8|Q9C0E5	Frame_Shift_Ins	INS	ENST00000397560.2	37	c.1101_1102insG	CCDS43658.1																																																																																				0.356	JHDM1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348460.1			8	227						8	227	---	---	---	---
TRBV4-2	28616	broad.mit.edu	37	7	142045511	142045512	+	RNA	INS	-	-	C	rs574092449|rs372744309	byFrequency	TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr7:142045511_142045512insC	ENST00000390392.3	+	0	160									T cell receptor beta variable 4-2																		TTTGTCCCTTTCCCCCCGCAGT	0.485																																						ENST00000390392.3																			0																																																			28616							g.chr7:142045511_142045512insC	U07975		7q34	2012-02-07			ENSG00000211745	ENSG00000211745		"""T cell receptors / TRB locus"""	12216	other	T cell receptor gene						8650574	Standard	NG_001333		Approved	TRBV42, TCRBV4S2, TCRBV7S3A2T			OTTHUMG00000158525		7.37:g.142045517_142045517dupC			Somatic								WXS	Illumina GAIIx	Phase_I					0	160	+									RNA	INS	ENST00000390392.3	37																																																																																						0.485	TRBV4-2-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000351231.1	NG_001333		7	669						7	669	---	---	---	---
BNC2	54796	broad.mit.edu	37	9	16436374	16436375	+	Frame_Shift_Ins	INS	-	-	G	rs116528562|rs142872531	byFrequency	TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr9:16436374_16436375insG	ENST00000380672.4	-	6	1874_1875	c.1817_1818insC	c.(1816-1818)ccgfs	p.P606fs	BNC2_ENST00000545497.1_Frame_Shift_Ins_p.P511fs|BNC2_ENST00000380666.2_Frame_Shift_Ins_p.P606fs|BNC2_ENST00000380667.2_Frame_Shift_Ins_p.P539fs	NM_017637.5	NP_060107.3			basonuclin 2											NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		CAGAGGGTGGCGGGGGGTGCTG	0.564																																						ENST00000380672.4																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60						c.(1816-1818)cccfs		basonuclin 2																																				SO:0001589	frameshift_variant	54796				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding	g.chr9:16436374_16436375insG	AK092247	CCDS6482.2	9p22.2	2013-05-20			ENSG00000173068	ENSG00000173068		"""Zinc fingers, C2H2-type"""	30988	protein-coding gene	gene with protein product		608669				14702039	Standard	XM_006716784		Approved	BSN2, FLJ20043	uc003zml.3	Q6ZN30	OTTHUMG00000019593	ENST00000380672.4:c.1818dupC	9.37:g.16436380_16436380dupG	ENSP00000370047:p.Pro606fs		Somatic				BNC2_ENST00000380667.2_Frame_Shift_Ins_p.P539fs|BNC2_ENST00000380666.2_Frame_Shift_Ins_p.P606fs|BNC2_ENST00000545497.1_Frame_Shift_Ins_p.P511fs	p.P606fs	NM_017637.5	NP_060107.3	WXS	Illumina GAIIx	Phase_I	Q6ZN30	BNC2_HUMAN		GBM - Glioblastoma multiforme(50;9.01e-08)	6	1874_1875	-			606			Pro-rich.			Frame_Shift_Ins	INS	ENST00000380672.4	37	c.1817_1818insC	CCDS6482.2																																																																																				0.564	BNC2-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216901.5	NM_017637		11	380						11	380	---	---	---	---
RECK	8434	broad.mit.edu	37	9	36112460	36112461	+	Frame_Shift_Ins	INS	-	-	A			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr9:36112460_36112461insA	ENST00000377966.3	+	16	2613_2614	c.2047_2048insA	c.(2047-2049)caafs	p.Q683fs		NM_021111.2	NP_066934.1	O95980	RECK_HUMAN	reversion-inducing-cysteine-rich protein with kazal motifs	683					blood vessel maturation (GO:0001955)|embryo implantation (GO:0007566)|extracellular matrix organization (GO:0030198)|negative regulation of endopeptidase activity (GO:0010951)	anchored component of membrane (GO:0031225)|membrane (GO:0016020)|plasma membrane (GO:0005886)	endopeptidase inhibitor activity (GO:0004866)|metalloendopeptidase inhibitor activity (GO:0008191)|serine-type endopeptidase inhibitor activity (GO:0004867)			cervix(1)|endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)			TAATCCCTGCCAAAAAAACCAA	0.416																																						ENST00000377966.3																			0				cervix(1)|endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	32						c.(2047-2049)aaafs		reversion-inducing-cysteine-rich protein with kazal motifs																																				SO:0001589	frameshift_variant	8434					anchored to membrane|peripheral to membrane of membrane fraction|plasma membrane	metalloendopeptidase inhibitor activity|serine-type endopeptidase inhibitor activity	g.chr9:36112460_36112461insA	E13833	CCDS6597.1	9p13.3	2008-05-15			ENSG00000122707	ENSG00000122707			11345	protein-coding gene	gene with protein product		605227		ST15		9789069	Standard	NM_021111		Approved	hRECK	uc003zyv.3	O95980	OTTHUMG00000019898	ENST00000377966.3:c.2054dupA	9.37:g.36112467_36112467dupA	ENSP00000367202:p.Gln683fs		Somatic					p.K683fs	NM_021111.2	NP_066934.1	WXS	Illumina GAIIx	Phase_I	O95980	RECK_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)		16	2613_2614	+			683					B2RNS1|Q5W0K6|Q8WX37	Frame_Shift_Ins	INS	ENST00000377966.3	37	c.2047_2048insA	CCDS6597.1																																																																																				0.416	RECK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052409.1			32	1621						32	1621	---	---	---	---
ABCA1	19	broad.mit.edu	37	9	107593322	107593323	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr9:107593322_107593323insC	ENST00000374736.3	-	14	2169_2170	c.1775_1776insG	c.(1774-1776)ggcfs	p.G592fs	ABCA1_ENST00000494467.1_5'Flank	NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	592					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|endosomal transport (GO:0016197)|G-protein coupled receptor signaling pathway (GO:0007186)|high-density lipoprotein particle assembly (GO:0034380)|interleukin-1 beta secretion (GO:0050702)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|lysosome organization (GO:0007040)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|peptide secretion (GO:0002790)|phagocytosis, engulfment (GO:0006911)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|phospholipid translocation (GO:0045332)|platelet dense granule organization (GO:0060155)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cholesterol efflux (GO:0010875)|protein lipidation (GO:0006497)|regulation of Cdc42 protein signal transduction (GO:0032489)|response to drug (GO:0042493)|response to laminar fluid shear stress (GO:0034616)|response to low-density lipoprotein particle (GO:0055098)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)	endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein A-I receptor activity (GO:0034188)|apolipoprotein binding (GO:0034185)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase binding (GO:0051117)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|receptor binding (GO:0005102)|small GTPase binding (GO:0031267)|syntaxin binding (GO:0019905)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glyburide(DB01016)|Probucol(DB01599)	AGTAGGCGAAGCCCCCCCAGAC	0.54																																						ENST00000374736.3																			0				NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115						c.(1774-1776)gttfs		ATP-binding cassette, sub-family A (ABC1), member 1	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)																																			SO:0001589	frameshift_variant	19				Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding	g.chr9:107593322_107593323insC	AJ012376	CCDS6762.1	9q31	2014-03-14			ENSG00000165029	ENSG00000165029		"""ATP binding cassette transporters / subfamily A"""	29	protein-coding gene	gene with protein product	"""Tangier disease"""	600046		ABC1, HDLDT1		8088782, 10431236, 10431237, 10431238	Standard	NM_005502		Approved	TGD	uc004bcl.3	O95477	OTTHUMG00000020417	ENST00000374736.3:c.1776dupG	9.37:g.107593329_107593329dupC	ENSP00000363868:p.Gly592fs		Somatic					p.V592fs	NM_005502.3	NP_005493.2	WXS	Illumina GAIIx	Phase_I	O95477	ABCA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;0.023)	14	2169_2170	-			592					Q5VX33|Q96S56|Q96T85|Q9NQV4|Q9UN06|Q9UN07|Q9UN08|Q9UN09	Frame_Shift_Ins	INS	ENST00000374736.3	37	c.1775_1776insG	CCDS6762.1																																																																																				0.540	ABCA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053491.1	NM_005502		8	148						8	148	---	---	---	---
ZNF462	58499	broad.mit.edu	37	9	109691601	109691602	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr9:109691601_109691602insG	ENST00000277225.5	+	3	5697_5698	c.5408_5409insG	c.(5407-5412)ttggggfs	p.LG1803fs	ZNF462_ENST00000441147.2_Frame_Shift_Ins_p.LG648fs|ZNF462_ENST00000457913.1_Frame_Shift_Ins_p.LG1803fs			Q96JM2	ZN462_HUMAN	zinc finger protein 462	1803					chromatin organization (GO:0006325)|negative regulation of DNA binding (GO:0043392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						GCCAGCAAGTTGGGGGGCTACT	0.55																																						ENST00000277225.5																			0				NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						c.(5407-5409)tggfs		zinc finger protein 462																																				SO:0001589	frameshift_variant	58499				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:109691601_109691602insG	AB058706	CCDS35096.1	9q31.3	2008-02-05			ENSG00000148143	ENSG00000148143		"""Zinc fingers, C2H2-type"""	21684	protein-coding gene	gene with protein product							Standard	NM_021224		Approved	DKFZP762N2316, KIAA1803, Zfp462	uc004bcz.3	Q96JM2	OTTHUMG00000020438	ENST00000277225.5:c.5414dupG	9.37:g.109691607_109691607dupG	ENSP00000277225:p.Leu1803fs		Somatic				ZNF462_ENST00000457913.1_Frame_Shift_Ins_p.W1803fs|ZNF462_ENST00000441147.2_Frame_Shift_Ins_p.W648fs	p.W1803fs			WXS	Illumina GAIIx	Phase_I	Q96JM2	ZN462_HUMAN			3	5697_5698	+			1803					Q5T0T4|Q8N408	Frame_Shift_Ins	INS	ENST00000277225.5	37	c.5408_5409insG	CCDS35096.1																																																																																				0.550	ZNF462-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053532.2	NM_021224		8	173						8	173	---	---	---	---
TNC	3371	broad.mit.edu	37	9	117797538	117797539	+	Frame_Shift_Ins	INS	-	-	G	rs530735519|rs148674204	byFrequency	TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr9:117797538_117797539insG	ENST00000350763.4	-	22	6142_6143	c.5731_5732insC	c.(5731-5733)cggfs	p.R1911fs	TNC_ENST00000423613.2_Frame_Shift_Ins_p.R1638fs|TNC_ENST00000542877.1_Frame_Shift_Ins_p.R1548fs|TNC_ENST00000340094.3_Frame_Shift_Ins_p.R1547fs|TNC_ENST00000535648.1_Frame_Shift_Ins_p.R1456fs|TNC_ENST00000537320.1_Frame_Shift_Ins_p.R1274fs|TNC_ENST00000345230.3_Frame_Shift_Ins_p.R1274fs|TNC_ENST00000341037.4_Frame_Shift_Ins_p.R1729fs|TNC_ENST00000346706.3_Frame_Shift_Ins_p.R1365fs	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	1911	Fibronectin type-III 15. {ECO:0000255|PROSITE-ProRule:PRU00316}.				bud outgrowth involved in lung branching (GO:0060447)|cell adhesion (GO:0007155)|cellular response to prostaglandin D stimulus (GO:0071799)|cellular response to retinoic acid (GO:0071300)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|mesenchymal-epithelial cell signaling involved in prostate gland development (GO:0060739)|negative regulation of cell adhesion (GO:0007162)|neuromuscular junction development (GO:0007528)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|prostate gland epithelium morphogenesis (GO:0060740)|response to ethanol (GO:0045471)|response to fibroblast growth factor (GO:0071774)|response to mechanical stimulus (GO:0009612)|response to wounding (GO:0009611)|wound healing (GO:0042060)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	syndecan binding (GO:0045545)			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						GACTGATGCCCGGGGGGGTCGC	0.475																																						ENST00000350763.4																			0				NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						c.(5731-5733)ggcfs		tenascin C																																				SO:0001589	frameshift_variant	3371				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding	g.chr9:117797538_117797539insG		CCDS6811.1	9q33.1	2014-01-28	2008-07-31	2002-06-07	ENSG00000041982	ENSG00000041982		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	5318	protein-coding gene	gene with protein product	"""hexabrachion (tenascin)"""	187380	"""hexabrachion (tenascin C, cytotactin)"", ""deafness, autosomal dominant 56"""	HXB, DFNA56		1704365, 1707164, 23936043	Standard	NM_002160		Approved	TN, MGC167029	uc004bjj.4	P24821	OTTHUMG00000021010	ENST00000350763.4:c.5732dupC	9.37:g.117797545_117797545dupG	ENSP00000265131:p.Arg1911fs		Somatic				TNC_ENST00000346706.3_Frame_Shift_Ins_p.G1365fs|TNC_ENST00000537320.1_Frame_Shift_Ins_p.G1274fs|TNC_ENST00000340094.3_Frame_Shift_Ins_p.G1547fs|TNC_ENST00000341037.4_Frame_Shift_Ins_p.G1729fs|TNC_ENST00000535648.1_Frame_Shift_Ins_p.G1456fs|TNC_ENST00000423613.2_Frame_Shift_Ins_p.G1638fs|TNC_ENST00000345230.3_Frame_Shift_Ins_p.G1274fs|TNC_ENST00000542877.1_Frame_Shift_Ins_p.G1548fs	p.G1911fs	NM_002160.3	NP_002151.2	WXS	Illumina GAIIx	Phase_I	P24821	TENA_HUMAN			22	6142_6143	-			1911			Fibronectin type-III 15.		C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	Frame_Shift_Ins	INS	ENST00000350763.4	37	c.5731_5732insC	CCDS6811.1																																																																																				0.475	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055418.2	NM_002160		12	274						12	274	---	---	---	---
SEC16A	9919	broad.mit.edu	37	9	139345822	139345823	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr9:139345822_139345823insG	ENST00000371706.3	-	21	5696_5697	c.5663_5664insC	c.(5662-5664)ccafs	p.P1888fs	SEC16A_ENST00000313084.5_5'Flank|SEC16A_ENST00000290037.6_Frame_Shift_Ins_p.P1888fs|SEC16A_ENST00000313050.7_Frame_Shift_Ins_p.P2066fs|SEC16A_ENST00000398335.1_5'Flank|SEC16A_ENST00000431893.2_Frame_Shift_Ins_p.P1888fs			O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	1888	Pro-rich.				COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|protein transport (GO:0015031)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		GATCCCACCCTGGGGGGGCCTC	0.629																																						ENST00000313050.7																			0				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(6196-6198)cggfs		SEC16 homolog A (S. cerevisiae)																																				SO:0001589	frameshift_variant	9919				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane		g.chr9:139345822_139345823insG	AK074565	CCDS55351.1, CCDS75936.1	9q34.3	2007-06-20	2007-06-20	2007-06-20	ENSG00000148396	ENSG00000148396			29006	protein-coding gene	gene with protein product		612854	"""KIAA0310"""	KIAA0310		9205841	Standard	NM_014866		Approved	p250	uc004chx.3	O15027	OTTHUMG00000020932	ENST00000371706.3:c.5664dupC	9.37:g.139345829_139345829dupG	ENSP00000360771:p.Pro1888fs		Somatic				SEC16A_ENST00000371706.3_Frame_Shift_Ins_p.R1888fs|SEC16A_ENST00000431893.2_Frame_Shift_Ins_p.R1888fs|SEC16A_ENST00000290037.6_Frame_Shift_Ins_p.R1888fs	p.R2066fs	NM_014866.1	NP_055681.1	WXS	Illumina GAIIx	Phase_I	O15027	SC16A_HUMAN		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)	21	6270_6271	-		Myeloproliferative disorder(178;0.0511)	1888			Pro-rich.|Required for interaction with SEC23A.		A1YCA4|Q4G0D7|Q5SXP0|Q5SXP1|Q8N347|Q96HP1	Frame_Shift_Ins	INS	ENST00000371706.3	37	c.6197_6198insC																																																																																					0.629	SEC16A-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000055077.1	XM_088459		7	32						7	32	---	---	---	---
FAM171A1	221061	broad.mit.edu	37	10	15262984	15262985	+	Frame_Shift_Ins	INS	-	-	G	rs554506784		TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr10:15262984_15262985insG	ENST00000378116.4	-	6	835_836	c.829_830insC	c.(829-831)cagfs	p.Q277fs	FAM171A1_ENST00000477161.1_5'UTR	NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	277						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						GTACCCCAACTGGGGGGCAATG	0.564																																						ENST00000378116.4																			0				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						c.(829-831)gttfs		family with sequence similarity 171, member A1																																				SO:0001589	frameshift_variant	221061					integral to membrane		g.chr10:15262984_15262985insG	AK022946	CCDS31154.1	10p13	2008-06-16	2008-06-16	2008-06-16	ENSG00000148468	ENSG00000148468			23522	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 38"""	C10orf38			Standard	NM_001010924		Approved	FLJ12884	uc001iob.3	Q5VUB5	OTTHUMG00000017732	ENST00000378116.4:c.830dupC	10.37:g.15262990_15262990dupG	ENSP00000367356:p.Gln277fs		Somatic				FAM171A1_ENST00000477161.1_5'UTR	p.V277fs	NM_001010924.1	NP_001010924.1	WXS	Illumina GAIIx	Phase_I	Q5VUB5	F1711_HUMAN			6	835_836	-			277					D3DRT9|Q32M49|Q8N4I0	Frame_Shift_Ins	INS	ENST00000378116.4	37	c.829_830insC	CCDS31154.1																																																																																				0.564	FAM171A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046984.1	XM_167709		7	310						7	310	---	---	---	---
CUBN	8029	broad.mit.edu	37	10	16877089	16877090	+	Frame_Shift_Ins	INS	-	-	G	rs577492421		TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr10:16877089_16877090insG	ENST00000377833.4	-	64	10350_10351	c.10285_10286insC	c.(10285-10287)cagfs	p.Q3429fs		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	3429	CUB 26. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GGTGTGGTTCTGGGGGGCTGTG	0.45																																						ENST00000377833.4																			0				breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241						c.(10285-10287)gaafs		cubilin (intrinsic factor-cobalamin receptor)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)																																			SO:0001589	frameshift_variant	8029				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	g.chr10:16877089_16877090insG	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.10286dupC	10.37:g.16877095_16877095dupG	ENSP00000367064:p.Gln3429fs		Somatic					p.E3429fs	NM_001081.3	NP_001072.2	WXS	Illumina GAIIx	Phase_I	O60494	CUBN_HUMAN			64	10350_10351	-			3429			CUB 26.		B0YIZ4|Q5VTA6|Q96RU9	Frame_Shift_Ins	INS	ENST00000377833.4	37	c.10285_10286insC	CCDS7113.1																																																																																				0.450	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		7	326						7	326	---	---	---	---
MKX	283078	broad.mit.edu	37	10	28023574	28023575	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr10:28023574_28023575insG	ENST00000375790.5	-	5	1080_1081	c.648_649insC	c.(646-651)cccaaafs	p.K217fs	MKX_ENST00000419761.1_Frame_Shift_Ins_p.K217fs			Q8IYA7	MKX_HUMAN	mohawk homeobox	217					collagen fibril organization (GO:0030199)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|positive regulation of collagen biosynthetic process (GO:0032967)|tendon cell differentiation (GO:0035990)|tendon sheath development (GO:0002932)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.P216P(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16						CTCTTGTATTTGGGGGGTGCCA	0.485																																						ENST00000375790.5																			1	Substitution - coding silent(1)	p.P216P(1)	haematopoietic_and_lymphoid_tissue(1)	NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16						c.(646-651)ccaatafs		mohawk homeobox																																				SO:0001589	frameshift_variant	283078				muscle organ development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:28023574_28023575insG	BC036207	CCDS7156.1	10p12.1	2011-06-20	2006-03-31	2006-03-31	ENSG00000150051	ENSG00000150051		"""Homeoboxes / TALE class"""	23729	protein-coding gene	gene with protein product		601332	"""chromosome 10 open reading frame 48"", ""iroquois homeobox protein-like 1"""	C10orf48, IRXL1		16408284	Standard	NM_173576		Approved	MGC39616	uc001itx.4	Q8IYA7	OTTHUMG00000017862	ENST00000375790.5:c.649dupC	10.37:g.28023580_28023580dupG	ENSP00000364946:p.Lys217fs		Somatic				MKX_ENST00000419761.1_Frame_Shift_Ins_p.I217fs	p.I217fs			WXS	Illumina GAIIx	Phase_I	Q8IYA7	MKX_HUMAN			5	1080_1081	-			217					B3KWM5	Frame_Shift_Ins	INS	ENST00000375790.5	37	c.648_649insC	CCDS7156.1																																																																																				0.485	MKX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047332.3	NM_173576		12	403						12	403	---	---	---	---
ZEB1	6935	broad.mit.edu	37	10	31809832	31809833	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr10:31809832_31809833insG	ENST00000320985.10	+	7	1679_1680	c.1569_1570insG	c.(1570-1572)gggfs	p.G524fs	ZEB1_ENST00000361642.5_Frame_Shift_Ins_p.G525fs|ZEB1_ENST00000559858.1_3'UTR|ZEB1_ENST00000446923.2_Frame_Shift_Ins_p.G508fs|ZEB1_ENST00000560721.2_Frame_Shift_Ins_p.G504fs|ZEB1_ENST00000542815.3_Frame_Shift_Ins_p.G457fs			P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	524					cartilage development (GO:0051216)|cell proliferation (GO:0008283)|cellular response to amino acid stimulus (GO:0071230)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cochlea morphogenesis (GO:0090103)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain development (GO:0030900)|immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pattern specification process (GO:0007389)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of mesenchymal cell proliferation (GO:0010464)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of T cell differentiation in thymus (GO:0033081)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|response to activity (GO:0014823)|response to nutrient levels (GO:0031667)|semicircular canal morphogenesis (GO:0048752)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|E-box binding (GO:0070888)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				AAAGCTTTGAAGGGGGGGTGAA	0.371																																					Ovarian(40;423 959 14296 36701 49589)	ENST00000446923.2																			0				NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77	GRCh37	CD075582	ZEB1	D	rs35708848	c.(1519-1524)gaggggfs		zinc finger E-box binding homeobox 1																																				SO:0001589	frameshift_variant	6935				cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	g.chr10:31809832_31809833insG	AK091478	CCDS7169.1, CCDS44370.1, CCDS53505.1, CCDS53506.1, CCDS53507.1	10p11.22	2014-02-14	2007-02-15	2007-02-15	ENSG00000148516	ENSG00000148516		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	11642	protein-coding gene	gene with protein product		189909	"""transcription factor 8 (represses interleukin 2 expression)"", ""posterior polymorphous corneal dystrophy 3"""	TCF8, PPCD3		1427828, 1840704, 15384081, 16252232	Standard	NM_001128128		Approved	BZP, ZEB, AREB6, NIL-2-A, Zfhep, Zfhx1a, FECD6	uc001ivu.4	P37275	OTTHUMG00000017907	ENST00000320985.10:c.1576dupG	10.37:g.31809839_31809839dupG	ENSP00000319248:p.Gly524fs		Somatic				ZEB1_ENST00000361642.5_Frame_Shift_Ins_p.EG524fs|ZEB1_ENST00000560721.2_Frame_Shift_Ins_p.EG503fs|ZEB1_ENST00000542815.3_Frame_Shift_Ins_p.EG456fs|ZEB1_ENST00000320985.10_Frame_Shift_Ins_p.EG523fs|ZEB1_ENST00000559858.1_3'UTR	p.EG507fs	NM_001128128.2|NM_001174094.1	NP_001121600.1|NP_001167565.1	WXS	Illumina GAIIx	Phase_I	P37275	ZEB1_HUMAN			7	1912_1913	+		Prostate(175;0.0156)	523					B4DJV0|B4DUW9|E9PCM7|F5H4I8|Q12924|Q13800|Q2KJ05|Q5T968|Q5VZ84|Q8NB68	Frame_Shift_Ins	INS	ENST00000320985.10	37	c.1521_1522insG	CCDS7169.1																																																																																				0.371	ZEB1-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000419083.2	NM_030751		12	382						12	382	---	---	---	---
FAM21EP	100421577	broad.mit.edu	37	10	51820739	51820740	+	RNA	INS	-	-	G			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr10:51820739_51820740insG	ENST00000456967.1	-	0	1397					NR_038275.1																						TTGCCAATCCTGGGGGGCTTCC	0.485																																						ENST00000456967.1																			0																																																			100421577							g.chr10:51820739_51820740insG																													10.37:g.51820745_51820745dupG			Somatic						NR_038275.1		WXS	Illumina GAIIx	Phase_I					0	1397	-									RNA	INS	ENST00000456967.1	37																																																																																						0.485	RP11-324H6.5-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000048059.1			11	616						11	616	---	---	---	---
FAM21EP	100421577	broad.mit.edu	37	10	51821327	51821328	+	RNA	INS	-	-	G			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr10:51821327_51821328insG	ENST00000456967.1	-	0	1306_1307					NR_038275.1																						TCGGTCAGCTTGGGGGGTGCGA	0.52																																						ENST00000456967.1																			0																																																			100421577							g.chr10:51821327_51821328insG																													10.37:g.51821333_51821333dupG			Somatic						NR_038275.1		WXS	Illumina GAIIx	Phase_I					0	1306_1307	-									RNA	INS	ENST00000456967.1	37																																																																																						0.520	RP11-324H6.5-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000048059.1			11	554						11	554	---	---	---	---
SEC24C	9632	broad.mit.edu	37	10	75525559	75525560	+	Splice_Site	INS	-	-	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr10:75525559_75525560insC	ENST00000339365.2	+	11	1530_1531	c.1368_1369insC	c.(1369-1371)ccc>Cccc	p.P457fs	SEC24C_ENST00000411652.2_Splice_Site_p.P338fs|SEC24C_ENST00000345254.4_Splice_Site_p.P457fs|SEC24C_ENST00000540668.1_Intron|SEC24C_ENST00000535742.1_Intron|SEC24C_ENST00000546025.1_Intron	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN	SEC24 family member C	457					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)	zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Prostate(51;0.0112)					TTCCCACAGTTCCCCCCCAGTA	0.51																																						ENST00000339365.2																			0				breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32						c.e11-1		SEC24 family member C																																				SO:0001630	splice_region_variant	9632				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|zinc ion binding	g.chr10:75525559_75525560insC	D38555	CCDS7332.1	10q22	2013-10-21	2013-10-21		ENSG00000176986	ENSG00000176986			10705	protein-coding gene	gene with protein product		607185	"""SEC24 (S. cerevisiae) related gene family, member C"", ""SEC24 family, member C (S. cerevisiae)"""			10214955, 7584044	Standard	NM_004922		Approved	KIAA0079	uc001jux.3	P53992	OTTHUMG00000018476	ENST00000339365.2:c.1367-1->C	10.37:g.75525566_75525566dupC			Somatic				SEC24C_ENST00000411652.2_Splice_Site_p.VP337_splice|SEC24C_ENST00000345254.4_Splice_Site_p.VP456_splice|SEC24C_ENST00000546025.1_Intron|SEC24C_ENST00000540668.1_Intron|SEC24C_ENST00000535742.1_Intron	p.VP456_splice	NM_004922.3	NP_004913.2	WXS	Illumina GAIIx	Phase_I	P53992	SC24C_HUMAN			11	1530_1531	+	Prostate(51;0.0112)		456					B4DZT4|Q8WV25	Splice_Site	INS	ENST00000339365.2	37	c.1366_splice	CCDS7332.1																																																																																				0.510	SEC24C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048679.1		Frame_Shift_Ins	41	695						41	695	---	---	---	---
HECTD2	143279	broad.mit.edu	37	10	93272060	93272061	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr10:93272060_93272061insC	ENST00000298068.5	+	21	2344_2345	c.2250_2251insC	c.(2251-2253)cccfs	p.P751fs	HECTD2_ENST00000371667.1_Frame_Shift_Ins_p.P401fs|HECTD2_ENST00000446394.1_Frame_Shift_Ins_p.P755fs|HECTD2_ENST00000536715.1_Frame_Shift_Ins_p.P340fs	NM_182765.3	NP_877497	Q5U5R9	HECD2_HUMAN	HECT domain containing E3 ubiquitin protein ligase 2	751	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|endometrium(2)|kidney(4)|large_intestine(10)|lung(7)|skin(1)|urinary_tract(1)	27						AACTTTGCCTTCCCCCCTACAA	0.356																																					NSCLC(12;376 469 1699 39910 41417)	ENST00000446394.1																			0				breast(2)|endometrium(2)|kidney(4)|large_intestine(10)|lung(7)|skin(1)|urinary_tract(1)	27						c.(2260-2265)ctccccfs		HECT domain containing E3 ubiquitin protein ligase 2																																				SO:0001589	frameshift_variant	143279				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity	g.chr10:93272060_93272061insC	AK094625	CCDS7414.1, CCDS7415.1, CCDS60591.1	10q23.32	2013-09-20	2012-02-23		ENSG00000165338	ENSG00000165338			26736	protein-coding gene	gene with protein product			"""HECT domain containing 2"""			8619474, 9110174	Standard	NM_001284274		Approved	FLJ37306	uc001khl.2	Q5U5R9	OTTHUMG00000018742	ENST00000298068.5:c.2256dupC	10.37:g.93272066_93272066dupC	ENSP00000298068:p.Pro751fs		Somatic				HECTD2_ENST00000371667.1_Frame_Shift_Ins_p.LP400fs|HECTD2_ENST00000536715.1_Frame_Shift_Ins_p.LP339fs|HECTD2_ENST00000298068.5_Frame_Shift_Ins_p.LP750fs	p.LP754fs			WXS	Illumina GAIIx	Phase_I	Q5U5R9	HECD2_HUMAN			22	2362_2363	+			750			HECT.		Q5VZ97|Q5VZ98|Q5VZ99|Q8N1X7|Q8TCP5	Frame_Shift_Ins	INS	ENST00000298068.5	37	c.2262_2263insC	CCDS7414.1																																																																																				0.356	HECTD2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098620.1			8	519						8	519	---	---	---	---
TLL2	7093	broad.mit.edu	37	10	98164994	98164995	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr10:98164994_98164995insG	ENST00000357947.3	-	10	1486_1487	c.1261_1262insC	c.(1261-1263)cttfs	p.L421fs	TLL2_ENST00000469598.1_5'UTR	NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	421	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		CTTACCCAAAAGGGGGGCTTTT	0.48																																						ENST00000357947.3																			0				NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58						c.(1261-1263)tttfs		tolloid-like 2																																				SO:0001589	frameshift_variant	7093				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr10:98164994_98164995insG	AF059516	CCDS7449.1	10q23-q24	2008-07-29			ENSG00000095587	ENSG00000095587			11844	protein-coding gene	gene with protein product		606743				10516436	Standard	NM_012465		Approved		uc001kml.2	Q9Y6L7	OTTHUMG00000018833	ENST00000357947.3:c.1262dupC	10.37:g.98165000_98165000dupG	ENSP00000350630:p.Leu421fs		Somatic				TLL2_ENST00000469598.1_5'UTR	p.F421fs	NM_012465.3	NP_036597.1	WXS	Illumina GAIIx	Phase_I	Q9Y6L7	TLL2_HUMAN		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)	10	1486_1487	-		Colorectal(252;0.0846)	421			CUB 1.		A6NDK0|Q2M1H1|Q6PJN5|Q9UQ00	Frame_Shift_Ins	INS	ENST00000357947.3	37	c.1261_1262insC	CCDS7449.1																																																																																				0.480	TLL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049608.1			8	511						8	511	---	---	---	---
CPN1	1369	broad.mit.edu	37	10	101816832	101816833	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr10:101816832_101816833insG	ENST00000370418.3	-	6	1199_1200	c.948_949insC	c.(946-951)cccgaafs	p.E317fs		NM_001308.2	NP_001299.1	P15169	CBPN_HUMAN	carboxypeptidase N, polypeptide 1	317	Catalytic.				response to glucocorticoid (GO:0051384)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	33		Colorectal(252;0.234)		Epithelial(162;4.77e-10)|all cancers(201;3.82e-08)		AACTCCTCTTCGGGGGGAAACT	0.47																																						ENST00000370418.3																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	33						c.(946-951)ccaagafs		carboxypeptidase N, polypeptide 1																																				SO:0001589	frameshift_variant	1369				proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding	g.chr10:101816832_101816833insG	X14329	CCDS7486.1	10q24.2	2012-02-10	2007-02-23		ENSG00000120054	ENSG00000120054	3.4.17.3		2312	protein-coding gene	gene with protein product	"""anaphylatoxin inactivator"", ""arginine carboxypeptidase"", ""carboxypeptidase K"", ""kininase I"", ""lysine carboxypeptidase"""	603103	"""carboxypeptidase N, polypeptide 1, 50kD"""			9628828, 2912725	Standard	NM_001308		Approved		uc001kql.2	P15169	OTTHUMG00000018896	ENST00000370418.3:c.949dupC	10.37:g.101816838_101816838dupG	ENSP00000359446:p.Glu317fs		Somatic					p.R317fs	NM_001308.2	NP_001299.1	WXS	Illumina GAIIx	Phase_I	P15169	CBPN_HUMAN		Epithelial(162;4.77e-10)|all cancers(201;3.82e-08)	6	1199_1200	-		Colorectal(252;0.234)	317			Catalytic.		B1AP59	Frame_Shift_Ins	INS	ENST00000370418.3	37	c.948_949insC	CCDS7486.1																																																																																				0.470	CPN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049828.1	NM_001308		23	937						23	937	---	---	---	---
SEC31B	25956	broad.mit.edu	37	10	102265153	102265154	+	Frame_Shift_Ins	INS	-	-	G	rs372919677		TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr10:102265153_102265154insG	ENST00000370345.3	-	10	1240_1241	c.1143_1144insC	c.(1141-1146)cccaaafs	p.K382fs	SEC31B_ENST00000451524.1_Frame_Shift_Ins_p.K382fs	NM_015490.3	NP_056305.1	Q9NQW1	SC31B_HUMAN	SEC31 homolog B (S. cerevisiae)	382					protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|vesicle coat (GO:0030120)				NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1)	36		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)		CTAATCCATTTGGGGGGTTTTT	0.49																																						ENST00000370345.3																			0				NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1)	36						c.(1141-1146)ccaatgfs		SEC31 homolog B (S. cerevisiae)																																				SO:0001589	frameshift_variant	25956				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane		g.chr10:102265153_102265154insG	AF274863	CCDS7495.1	10q24.32	2013-01-10	2006-10-05	2006-09-07	ENSG00000075826	ENSG00000075826		"""WD repeat domain containing"""	23197	protein-coding gene	gene with protein product		610258	"""SEC31-like 2 (S. cerevisiae)"""	SEC31L2		16495487	Standard	NM_015490		Approved	SEC31B-1, DKFZP434M183	uc001krc.1	Q9NQW1	OTTHUMG00000019342	ENST00000370345.3:c.1144dupC	10.37:g.102265159_102265159dupG	ENSP00000359370:p.Lys382fs		Somatic				SEC31B_ENST00000451524.1_Frame_Shift_Ins_p.M382fs	p.M382fs	NM_015490.3	NP_056305.1	WXS	Illumina GAIIx	Phase_I	Q9NQW1	SC31B_HUMAN		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)	10	1240_1241	-		Colorectal(252;0.117)	382					B7ZM75|Q6MZS3|Q86UF0|Q9Y4Q8	Frame_Shift_Ins	INS	ENST00000370345.3	37	c.1143_1144insC	CCDS7495.1																																																																																				0.490	SEC31B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051198.1	NM_015490		7	532						7	532	---	---	---	---
BTRC	8945	broad.mit.edu	37	10	103310572	103310573	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr10:103310572_103310573insC	ENST00000370187.3	+	14	1891_1892	c.1773_1774insC	c.(1774-1776)cccfs	p.P592fs	BTRC_ENST00000393441.4_Frame_Shift_Ins_p.P551fs|BTRC_ENST00000408038.2_Frame_Shift_Ins_p.P556fs|BTRC_ENST00000493877.1_3'UTR	NM_033637.3	NP_378663.1	Q9Y297	FBW1A_HUMAN	beta-transducin repeat containing E3 ubiquitin protein ligase	592			P -> H (in dbSNP:rs2270439).		anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cellular response to organic cyclic compound (GO:0071407)|G2/M transition of mitotic cell cycle (GO:0000086)|mammary gland epithelial cell proliferation (GO:0033598)|mitotic cell cycle (GO:0000278)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of proteolysis (GO:0045862)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein dephosphorylation (GO:0006470)|protein destabilization (GO:0031648)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|regulation of cell cycle (GO:0051726)|regulation of circadian rhythm (GO:0042752)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|rhythmic process (GO:0048511)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|signal transduction (GO:0007165)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(4)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	27		Colorectal(252;0.234)		Epithelial(162;1.05e-08)|all cancers(201;6.59e-07)		CCCAAGCTGAACCCCCCCGTTC	0.431																																						ENST00000370187.3																			0				endometrium(4)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	27						c.(1771-1776)gaccccfs		beta-transducin repeat containing E3 ubiquitin protein ligase																																				SO:0001589	frameshift_variant	8945				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|positive regulation of proteolysis|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|viral reproduction|Wnt receptor signaling pathway	cytosol|nucleus|SCF ubiquitin ligase complex		g.chr10:103310572_103310573insC	Y14153	CCDS7511.1, CCDS7512.1, CCDS73183.1	10q24.32	2013-01-10	2012-02-23		ENSG00000166167	ENSG00000166167		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	1144	protein-coding gene	gene with protein product		603482	"""beta-transducin repeat containing"""			9660940, 10331953, 18354483	Standard	NM_033637		Approved	bTrCP, betaTrCP, FBXW1A, Fwd1, beta-TrCP1, bTrCP1	uc001kta.4	Q9Y297	OTTHUMG00000018932	ENST00000370187.3:c.1780dupC	10.37:g.103310579_103310579dupC	ENSP00000359206:p.Pro592fs		Somatic				BTRC_ENST00000408038.2_Frame_Shift_Ins_p.DP555fs|BTRC_ENST00000393441.4_Frame_Shift_Ins_p.DP550fs|BTRC_ENST00000493877.1_3'UTR	p.DP591fs	NM_033637.3	NP_378663.1	WXS	Illumina GAIIx	Phase_I	Q9Y297	FBW1A_HUMAN		Epithelial(162;1.05e-08)|all cancers(201;6.59e-07)	14	1891_1892	+		Colorectal(252;0.234)	591					B5MD49|Q5W141|Q5W142|Q9Y213	Frame_Shift_Ins	INS	ENST00000370187.3	37	c.1773_1774insC	CCDS7512.1																																																																																				0.431	BTRC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049936.1	NM_033637		12	416						12	416	---	---	---	---
TRUB1	142940	broad.mit.edu	37	10	116730191	116730192	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr10:116730191_116730192insC	ENST00000298746.3	+	5	649_650	c.588_589insC	c.(589-591)cccfs	p.P197fs	RNU6-1121P_ENST00000516802.1_RNA	NM_139169.4	NP_631908.1	Q8WWH5	TRUB1_HUMAN	TruB pseudouridine (psi) synthase family member 1	197					pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033)		pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)			breast(2)|kidney(2)|large_intestine(1)|lung(5)|urinary_tract(2)	12		Colorectal(252;0.09)|Breast(234;0.174)|Lung NSC(174;0.245)		Epithelial(162;0.00879)|all cancers(201;0.0243)		TAATGCAAGTGCCCCCCCTGTA	0.317																																						ENST00000298746.3																			0				breast(2)|kidney(2)|large_intestine(1)|lung(5)|urinary_tract(2)	12						c.(586-591)gtccccfs		TruB pseudouridine (psi) synthase family member 1																																				SO:0001589	frameshift_variant	142940				pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding	g.chr10:116730191_116730192insC	AF448144	CCDS7591.1	10q25.3	2013-09-02	2013-09-02		ENSG00000165832	ENSG00000165832			16060	protein-coding gene	gene with protein product		610726	"""TruB pseudouridine (psi) synthase homolog 1 (E. coli)"""			12736709	Standard	NM_139169		Approved	PUS4	uc001lcd.3	Q8WWH5	OTTHUMG00000019094	ENST00000298746.3:c.595dupC	10.37:g.116730198_116730198dupC	ENSP00000298746:p.Pro197fs		Somatic					p.VP196fs	NM_139169.4	NP_631908.1	WXS	Illumina GAIIx	Phase_I	Q8WWH5	TRUB1_HUMAN		Epithelial(162;0.00879)|all cancers(201;0.0243)	5	649_650	+		Colorectal(252;0.09)|Breast(234;0.174)|Lung NSC(174;0.245)	196					B2R716|Q53ES2	Frame_Shift_Ins	INS	ENST00000298746.3	37	c.588_589insC	CCDS7591.1																																																																																				0.317	TRUB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050504.1	NM_139169		11	179						11	179	---	---	---	---
SLC18A2	6571	broad.mit.edu	37	10	119014791	119014792	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr10:119014791_119014792insC	ENST00000298472.5	+	7	847_848	c.704_705insC	c.(703-708)ggccccfs	p.GP235fs	SLC18A2_ENST00000497497.1_3'UTR	NM_003054.4	NP_003045.2	Q05940	VMAT2_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 2	235					aging (GO:0007568)|cellular response to ammonium ion (GO:0071242)|cellular response to drug (GO:0035690)|death (GO:0016265)|dopamine transport (GO:0015872)|endocytic recycling (GO:0032456)|glucose homeostasis (GO:0042593)|insulin secretion (GO:0030073)|locomotory behavior (GO:0007626)|monoamine transport (GO:0015844)|negative regulation of neurotransmitter transport (GO:0051589)|neurotransmitter loading into synaptic vesicle (GO:0098700)|neurotransmitter secretion (GO:0007269)|post-embryonic development (GO:0009791)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|response to corticosterone (GO:0051412)|response to herbicide (GO:0009635)|response to starvation (GO:0042594)|response to zinc ion (GO:0010043)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	clathrin-sculpted monoamine transport vesicle membrane (GO:0070083)|dense core granule (GO:0031045)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)|terminal bouton (GO:0043195)	amine transmembrane transporter activity (GO:0005275)|drug binding (GO:0008144)|monoamine transmembrane transporter activity (GO:0008504)|serotonin transmembrane transporter activity (GO:0015222)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)	29		Colorectal(252;0.19)		all cancers(201;0.029)	Amphetamine(DB00182)|Benzphetamine(DB00865)|Deserpidine(DB01089)|Dextroamphetamine(DB01576)|Ephedra(DB01363)|Ephedrine(DB01364)|Isometheptene(DB06706)|Methamphetamine(DB01577)|Norepinephrine(DB00368)|Propylhexedrine(DB06714)|Reserpine(DB00206)|Tetrabenazine(DB04844)	CCTGCAGTGGGCCCCCCCTTCG	0.569																																						ENST00000298472.5																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)	29						c.(703-705)gccfs		solute carrier family 18 (vesicular monoamine transporter), member 2	Alseroxylon(DB00386)|Reserpine(DB00206)|Tetrabenazine(DB04844)																																			SO:0001589	frameshift_variant	6571				neurotransmitter secretion	clathrin sculpted monoamine transport vesicle membrane|integral to plasma membrane|membrane fraction	monoamine transmembrane transporter activity	g.chr10:119014791_119014792insC	L14269	CCDS7599.1	10q25	2013-07-18	2013-07-18		ENSG00000165646	ENSG00000165646		"""Solute carriers"""	10935	protein-coding gene	gene with protein product		193001		VMAT2			Standard	NM_003054		Approved	SVMT, SVAT	uc001ldd.2	Q05940	OTTHUMG00000019121	ENST00000298472.5:c.711dupC	10.37:g.119014798_119014798dupC	ENSP00000298472:p.Gly235fs		Somatic				SLC18A2_ENST00000497497.1_3'UTR	p.A235fs	NM_003054.4	NP_003045.2	WXS	Illumina GAIIx	Phase_I	Q05940	VMAT2_HUMAN		all cancers(201;0.029)	7	847_848	+		Colorectal(252;0.19)	235					B2RC96|D3DRC4|Q15876|Q4G147|Q5VW49|Q9H3P6	Frame_Shift_Ins	INS	ENST00000298472.5	37	c.704_705insC	CCDS7599.1																																																																																				0.569	SLC18A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050563.1	NM_003054		9	112						9	112	---	---	---	---
DCHS1	8642	broad.mit.edu	37	11	6662141	6662142	+	Frame_Shift_Ins	INS	-	-	G	rs188153920|rs143767864	byFrequency	TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr11:6662141_6662142insG	ENST00000299441.3	-	2	1114_1115	c.703_704insC	c.(703-705)cggfs	p.R235fs		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	235	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R235Q(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTGGGCCCTCCGGGGGGGTGAA	0.589																																						ENST00000299441.3																			1	Substitution - Missense(1)	p.R235Q(1)	urinary_tract(1)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103						c.(703-705)gagfs		dachsous cadherin-related 1				14,4250		0,14,2118						4.7	0.9			101	0,8254		0,0,4127	no	frameshift	DCHS1	NM_003737.2		0,14,6245	A1A1,A1R,RR		0.0,0.3283,0.1118				14,12504				SO:0001589	frameshift_variant	8642				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr11:6662141_6662142insG	AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"""Cadherins / Cadherin-related"""	13681	protein-coding gene	gene with protein product	"""cadherin-related family member 6"""	603057	"""protocadherin 16"", ""dachsous 1 (Drosophila)"""	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.704dupC	11.37:g.6662148_6662148dupG	ENSP00000299441:p.Arg235fs		Somatic					p.E235fs	NM_003737.2	NP_003728.1	WXS	Illumina GAIIx	Phase_I	Q96JQ0	PCD16_HUMAN		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	2	1114_1115	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)	235			Cadherin 2.		O15098	Frame_Shift_Ins	INS	ENST00000299441.3	37	c.703_704insC	CCDS7771.1																																																																																				0.589	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	NM_003737		7	136						7	136	---	---	---	---
EIF4G2	1982	broad.mit.edu	37	11	10820934	10820935	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr11:10820934_10820935insG	ENST00000526148.1	-	20	2871_2872	c.2361_2362insC	c.(2359-2364)cccagcfs	p.S788fs	RP11-685M7.5_ENST00000532365.1_RNA|EIF4G2_ENST00000396525.2_Frame_Shift_Ins_p.S750fs|SNORD97_ENST00000459187.1_RNA|EIF4G2_ENST00000525681.1_Frame_Shift_Ins_p.S788fs|EIF4G2_ENST00000339995.5_Frame_Shift_Ins_p.S788fs	NM_001172705.1	NP_001166176			eukaryotic translation initiation factor 4 gamma, 2									p.S788R(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	43				all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		GTTTCATCGCTGGGGGGGTTTA	0.406																																						ENST00000526148.1																			1	Substitution - Missense(1)	p.S788R(1)	lung(1)	NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	43						c.(2359-2364)ccgcgafs		eukaryotic translation initiation factor 4 gamma, 2																																				SO:0001589	frameshift_variant	1982				cell cycle arrest|cell death|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity	g.chr11:10820934_10820935insG	U73824	CCDS31428.1, CCDS41618.1	11p15	2005-09-29			ENSG00000110321	ENSG00000110321			3297	protein-coding gene	gene with protein product		602325				9030685, 9032289	Standard	NM_001042559		Approved	DAP5, NAT1, p97	uc001mjc.3	P78344	OTTHUMG00000165823	ENST00000526148.1:c.2362dupC	11.37:g.10820941_10820941dupG	ENSP00000433664:p.Ser788fs		Somatic				EIF4G2_ENST00000525681.1_Frame_Shift_Ins_p.R788fs|RP11-685M7.5_ENST00000532365.1_RNA|EIF4G2_ENST00000396525.2_Frame_Shift_Ins_p.R750fs|EIF4G2_ENST00000339995.5_Frame_Shift_Ins_p.R788fs	p.R788fs	NM_001172705.1	NP_001166176.1	WXS	Illumina GAIIx	Phase_I	P78344	IF4G2_HUMAN		all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)	20	2871_2872	-			788			W2.			Frame_Shift_Ins	INS	ENST00000526148.1	37	c.2361_2362insC	CCDS31428.1																																																																																				0.406	EIF4G2-006	KNOWN	alternative_5_UTR|non_ATG_start|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000386603.1	NM_001418		7	142						7	142	---	---	---	---
LRP4	4038	broad.mit.edu	37	11	46880747	46880748	+	Frame_Shift_Ins	INS	-	-	C	rs560166088		TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr11:46880747_46880748insC	ENST00000378623.1	-	38	5746_5747	c.5504_5505insG	c.(5503-5505)ggcfs	p.G1835fs	LRP4-AS1_ENST00000502049.2_RNA|LRP4-AS1_ENST00000531719.1_RNA	NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	1835					dendrite morphogenesis (GO:0048813)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|limb development (GO:0060173)|negative regulation of axonogenesis (GO:0050771)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ossification (GO:0030279)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of presynaptic membrane organization (GO:1901631)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|proximal/distal pattern formation (GO:0009954)|regulation of protein phosphorylation (GO:0001932)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|synapse organization (GO:0050808)|synaptic growth at neuromuscular junction (GO:0051124)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|synaptic membrane (GO:0097060)	calcium ion binding (GO:0005509)|receptor tyrosine kinase binding (GO:0030971)|scaffold protein binding (GO:0097110)			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		CCCGGAGGAGGCCCCCCCGTGA	0.564																																						ENST00000378623.1																			0				breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70						c.(5503-5505)gctfs		low density lipoprotein receptor-related protein 4																																				SO:0001589	frameshift_variant	4038				endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity	g.chr11:46880747_46880748insC	AB011540	CCDS31478.1	11p11.2	2013-05-29			ENSG00000134569	ENSG00000134569		"""Low density lipoprotein receptors"""	6696	protein-coding gene	gene with protein product		604270				9693030	Standard	NM_002334		Approved	MEGF7, CLSS, LRP-4, SOST2	uc001ndn.4	O75096	OTTHUMG00000166700	ENST00000378623.1:c.5505dupG	11.37:g.46880754_46880754dupC	ENSP00000367888:p.Gly1835fs		Somatic				LRP4-AS1_ENST00000531719.1_RNA|LRP4-AS1_ENST00000502049.2_RNA	p.A1835fs	NM_002334.3	NP_002325.2	WXS	Illumina GAIIx	Phase_I	O75096	LRP4_HUMAN		Lung(87;0.159)	38	5746_5747	-			1835					B2RN39|Q4AC85|Q5KTZ5	Frame_Shift_Ins	INS	ENST00000378623.1	37	c.5504_5505insG	CCDS31478.1																																																																																				0.564	LRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391133.1	NM_002334		12	214						12	214	---	---	---	---
SSRP1	6749	broad.mit.edu	37	11	57093916	57093917	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr11:57093916_57093917insG	ENST00000278412.2	-	17	2360_2361	c.2094_2095insC	c.(2092-2097)cccagcfs	p.S699fs	RP11-872D17.4_ENST00000534162.1_RNA|snoU13_ENST00000459327.1_RNA|TNKS1BP1_ENST00000358252.3_5'Flank	NM_003146.2	NP_003137.1	Q08945	SSRP1_HUMAN	structure specific recognition protein 1	699	Ser-rich.				DNA repair (GO:0006281)|DNA replication (GO:0006260)|gene expression (GO:0010467)|positive regulation of viral transcription (GO:0050434)|regulation of transcription, DNA-templated (GO:0006355)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(4)	23						TCCTCTGAGCTGGGGGGAGTAC	0.54																																					Colon(89;1000 1340 6884 23013 41819)	ENST00000278412.2																			0				breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(4)	23						c.(2092-2097)ccgctcfs		structure specific recognition protein 1																																				SO:0001589	frameshift_variant	6749				DNA repair|DNA replication|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|cytoplasm|nucleoplasm	DNA binding|protein binding	g.chr11:57093916_57093917insG	M86737	CCDS7952.1	11q12	2008-02-05			ENSG00000149136	ENSG00000149136			11327	protein-coding gene	gene with protein product	"""facilitates chromatin remodeling 80 kDa subunit"""	604328				1372440	Standard	NM_003146		Approved	FACT80	uc001njt.3	Q08945	OTTHUMG00000167024	ENST00000278412.2:c.2095dupC	11.37:g.57093922_57093922dupG	ENSP00000278412:p.Ser699fs		Somatic				RP11-872D17.4_ENST00000534162.1_RNA	p.L699fs	NM_003146.2	NP_003137.1	WXS	Illumina GAIIx	Phase_I	Q08945	SSRP1_HUMAN			17	2360_2361	-			699			Ser-rich.		Q5BJG8	Frame_Shift_Ins	INS	ENST00000278412.2	37	c.2094_2095insC	CCDS7952.1																																																																																				0.540	SSRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392460.1	NM_003146		8	291						8	291	---	---	---	---
SLC43A3	29015	broad.mit.edu	37	11	57185234	57185235	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr11:57185234_57185235insG	ENST00000395123.2	-	8	961_962	c.657_658insC	c.(655-660)cccaacfs	p.N220fs	SLC43A3_ENST00000352187.1_Frame_Shift_Ins_p.N220fs|SLC43A3_ENST00000528098.1_5'UTR|SLC43A3_ENST00000529554.1_Frame_Shift_Ins_p.N220fs|SLC43A3_ENST00000533524.1_Frame_Shift_Ins_p.N233fs|SLC43A3_ENST00000395124.1_Frame_Shift_Ins_p.N220fs	NM_001278201.1|NM_014096.2	NP_001265130.1|NP_054815.2	Q8NBI5	S43A3_HUMAN	solute carrier family 43, member 3	220					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	27						TAGCTGTAGTTGGGGGGCAGTG	0.564																																						ENST00000395123.2																			0				central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	27						c.(655-660)ccactafs		solute carrier family 43, member 3																																				SO:0001589	frameshift_variant	29015				transmembrane transport	integral to membrane		g.chr11:57185234_57185235insG	AL157431	CCDS7956.1, CCDS60784.1	11q11	2013-05-22			ENSG00000134802	ENSG00000134802		"""Solute carriers"""	17466	protein-coding gene	gene with protein product	"""likely ortholog of mouse embryonic epithelial gene 1"""					7531438, 11704567	Standard	NM_017611		Approved	SEEEG-1, Eeg1, DKFZp762A227, FOAP-13, PRO1659	uc001nki.3	Q8NBI5	OTTHUMG00000167113	ENST00000395123.2:c.658dupC	11.37:g.57185240_57185240dupG	ENSP00000378555:p.Asn220fs		Somatic				SLC43A3_ENST00000529554.1_Frame_Shift_Ins_p.L220fs|SLC43A3_ENST00000395124.1_Frame_Shift_Ins_p.L220fs|SLC43A3_ENST00000528098.1_5'UTR|SLC43A3_ENST00000533524.1_Frame_Shift_Ins_p.L233fs|SLC43A3_ENST00000352187.1_Frame_Shift_Ins_p.L220fs	p.L220fs	NM_001278201.1|NM_014096.2	NP_001265130.1|NP_054815.2	WXS	Illumina GAIIx	Phase_I	Q8NBI5	S43A3_HUMAN			8	961_962	-			220					B4DNR8|E7EQD2|Q9NSS4	Frame_Shift_Ins	INS	ENST00000395123.2	37	c.657_658insC	CCDS7956.1																																																																																				0.564	SLC43A3-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000393057.1	NM_017611		11	289						11	289	---	---	---	---
PATL1	219988	broad.mit.edu	37	11	59425145	59425146	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr11:59425145_59425146insG	ENST00000300146.9	-	5	562_563	c.478_479insC	c.(478-480)cagfs	p.Q160fs		NM_152716.2	NP_689929.2	Q86TB9	PATL1_HUMAN	protein associated with topoisomerase II homolog 1 (yeast)	160	Involved in nuclear foci localization.|Pro-rich.|Region N; interaction with decapping machinery.			Q -> H (in Ref. 2; BAG54601). {ECO:0000305}.	cytoplasmic mRNA processing body assembly (GO:0033962)|deadenylation-dependent decapping of nuclear-transcribed mRNA (GO:0000290)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(2)|lung(5)|ovary(1)|prostate(2)	11						TTCTGGACCCTGGGGGGGCCTC	0.455																																						ENST00000300146.9																			0				central_nervous_system(1)|endometrium(2)|lung(5)|ovary(1)|prostate(2)	11						c.(478-480)gggfs		protein associated with topoisomerase II homolog 1 (yeast)																																				SO:0001589	frameshift_variant	219988				cytoplasmic mRNA processing body assembly|deadenylation-dependent decapping of nuclear-transcribed mRNA	cytoplasmic mRNA processing body	protein binding|RNA binding	g.chr11:59425145_59425146insG	AK094193	CCDS44613.1	11q12.1	2012-06-07	2007-10-18		ENSG00000166889	ENSG00000166889			26721	protein-coding gene	gene with protein product		614660				17936923	Standard	NM_152716		Approved	FLJ36874, Pat1b	uc001noe.4	Q86TB9	OTTHUMG00000167423	ENST00000300146.9:c.479dupC	11.37:g.59425152_59425152dupG	ENSP00000300146:p.Gln160fs		Somatic					p.G160fs	NM_152716.2	NP_689929.2	WXS	Illumina GAIIx	Phase_I	Q86TB9	PATL1_HUMAN			5	562_563	-			160	Q -> H (in Ref. 2; BAG54601).		Pro-rich.|Region N; interaction with decapping machinery.		B3KXT9|Q2TA86|Q6P166|Q8N9M6|Q8NI63	Frame_Shift_Ins	INS	ENST00000300146.9	37	c.478_479insC	CCDS44613.1																																																																																				0.455	PATL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394559.1	NM_152716		11	250						11	250	---	---	---	---
DDB1	1642	broad.mit.edu	37	11	61093159	61093160	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr11:61093159_61093160insC	ENST00000301764.7	-	6	1082_1083	c.685_686insG	c.(685-687)gccfs	p.A229fs	DDB1_ENST00000545930.1_5'UTR|DDB1_ENST00000450997.2_Intron	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1, 127kDa	229	Interaction with CDT1.|WD repeat beta-propeller A.				DNA repair (GO:0006281)|histone H2A monoubiquitination (GO:0035518)|negative regulation of apoptotic process (GO:0043066)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of mitotic cell cycle phase transition (GO:1901990)|UV-damage excision repair (GO:0070914)|viral process (GO:0016032)|Wnt signaling pathway (GO:0016055)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						AATGATGATGGCCCCCCCAAAG	0.49								Nucleotide excision repair (NER)																														ENST00000301764.7																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						c.(685-687)catfs	Nucleotide excision repair (NER)	damage-specific DNA binding protein 1, 127kDa																																				SO:0001589	frameshift_variant	1642				cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm	damaged DNA binding|protein binding	g.chr11:61093159_61093160insC	AJ002955	CCDS31576.1	11q12-q13	2014-09-17	2002-08-29		ENSG00000167986	ENSG00000167986			2717	protein-coding gene	gene with protein product		600045	"""damage-specific DNA binding protein 1 (127kD)"""			8530102, 10574459	Standard	NM_001923		Approved	XPE	uc001nrc.5	Q16531	OTTHUMG00000168209	ENST00000301764.7:c.686dupG	11.37:g.61093166_61093166dupC	ENSP00000301764:p.Ala229fs		Somatic				DDB1_ENST00000545930.1_5'UTR|DDB1_ENST00000450997.2_Intron	p.H229fs	NM_001923.4	NP_001914.3	WXS	Illumina GAIIx	Phase_I	Q16531	DDB1_HUMAN			6	1082_1083	-			229			Interaction with CDT1.		A6NG77|B2R648|B4DG00|O15176|Q13289|Q58F96	Frame_Shift_Ins	INS	ENST00000301764.7	37	c.685_686insG	CCDS31576.1																																																																																				0.490	DDB1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398816.1	NM_001923		8	65						8	65	---	---	---	---
DDB1	1642	broad.mit.edu	37	11	61094367	61094368	+	Splice_Site	INS	-	-	G	rs555561982	byFrequency	TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr11:61094367_61094368insG	ENST00000301764.7	-	5	947		c.e5-2		DDB1_ENST00000545930.1_Splice_Site|DDB1_ENST00000450997.2_Intron	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1, 127kDa						DNA repair (GO:0006281)|histone H2A monoubiquitination (GO:0035518)|negative regulation of apoptotic process (GO:0043066)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of mitotic cell cycle phase transition (GO:1901990)|UV-damage excision repair (GO:0070914)|viral process (GO:0016032)|Wnt signaling pathway (GO:0016055)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						CTGAGGGTCCTGGGGGGGAAAG	0.515								Nucleotide excision repair (NER)																														ENST00000301764.7																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						c.e5-2	Nucleotide excision repair (NER)	damage-specific DNA binding protein 1, 127kDa				2,4260		0,2,2129						4.8	1.0			84	5,8245		0,5,4120	no	splice-3	DDB1	NM_001923.3		0,7,6249	A1A1,A1R,RR		0.0606,0.0469,0.0559				7,12505				SO:0001630	splice_region_variant	1642				cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm	damaged DNA binding|protein binding	g.chr11:61094367_61094368insG	AJ002955	CCDS31576.1	11q12-q13	2014-09-17	2002-08-29		ENSG00000167986	ENSG00000167986			2717	protein-coding gene	gene with protein product		600045	"""damage-specific DNA binding protein 1 (127kD)"""			8530102, 10574459	Standard	NM_001923		Approved	XPE	uc001nrc.5	Q16531	OTTHUMG00000168209	ENST00000301764.7:c.550-2->C	11.37:g.61094374_61094374dupG			Somatic				DDB1_ENST00000545930.1_Splice_Site|DDB1_ENST00000450997.2_Intron		NM_001923.4	NP_001914.3	WXS	Illumina GAIIx	Phase_I	Q16531	DDB1_HUMAN			5	947	-								A6NG77|B2R648|B4DG00|O15176|Q13289|Q58F96	Splice_Site	INS	ENST00000301764.7	37		CCDS31576.1																																																																																				0.515	DDB1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398816.1	NM_001923	Intron	8	185						8	185	---	---	---	---
CPSF7	79869	broad.mit.edu	37	11	61183884	61183885	+	Frame_Shift_Ins	INS	-	-	G	rs548830763		TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr11:61183884_61183885insG	ENST00000394888.4	-	6	829_830	c.657_658insC	c.(655-660)cccagtfs	p.S220fs	CPSF7_ENST00000340437.4_Frame_Shift_Ins_p.S263fs|CPSF7_ENST00000439958.3_Frame_Shift_Ins_p.S211fs|CPSF7_ENST00000448745.1_Frame_Shift_Ins_p.S211fs	NM_001136040.2	NP_001129512.1	Q8N684	CPSF7_HUMAN	cleavage and polyadenylation specific factor 7, 59kDa	220	Pro-rich.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA splicing, via spliceosome (GO:0000398)|protein tetramerization (GO:0051262)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)|mRNA cleavage factor complex (GO:0005849)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	22						GGCAGCACACTGGGGGGCTTAT	0.594																																						ENST00000340437.4																			0				breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	22						c.(784-789)ccgtgtfs		cleavage and polyadenylation specific factor 7, 59kDa																																				SO:0001589	frameshift_variant	79869				mRNA 3'-end processing|nuclear mRNA splicing, via spliceosome|protein tetramerization|termination of RNA polymerase II transcription	mRNA cleavage factor complex	nucleotide binding|protein binding|RNA binding	g.chr11:61183884_61183885insG		CCDS8006.2, CCDS44619.1, CCDS44620.1	11q12.2	2013-06-18			ENSG00000149532	ENSG00000149532		"""RNA binding motif (RRM) containing"""	30098	protein-coding gene	gene with protein product	"""pre mRNA cleavage factor I, 59 kDa subunit"", ""cleavage factor Im complex 59 kDa subunit"""					12477932	Standard	NM_024811		Approved	FLJ12529	uc001nrp.3	Q8N684	OTTHUMG00000168198	ENST00000394888.4:c.658dupC	11.37:g.61183890_61183890dupG	ENSP00000378352:p.Ser220fs		Somatic				CPSF7_ENST00000439958.3_Frame_Shift_Ins_p.C211fs|CPSF7_ENST00000448745.1_Frame_Shift_Ins_p.C211fs|CPSF7_ENST00000394888.4_Frame_Shift_Ins_p.C220fs	p.C263fs	NM_024811.3	NP_079087.3	WXS	Illumina GAIIx	Phase_I	Q8N684	CPSF7_HUMAN			6	866_867	-			220			Pro-rich.		B3KU04|C9K0Q4|Q7Z3H9|Q9H025|Q9H9V1	Frame_Shift_Ins	INS	ENST00000394888.4	37	c.786_787insC	CCDS44619.1																																																																																				0.594	CPSF7-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347835.2	NM_024811		10	554						10	554	---	---	---	---
MYRF	745	broad.mit.edu	37	11	61539012	61539013	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr11:61539012_61539013insC	ENST00000278836.5	+	6	877_878	c.781_782insC	c.(781-783)tccfs	p.S261fs	MYRF_ENST00000265460.5_Frame_Shift_Ins_p.S252fs|TMEM258_ENST00000535042.1_Intron|MYRF_ENST00000327797.1_5'Flank	NM_001127392.1	NP_001120864.1	Q9Y2G1	MRF_HUMAN	myelin regulatory factor	261	Pro-rich.				central nervous system myelin maintenance (GO:0032286)|central nervous system myelination (GO:0022010)|oligodendrocyte development (GO:0014003)|oligodendrocyte differentiation (GO:0048709)|positive regulation of myelination (GO:0031643)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|peptidase activity (GO:0008233)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S255fs*74(1)									GCACTCTGAATCCCCCCCCAGC	0.634																																						ENST00000278836.5																			1	Insertion - Frameshift(1)	p.S255fs*74(1)	haematopoietic_and_lymphoid_tissue(1)								c.(781-783)cccfs		myelin regulatory factor																																				SO:0001589	frameshift_variant	745							g.chr11:61539012_61539013insC		CCDS31579.1, CCDS44622.1	11q12-q13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000124920	ENSG00000124920			1181	protein-coding gene	gene with protein product	"""myelin gene regulatory factor"""	608329	"""chromosome 11 open reading frame 9"""	C11orf9		10828591, 12384578	Standard	NM_001127392		Approved	Ndt80, pqn-47, MRF	uc001nsc.1	Q9Y2G1	OTTHUMG00000168161	ENST00000278836.5:c.789dupC	11.37:g.61539020_61539020dupC	ENSP00000278836:p.Ser261fs		Somatic				MYRF_ENST00000265460.5_Frame_Shift_Ins_p.P252fs|TMEM258_ENST00000535042.1_Intron	p.P261fs	NM_001127392.1	NP_001120864.1	WXS	Illumina GAIIx	Phase_I					6	877_878	+								O43582|Q9P1Q6	Frame_Shift_Ins	INS	ENST00000278836.5	37	c.781_782insC	CCDS44622.1																																																																																				0.634	MYRF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398519.2	NM_013279		8	53						8	53	---	---	---	---
HRASLS5	117245	broad.mit.edu	37	11	63257814	63257815	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr11:63257814_63257815insG	ENST00000301790.4	-	2	328_329	c.169_170insC	c.(169-171)cttfs	p.L57fs	HRASLS5_ENST00000539221.1_Frame_Shift_Ins_p.L57fs|HRASLS5_ENST00000540857.1_Intron			Q96KN8	HRSL5_HUMAN	HRAS-like suppressor family, member 5	57							transferase activity, transferring acyl groups (GO:0016746)			endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	14						TTCTAATTCAAGGGGGGAAATG	0.564																																						ENST00000539221.1																			0				endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	14						c.(169-171)tgafs		HRAS-like suppressor family, member 5			,,	0,4264		0,0,2132					,,	-0.6	0.1			154	1,8251		0,1,4125	no	frameshift,intron,frameshift	HRASLS5	NM_054108.3,NM_001146729.1,NM_001146728.1	,,	0,1,6257	A1A1,A1R,RR		0.0121,0.0,0.0080	,,	,,		1,12515				SO:0001589	frameshift_variant	117245							g.chr11:63257814_63257815insG	AJ416558	CCDS8044.1, CCDS53646.1, CCDS53647.1	11q13.2	2006-08-16			ENSG00000168004	ENSG00000168004			24978	protein-coding gene	gene with protein product		611474					Standard	NM_001146729		Approved	HRLP5	uc001nwy.2	Q96KN8	OTTHUMG00000167806	ENST00000301790.4:c.170dupC	11.37:g.63257820_63257820dupG	ENSP00000301790:p.Leu57fs		Somatic				HRASLS5_ENST00000540857.1_Intron|HRASLS5_ENST00000301790.4_Frame_Shift_Ins_p.*57fs	p.*57fs			WXS	Illumina GAIIx	Phase_I	Q96KN8	HRSL5_HUMAN			2	302_303	-			57					B7X6T1|F5GZ87|F5H4Y9	Frame_Shift_Ins	INS	ENST00000301790.4	37	c.169_170insC	CCDS8044.1																																																																																				0.564	HRASLS5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396375.1	NM_054108		9	479						9	479	---	---	---	---
DPP3	10072	broad.mit.edu	37	11	66272154	66272155	+	Frame_Shift_Ins	INS	-	-	C	rs202225573|rs142447712		TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr11:66272154_66272155insC	ENST00000360510.2	+	17	2015_2016	c.1950_1951insC	c.(1951-1953)cccfs	p.P651fs	DPP3_ENST00000541961.1_Frame_Shift_Ins_p.P651fs|DPP3_ENST00000453114.1_Frame_Shift_Ins_p.P651fs|DPP3_ENST00000531863.1_Frame_Shift_Ins_p.P671fs|DPP3_ENST00000532677.1_Frame_Shift_Ins_p.P670fs|DPP3_ENST00000530165.1_Frame_Shift_Ins_p.P621fs			Q9NY33	DPP3_HUMAN	dipeptidyl-peptidase 3	651					proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dipeptidyl-peptidase activity (GO:0008239)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						TCACTGATGCGCCCCCCGAGTG	0.579																																						ENST00000532677.1																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						c.(2005-2010)gcccccfs		dipeptidyl-peptidase 3																																				SO:0001589	frameshift_variant	10072				proteolysis	cytoplasm	aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity	g.chr11:66272154_66272155insC	AB017970	CCDS8141.1, CCDS58147.1	11q12-q13.1	2008-02-05	2006-01-12		ENSG00000254986	ENSG00000254986	3.4.14.4		3008	protein-coding gene	gene with protein product		606818	"""dipeptidylpeptidase III"", ""dipeptidylpeptidase 3"""			10773679	Standard	NM_005700		Approved		uc001oif.2	Q9NY33	OTTHUMG00000167143	ENST00000360510.2:c.1956dupC	11.37:g.66272160_66272160dupC	ENSP00000353701:p.Pro651fs		Somatic				DPP3_ENST00000531863.1_Frame_Shift_Ins_p.AP670fs|DPP3_ENST00000541961.1_Frame_Shift_Ins_p.AP650fs|DPP3_ENST00000453114.1_Frame_Shift_Ins_p.AP650fs|DPP3_ENST00000360510.2_Frame_Shift_Ins_p.AP650fs|DPP3_ENST00000530165.1_Frame_Shift_Ins_p.AP620fs	p.AP669fs	NM_001256670.1|NM_005700.4|NM_130443.3	NP_001243599.1|NP_005691.2|NP_569710.2	WXS	Illumina GAIIx	Phase_I	Q9NY33	DPP3_HUMAN			17	2408_2409	+			650					B2RDB5|B4DLX4|F5H8L6|O95748|Q969H2|Q9BV67|Q9HAL6	Frame_Shift_Ins	INS	ENST00000360510.2	37	c.2007_2008insC	CCDS8141.1																																																																																				0.579	DPP3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393424.2			7	198						7	198	---	---	---	---
NUMA1	4926	broad.mit.edu	37	11	71746964	71746965	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr11:71746964_71746965insC	ENST00000393695.3	-	3	356_357	c.25_26insG	c.(25-27)gctfs	p.A9fs	NUMA1_ENST00000358965.6_Frame_Shift_Ins_p.A9fs|NUMA1_ENST00000351960.6_Frame_Shift_Ins_p.A9fs	NM_006185.2	NP_006176.2			nuclear mitotic apparatus protein 1											central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						GAGGAGTGCAGCCCCCCGGGTG	0.505			T	RARA	APL																																	ENST00000393695.3				Dom	yes		11	11q13	4926	T	nuclear mitotic apparatus protein 1			L	RARA		APL		0				central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						c.(25-27)tgcfs		nuclear mitotic apparatus protein 1																																				SO:0001589	frameshift_variant	4926				G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity	g.chr11:71746964_71746965insC	Z11584	CCDS31633.1, CCDS66156.1	11q13	2008-02-05				ENSG00000137497			8059	protein-coding gene	gene with protein product		164009				8406455	Standard	NM_006185		Approved		uc001orl.1	Q14980		ENST00000393695.3:c.26dupG	11.37:g.71746970_71746970dupC	ENSP00000377298:p.Ala9fs		Somatic				NUMA1_ENST00000351960.6_Frame_Shift_Ins_p.C9fs|NUMA1_ENST00000358965.6_Frame_Shift_Ins_p.C9fs	p.C9fs	NM_006185.2	NP_006176.2	WXS	Illumina GAIIx	Phase_I	Q14980	NUMA1_HUMAN			3	356_357	-			9						Frame_Shift_Ins	INS	ENST00000393695.3	37	c.25_26insG	CCDS31633.1																																																																																				0.505	NUMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395769.1			8	290						8	290	---	---	---	---
MYO7A	4647	broad.mit.edu	37	11	76873960	76873961	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr11:76873960_76873961insC	ENST00000409709.3	+	14	1888_1889	c.1616_1617insC	c.(1615-1620)atccccfs	p.IP539fs	MYO7A_ENST00000409619.2_Frame_Shift_Ins_p.IP528fs|MYO7A_ENST00000458637.2_Frame_Shift_Ins_p.IP539fs|MYO7A_ENST00000409893.1_Frame_Shift_Ins_p.IP539fs	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	539	Myosin motor.				actin filament-based movement (GO:0030048)|auditory receptor cell stereocilium organization (GO:0060088)|equilibrioception (GO:0050957)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|lysosome organization (GO:0007040)|metabolic process (GO:0008152)|phagolysosome assembly (GO:0001845)|pigment granule transport (GO:0051904)|post-embryonic organ morphogenesis (GO:0048563)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|melanosome (GO:0042470)|myosin VII complex (GO:0031477)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium (GO:0032420)|synapse (GO:0045202)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|spectrin binding (GO:0030507)	p.K542fs*80(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						GCCAACTACATCCCCCCCAAGA	0.564																																						ENST00000409709.3																			1	Deletion - Frameshift(1)	p.K542fs*80(1)	large_intestine(1)	NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.(1615-1617)accfs		myosin VIIA																																				SO:0001589	frameshift_variant	4647				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr11:76873960_76873961insC	U39226	CCDS53683.1, CCDS53684.1, CCDS53685.1	11q13.5	2013-01-08	2005-09-12		ENSG00000137474	ENSG00000137474		"""A-kinase anchor proteins"", ""Myosins / Myosin superfamily : Class VII"""	7606	protein-coding gene	gene with protein product		276903	"""myosin VIIA (Usher syndrome 1B (autosomal recessive, severe))"""	USH1B, DFNB2, DFNA11		8884266	Standard	NM_000260		Approved	NSRD2	uc001oyb.2	Q13402	OTTHUMG00000152822	ENST00000409709.3:c.1623dupC	11.37:g.76873967_76873967dupC	ENSP00000386331:p.Ile539fs		Somatic				MYO7A_ENST00000409893.1_Frame_Shift_Ins_p.T539fs|MYO7A_ENST00000409619.2_Frame_Shift_Ins_p.T528fs|MYO7A_ENST00000458637.2_Frame_Shift_Ins_p.T539fs	p.T539fs	NM_000260.3	NP_000251.3	WXS	Illumina GAIIx	Phase_I	Q13402	MYO7A_HUMAN			14	1888_1889	+			539			Myosin head-like.		B9A011|F8VUN5|P78427|Q13321|Q14785|Q92821|Q92822	Frame_Shift_Ins	INS	ENST00000409709.3	37	c.1616_1617insC	CCDS53683.1																																																																																				0.564	MYO7A-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000328133.1	NM_000260		23	252						23	252	---	---	---	---
RSF1	51773	broad.mit.edu	37	11	77412023	77412024	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr11:77412023_77412024insG	ENST00000308488.6	-	6	2552_2553	c.2250_2251insC	c.(2248-2253)cccaaafs	p.K751fs	RSF1_ENST00000360355.2_Frame_Shift_Ins_p.K720fs|RSF1_ENST00000480887.1_Frame_Shift_Ins_p.K499fs			Q96T23	RSF1_HUMAN	remodeling and spacing factor 1	751					CENP-A containing nucleosome assembly (GO:0034080)|chromatin remodeling (GO:0006338)|DNA-templated transcription, initiation (GO:0006352)|negative regulation of DNA binding (GO:0043392)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of viral transcription (GO:0050434)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|RSF complex (GO:0031213)	histone binding (GO:0042393)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)			TCTAGAACTTTGGGGGGAGAAT	0.411																																						ENST00000308488.6																			0				breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43						c.(2248-2253)ccaagtfs		remodeling and spacing factor 1																																				SO:0001589	frameshift_variant	51773				CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent	RSF complex	histone binding|protein binding|zinc ion binding	g.chr11:77412023_77412024insG	AF380176, AF227948	CCDS8253.1	11q14.1	2013-01-28	2006-05-25	2006-05-25	ENSG00000048649	ENSG00000048649		"""Zinc fingers, PHD-type"""	18118	protein-coding gene	gene with protein product		608522	"""hepatitis B virus x associated protein"""	HBXAP		11788598, 12972596	Standard	NM_016578		Approved	XAP8, RSF-1, p325	uc001oyn.3	Q96T23	OTTHUMG00000150433	ENST00000308488.6:c.2251dupC	11.37:g.77412029_77412029dupG	ENSP00000311513:p.Lys751fs		Somatic				RSF1_ENST00000480887.1_Frame_Shift_Ins_p.S499fs|RSF1_ENST00000360355.2_Frame_Shift_Ins_p.S720fs	p.S751fs			WXS	Illumina GAIIx	Phase_I	Q96T23	RSF1_HUMAN	Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)		6	2552_2553	-	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		751					Q86X86|Q9H3L8|Q9NVZ8|Q9NYU0	Frame_Shift_Ins	INS	ENST00000308488.6	37	c.2250_2251insC	CCDS8253.1																																																																																				0.411	RSF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318075.2	NM_016578		10	699						10	699	---	---	---	---
SRSF8	10929	broad.mit.edu	37	11	94801196	94801197	+	RNA	INS	-	-	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr11:94801196_94801197insC	ENST00000529911.1	+	0	836_837					NM_032102.3	NP_115285.1	Q9BRL6	SRSF8_HUMAN	serine/arginine-rich splicing factor 8						mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)										GATCCAAGAGGCCCCCCAAGTC	0.535																																						ENST00000529911.1																			0													serine/arginine-rich splicing factor 8																																						10929				mRNA processing|RNA splicing	nucleus	nucleotide binding|RNA binding	g.chr11:94801196_94801197insC	AF031166	CCDS73370.1	11q21	2014-05-06	2010-06-22	2010-06-22	ENSG00000180771	ENSG00000263465		"""Serine/arginine-rich splicing factors"""	16988	protein-coding gene	gene with protein product	"""SR splicing factor 8"""	603269	"""splicing factor, arginine/serine-rich 2B"""	SFRS2B		9671500, 20516191	Standard	NM_032102		Approved	SRP46	uc001pff.3	Q9BRL6	OTTHUMG00000188534		11.37:g.94801202_94801202dupC			Somatic						NM_032102.3	NP_115285.1	WXS	Illumina GAIIx	Phase_I	Q9BRL6	SRSF8_HUMAN			0	836_837	+								B2R6B8|Q6PF01|Q96TA3	RNA	INS	ENST00000529911.1	37																																																																																						0.535	SRSF8-002	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000390962.3	NM_032102		7	97						7	97	---	---	---	---
CLDN25	644672	broad.mit.edu	37	11	113650550	113650551	+	Frame_Shift_Ins	INS	-	-	G	rs367566026		TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr11:113650550_113650551insG	ENST00000453129.2	+	1	82_83	c.33_34insG	c.(34-36)gggfs	p.G12fs		NM_001101389.1	NP_001094859.1	C9JDP6	CLD25_HUMAN	claudin 25	12						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	structural molecule activity (GO:0005198)	p.L14fs*24(1)		large_intestine(1)|lung(6)|ovary(1)|urinary_tract(2)	10						AAGTCCAGCTCGGGGGGCTACT	0.55																																						ENST00000453129.2																			1	Insertion - Frameshift(1)	p.L14fs*24(1)	ovary(1)	large_intestine(1)|lung(6)|ovary(1)|urinary_tract(2)	10						c.(31-36)ctggggfs		claudin 25																																				SO:0001589	frameshift_variant	644672					integral to membrane|tight junction	structural molecule activity	g.chr11:113650550_113650551insG		CCDS44736.1	11q23.2	2009-09-22			ENSG00000228607	ENSG00000228607			37218	protein-coding gene	gene with protein product							Standard	NM_001101389		Approved		uc009yyw.1	C9JDP6	OTTHUMG00000168193	ENST00000453129.2:c.39dupG	11.37:g.113650556_113650556dupG	ENSP00000396304:p.Gly12fs		Somatic					p.LG11fs	NM_001101389.1	NP_001094859.1	WXS	Illumina GAIIx	Phase_I	C9JDP6	CLD25_HUMAN			1	82_83	+			11						Frame_Shift_Ins	INS	ENST00000453129.2	37	c.33_34insG	CCDS44736.1																																																																																				0.550	CLDN25-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398706.1	NM_001101389		8	217						8	217	---	---	---	---
CCDC153	283152	broad.mit.edu	37	11	119061042	119061043	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr11:119061042_119061043insG	ENST00000503566.2	-	6	598_599	c.599_600insC	c.(598-600)cctfs	p.P200fs	CCDC153_ENST00000415318.1_Frame_Shift_Ins_p.P200fs			Q494R4	CC153_HUMAN	coiled-coil domain containing 153	200										lung(3)|stomach(1)	4						TCAAAGATCCAGGGGGGGTGAG	0.569																																						ENST00000503566.2																			0				lung(3)|stomach(1)	4						c.(598-600)cggfs		coiled-coil domain containing 153				6,4256		0,6,2125						3.6	1.0			88	8,8244		0,8,4118	no	frameshift	CCDC153	NM_001145018.1		0,14,6243	A1A1,A1R,RR		0.0969,0.1408,0.1119				14,12500				SO:0001589	frameshift_variant	283152							g.chr11:119061042_119061043insG		CCDS44753.1	11q23.3	2011-07-22			ENSG00000248712	ENSG00000248712			27446	protein-coding gene	gene with protein product						12477932	Standard	NM_001145018		Approved	LOC283152	uc010rze.2	Q494R4	OTTHUMG00000156903	ENST00000503566.2:c.600dupC	11.37:g.119061049_119061049dupG	ENSP00000423567:p.Pro200fs		Somatic				CCDC153_ENST00000415318.1_Frame_Shift_Ins_p.R200fs	p.R200fs			WXS	Illumina GAIIx	Phase_I	Q494R4	CC153_HUMAN			6	598_599	-			200						Frame_Shift_Ins	INS	ENST00000503566.2	37	c.599_600insC	CCDS44753.1																																																																																				0.569	CCDC153-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388331.2	NM_001033658		15	284						15	284	---	---	---	---
OR10G8	219869	broad.mit.edu	37	11	123900396	123900397	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr11:123900396_123900397insC	ENST00000431524.1	+	1	100_101	c.67_68insC	c.(67-69)gccfs	p.A23fs		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	23						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A23T(1)		breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		AGCGCTGGACGCCCCCCTCTTT	0.589																																						ENST00000431524.1																			1	Substitution - Missense(1)	p.A23T(1)	endometrium(1)	breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						c.(67-69)cccfs		olfactory receptor, family 10, subfamily G, member 8																																				SO:0001589	frameshift_variant	219869				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123900396_123900397insC	AB065755	CCDS31704.1	11q24.1	2012-08-09			ENSG00000234560	ENSG00000234560		"""GPCR / Class A : Olfactory receptors"""	14845	protein-coding gene	gene with protein product							Standard	NM_001004464		Approved		uc001pzp.1	Q8NGN5	OTTHUMG00000165968	ENST00000431524.1:c.73dupC	11.37:g.123900402_123900402dupC	ENSP00000389072:p.Ala23fs		Somatic					p.P23fs	NM_001004464.1	NP_001004464.1	WXS	Illumina GAIIx	Phase_I	Q8NGN5	O10G8_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)	1	100_101	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	23					B2RNJ3|Q6IEV2	Frame_Shift_Ins	INS	ENST00000431524.1	37	c.67_68insC	CCDS31704.1																																																																																				0.589	OR10G8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387270.1	NM_001004464		8	682						8	682	---	---	---	---
ADAMTS8	11095	broad.mit.edu	37	11	130275723	130275724	+	Frame_Shift_Ins	INS	-	-	G	rs373860109		TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr11:130275723_130275724insG	ENST00000257359.6	-	9	3105_3106	c.2399_2400insC	c.(2398-2400)ccafs	p.P800fs		NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 8	800	Spacer.				negative regulation of cell proliferation (GO:0008285)|phosphate ion transmembrane transport (GO:0035435)	proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)|low-affinity phosphate transmembrane transporter activity (GO:0009673)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		ATTTGACTTTTGGGGGGAAGAC	0.579																																						ENST00000257359.6																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10						c.(2398-2400)caafs		ADAM metallopeptidase with thrombospondin type 1 motif, 8																																				SO:0001589	frameshift_variant	11095				negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding	g.chr11:130275723_130275724insG	AF060153	CCDS41732.1	11q25	2008-07-18	2005-08-19		ENSG00000134917	ENSG00000134917		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	224	protein-coding gene	gene with protein product		605175	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 8"""			10438512	Standard	NM_007037		Approved	METH2, FLJ41712, ADAM-TS8	uc001qgg.4	Q9UP79	OTTHUMG00000165656	ENST00000257359.6:c.2400dupC	11.37:g.130275729_130275729dupG	ENSP00000257359:p.Pro800fs		Somatic					p.Q800fs	NM_007037.4	NP_008968.4	WXS	Illumina GAIIx	Phase_I	Q9UP79	ATS8_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)	9	3105_3106	-	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	800			Spacer.		Q9NZS0	Frame_Shift_Ins	INS	ENST00000257359.6	37	c.2399_2400insC	CCDS41732.1																																																																																				0.579	ADAMTS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385636.1	NM_007037		9	640						9	640	---	---	---	---
NCAPD3	23310	broad.mit.edu	37	11	134048585	134048586	+	Frame_Shift_Ins	INS	-	-	G	rs138442478		TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr11:134048585_134048586insG	ENST00000534548.2	-	22	2789_2790	c.2725_2726insC	c.(2725-2727)cagfs	p.Q909fs	RP11-700F16.3_ENST00000531710.1_RNA	NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	909					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	germinal vesicle (GO:0042585)|membrane (GO:0016020)|nuclear condensin complex (GO:0000799)|nuclear pericentric heterochromatin (GO:0031618)|nucleoplasm (GO:0005654)	methylated histone binding (GO:0035064)	p.Q909fs*12(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		ACCTCTGACCTGGGGGGGTGGC	0.525																																						ENST00000534548.2																			1	Insertion - Frameshift(1)	p.Q909fs*12(1)	large_intestine(1)	NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(2725-2727)ggtfs		non-SMC condensin II complex, subunit D3																																				SO:0001589	frameshift_variant	23310				cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding	g.chr11:134048585_134048586insG	AK124878	CCDS31723.1	11q25	2008-02-04			ENSG00000151503	ENSG00000151503			28952	protein-coding gene	gene with protein product		609276				7584044, 8619474, 14532007	Standard	NM_015261		Approved	hCAP-D3, CAP-D3, hHCP-6, KIAA0056, FLJ42888, hcp-6	uc001qhd.1	P42695	OTTHUMG00000167172	ENST00000534548.2:c.2726dupC	11.37:g.134048592_134048592dupG	ENSP00000433681:p.Gln909fs		Somatic					p.G909fs	NM_015261.2	NP_056076.1	WXS	Illumina GAIIx	Phase_I	P42695	CNDD3_HUMAN		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)	22	2789_2790	-	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)	909					A6NFS2|Q4KMQ9	Frame_Shift_Ins	INS	ENST00000534548.2	37	c.2725_2726insC	CCDS31723.1																																																																																				0.525	NCAPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393575.2	NM_015261		10	150						10	150	---	---	---	---
VWF	7450	broad.mit.edu	37	12	6091108	6091109	+	Frame_Shift_Ins	INS	-	-	G	rs368646629|rs267607359|rs267607360		TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr12:6091108_6091109insG	ENST00000261405.5	-	42	7384_7385	c.7130_7131insC	c.(7129-7131)ccgfs	p.P2377fs		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	2377					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)	p.P2377P(1)		NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	GCAAACGGTGCGGGGGGCAGGA	0.604																																						ENST00000261405.5																			1	Substitution - coding silent(1)	p.P2377P(1)	kidney(1)	NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129	GRCh37	CI983256	VWF	I	rs61750632	c.(7129-7131)ccafs		von Willebrand factor	Antihemophilic Factor(DB00025)																																			SO:0001589	frameshift_variant	7450				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding	g.chr12:6091108_6091109insG		CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"""Endogenous ligands"""	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.7131dupC	12.37:g.6091114_6091114dupG	ENSP00000261405:p.Pro2377fs		Somatic					p.P2377fs	NM_000552.3	NP_000543.2	WXS	Illumina GAIIx	Phase_I	P04275	VWF_HUMAN			42	7384_7385	-			2377					Q8TCE8|Q99806	Frame_Shift_Ins	INS	ENST00000261405.5	37	c.7130_7131insC	CCDS8539.1																																																																																				0.604	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1	NM_000552		10	237						10	237	---	---	---	---
MRPL51	51258	broad.mit.edu	37	12	6602094	6602095	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr12:6602094_6602095insG	ENST00000229238.3	-	2	584_585	c.123_124insC	c.(121-126)cccaaafs	p.K42fs	NCAPD2_ENST00000315579.5_5'Flank|MRPL51_ENST00000543703.1_Intron|MRPL51_ENST00000543164.1_5'UTR|NCAPD2_ENST00000545962.1_5'Flank	NM_016497.3	NP_057581.2	Q4U2R6	RM51_HUMAN	mitochondrial ribosomal protein L51	42					translation (GO:0006412)	mitochondrial large ribosomal subunit (GO:0005762)|mitochondrial ribosome (GO:0005761)	structural constituent of ribosome (GO:0003735)			kidney(2)|large_intestine(1)|lung(3)	6						TCAACCACTTTGGGGGGCGGGA	0.51																																						ENST00000229238.3																			0				kidney(2)|large_intestine(1)|lung(3)	6						c.(121-126)ccaagtfs		mitochondrial ribosomal protein L51																																				SO:0001589	frameshift_variant	51258				translation	mitochondrial large ribosomal subunit	protein binding|structural constituent of ribosome	g.chr12:6602094_6602095insG	AB051355	CCDS8547.1	12p13.3-p13.1	2014-02-19	2002-01-07	2002-01-11		ENSG00000111639		"""Mitochondrial ribosomal proteins / large subunits"""	14044	protein-coding gene	gene with protein product		611855	"""mitochondrial ribosomal protein 64"""	MRP64		11551941, 11543634	Standard	NM_016497		Approved	CDA09, HSPC241, bMRP64	uc001qom.2	Q4U2R6		ENST00000229238.3:c.124dupC	12.37:g.6602100_6602100dupG	ENSP00000229238:p.Lys42fs		Somatic				MRPL51_ENST00000543164.1_5'UTR|MRPL51_ENST00000543703.1_Intron	p.S42fs	NM_016497.3	NP_057581.2	WXS	Illumina GAIIx	Phase_I	Q4U2R6	RM51_HUMAN			2	584_585	-			42					Q96Q57|Q9BQ36|Q9P0N7	Frame_Shift_Ins	INS	ENST00000229238.3	37	c.123_124insC	CCDS8547.1																																																																																				0.510	MRPL51-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399956.1	NM_016497		13	188						13	188	---	---	---	---
CD4	920	broad.mit.edu	37	12	6924042	6924043	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr12:6924042_6924043insG	ENST00000011653.4	+	5	749_750	c.491_492insG	c.(490-495)caggggfs	p.QG164fs	CD4_ENST00000538827.1_3'UTR|CD4_ENST00000541982.1_Frame_Shift_Ins_p.QG109fs	NM_000616.4|NM_001195015.2|NM_001195016.2|NM_001195017.2	NP_000607.1|NP_001181944.1|NP_001181945.1|NP_001181946.1	P01730	CD4_HUMAN	CD4 molecule	164	Ig-like C2-type 1.				cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cytokine production (GO:0001816)|defense response to Gram-negative bacterium (GO:0050829)|entry into host cell (GO:0030260)|enzyme linked receptor protein signaling pathway (GO:0007167)|immune response (GO:0006955)|induction by virus of host cell-cell fusion (GO:0006948)|innate immune response (GO:0045087)|maintenance of protein location in cell (GO:0032507)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase activity (GO:0045860)|protein palmitoleylation (GO:0045234)|regulation of defense response to virus by virus (GO:0050690)|regulation of T cell activation (GO:0050863)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)|T cell selection (GO:0045058)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|viral process (GO:0016032)	early endosome (GO:0005769)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	coreceptor activity (GO:0015026)|enzyme binding (GO:0019899)|extracellular matrix structural constituent (GO:0005201)|glycoprotein binding (GO:0001948)|MHC class II protein binding (GO:0042289)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	23		Myeloproliferative disorder(1001;0.0122)			Antithymocyte globulin(DB00098)	AAAAACATACAGGGGGGGAAGA	0.564																																						ENST00000011653.4																			0				breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	23						c.(490-492)cggfs		CD4 molecule																																				SO:0001589	frameshift_variant	920				cell adhesion|entry into host cell|immune response|induction by virus of host cell-cell fusion|initiation of viral infection|maintenance of protein location in cell|positive regulation of interleukin-2 biosynthetic process|positive regulation of protein kinase activity|protein palmitoleylation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|T cell selection|transmembrane receptor protein tyrosine kinase signaling pathway	early endosome|endoplasmic reticulum membrane|integral to membrane|T cell receptor complex	coreceptor activity|extracellular matrix structural constituent|glycoprotein binding|MHC class II protein binding|protein homodimerization activity|protein kinase binding|transmembrane receptor activity|zinc ion binding	g.chr12:6924042_6924043insG	M35160	CCDS8562.1	12p13.31	2013-01-11	2006-03-28		ENSG00000010610	ENSG00000010610		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	1678	protein-coding gene	gene with protein product		186940	"""CD4 antigen (p55)"", ""T-cell surface glycoprotein CD4"""				Standard	NM_000616		Approved		uc001qqv.2	P01730	OTTHUMG00000168514	ENST00000011653.4:c.498dupG	12.37:g.6924049_6924049dupG	ENSP00000011653:p.Gln164fs		Somatic				CD4_ENST00000541982.1_Frame_Shift_Ins_p.R109fs|CD4_ENST00000538827.1_3'UTR	p.R164fs	NM_000616.4|NM_001195015.2|NM_001195016.2|NM_001195017.2	NP_000607.1|NP_001181944.1|NP_001181945.1|NP_001181946.1	WXS	Illumina GAIIx	Phase_I	P01730	CD4_HUMAN			5	749_750	+		Myeloproliferative disorder(1001;0.0122)	164			Ig-like C2-type 1.		B2R737|D3DUS5|Q4ZGK2|Q5U066|Q9UDE5	Frame_Shift_Ins	INS	ENST00000011653.4	37	c.491_492insG	CCDS8562.1																																																																																				0.564	CD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399978.1	NM_000616		9	521						9	521	---	---	---	---
C1S	716	broad.mit.edu	37	12	7177938	7177939	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr12:7177938_7177939insC	ENST00000406697.1	+	15	2678_2679	c.2050_2051insC	c.(2050-2052)accfs	p.T684fs	C1S_ENST00000360817.5_Frame_Shift_Ins_p.T684fs|C1S_ENST00000402681.3_Frame_Shift_Ins_p.T517fs|C1S_ENST00000328916.3_Frame_Shift_Ins_p.T684fs			P09871	C1S_HUMAN	complement component 1, s subcomponent	684					complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	GGAAAATAGCACCCCCCGTGAG	0.49																																					GBM(156;750 1943 12971 24779 31015)	ENST00000406697.1																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33						c.(2050-2052)cccfs		complement component 1, s subcomponent	Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)																																			SO:0001589	frameshift_variant	716				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity	g.chr12:7177938_7177939insC		CCDS31735.1	12p13	2014-09-17			ENSG00000182326	ENSG00000182326	3.4.21.42	"""Complement system"""	1247	protein-coding gene	gene with protein product		120580					Standard	NM_201442		Approved		uc001qsl.3	P09871	OTTHUMG00000150305	ENST00000406697.1:c.2056dupC	12.37:g.7177944_7177944dupC	ENSP00000385035:p.Thr684fs		Somatic				C1S_ENST00000402681.3_Frame_Shift_Ins_p.P517fs|C1S_ENST00000360817.5_Frame_Shift_Ins_p.P684fs|C1S_ENST00000328916.3_Frame_Shift_Ins_p.P684fs	p.P684fs			WXS	Illumina GAIIx	Phase_I	P09871	C1S_HUMAN			15	2678_2679	+			684					D3DUT4|Q9UCU7|Q9UCU8|Q9UCU9|Q9UCV0|Q9UCV1|Q9UCV2|Q9UCV3|Q9UCV4|Q9UCV5|Q9UM14	Frame_Shift_Ins	INS	ENST00000406697.1	37	c.2050_2051insC	CCDS31735.1																																																																																				0.490	C1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317481.1	NM_001734		8	351						8	351	---	---	---	---
PRB1	5542	broad.mit.edu	37	12	11506884	11506885	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr12:11506884_11506885insG	ENST00000500254.2	-	3	189_190	c.152_153insC	c.(151-153)ccafs	p.P51fs	PRB1_ENST00000545626.1_Frame_Shift_Ins_p.P51fs|PRB1_ENST00000546254.1_Frame_Shift_Ins_p.P51fs	NM_005039.3|NM_199353.2	NP_005030.2|NP_955385.1	P04280	PRP1_HUMAN	proline-rich protein BstNI subfamily 1	0						extracellular region (GO:0005576)				NS(1)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20			OV - Ovarian serous cystadenocarcinoma(49;0.185)			CTGGAGGAGGTGGGGGGCCCTG	0.579																																						ENST00000500254.2																			0				NS(1)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20						c.(151-153)cccfs		proline-rich protein BstNI subfamily 1																																				SO:0001589	frameshift_variant	5542					extracellular region		g.chr12:11506884_11506885insG		CCDS8642.1, CCDS55805.1	12p13.2	2012-10-02							9337	protein-coding gene	gene with protein product		180989				8317492	Standard	NM_199353		Approved	PM, PMF, PMS, PRB1M, PRB1L	uc001qzu.1	P04280		ENST00000500254.2:c.153dupC	12.37:g.11506890_11506890dupG	ENSP00000420826:p.Pro51fs		Somatic				PRB1_ENST00000545626.1_Frame_Shift_Ins_p.P51fs|PRB1_ENST00000546254.1_Frame_Shift_Ins_p.P51fs	p.P51fs	NM_005039.3|NM_199353.2	NP_005030.2|NP_955385.1	WXS	Illumina GAIIx	Phase_I	P04280	PRP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;0.185)		3	189_190	-			234					Q08805|Q15186|Q15187|Q15214|Q15215|Q16038	Frame_Shift_Ins	INS	ENST00000500254.2	37	c.152_153insC	CCDS8642.1																																																																																				0.579	PRB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402312.1	NM_005039		7	592						7	592	---	---	---	---
HEBP1	50865	broad.mit.edu	37	12	13142224	13142225	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr12:13142224_13142225insC	ENST00000014930.4	-	2	361_362	c.203_204insG	c.(202-204)ggcfs	p.G68fs	HEBP1_ENST00000536942.1_Frame_Shift_Ins_p.G68fs	NM_015987.4	NP_057071.2	Q9NRV9	HEBP1_HUMAN	heme binding protein 1	68					circadian rhythm (GO:0007623)	cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	heme binding (GO:0020037)			breast(1)|endometrium(1)|large_intestine(3)|lung(1)|urinary_tract(1)	7		Prostate(47;0.183)		BRCA - Breast invasive adenocarcinoma(232;0.153)		TGTCATTGGTGCCCCCCGCATA	0.554																																						ENST00000536942.1																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(1)|urinary_tract(1)	7						c.(202-204)gacfs		heme binding protein 1																																				SO:0001589	frameshift_variant	50865				circadian rhythm	extracellular region		g.chr12:13142224_13142225insC	AF117615	CCDS31749.1	12p13.2	2014-01-30			ENSG00000013583	ENSG00000013583		"""Endogenous ligands"""	17176	protein-coding gene	gene with protein product		605826				10640688	Standard	NM_015987		Approved	HEBP, HBP	uc001rbd.3	Q9NRV9	OTTHUMG00000168771	ENST00000014930.4:c.204dupG	12.37:g.13142230_13142230dupC	ENSP00000014930:p.Gly68fs		Somatic				HEBP1_ENST00000014930.4_Frame_Shift_Ins_p.D68fs	p.D68fs			WXS	Illumina GAIIx	Phase_I	Q9NRV9	HEBP1_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.153)	2	353_354	-		Prostate(47;0.183)	68					A8K1G2|Q9Y5Z5	Frame_Shift_Ins	INS	ENST00000014930.4	37	c.203_204insG	CCDS31749.1																																																																																				0.554	HEBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401001.1			15	647						15	647	---	---	---	---
GRIN2B	2904	broad.mit.edu	37	12	14019043	14019044	+	Frame_Shift_Ins	INS	-	-	G	rs77738206|rs398122823		TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr12:14019043_14019044insG	ENST00000609686.1	-	2	308_309	c.99_100insC	c.(97-102)cccagcfs	p.S34fs		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	34					behavioral fear response (GO:0001662)|behavioral response to pain (GO:0048266)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|glutamate receptor signaling pathway (GO:0007215)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning (GO:0007612)|learning or memory (GO:0007611)|memory (GO:0007613)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|response to ethanol (GO:0045471)|sensory organ development (GO:0007423)|startle response (GO:0001964)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	ATGCCAATGCTGGGGGGGCTCT	0.589																																						ENST00000279593.3																			0				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143						c.(97-102)ccgcatfs		glutamate receptor, ionotropic, N-methyl D-aspartate 2B	Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)																																			SO:0001589	frameshift_variant	2904				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr12:14019043_14019044insG		CCDS8662.1	12p13.1	2014-07-16			ENSG00000273079			"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4586	protein-coding gene	gene with protein product		138252		NMDAR2B		1350383	Standard	NM_000834		Approved	GluN2B	uc001rbt.2	Q13224	OTTHUMG00000137373	ENST00000609686.1:c.100dupC	12.37:g.14019050_14019050dupG	ENSP00000477455:p.Ser34fs		Somatic					p.H34fs	NM_000834.3	NP_000825.2	WXS	Illumina GAIIx	Phase_I	Q13224	NMDE2_HUMAN			2	308_309	-			34					Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Frame_Shift_Ins	INS	ENST00000609686.1	37	c.99_100insC	CCDS8662.1																																																																																				0.589	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268014.2			9	118						9	118	---	---	---	---
AMHR2	269	broad.mit.edu	37	12	53819644	53819645	+	Frame_Shift_Ins	INS	-	-	G	rs374370282|rs369599312		TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr12:53819644_53819645insG	ENST00000257863.4	+	6	873_874	c.793_794insG	c.(793-795)cggfs	p.R265fs	AMHR2_ENST00000550311.1_Frame_Shift_Ins_p.R265fs|AMHR2_ENST00000379791.3_Frame_Shift_Ins_p.R265fs	NM_001164690.1|NM_020547.2	NP_001158162.1|NP_065434.1	Q16671	AMHR2_HUMAN	anti-Mullerian hormone receptor, type II	265	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				Mullerian duct regression (GO:0001880)|negative regulation of anti-Mullerian hormone signaling pathway (GO:1902613)|sex differentiation (GO:0007548)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)	integral component of plasma membrane (GO:0005887)	anti-Mullerian hormone receptor activity (GO:1990272)|ATP binding (GO:0005524)|hormone binding (GO:0042562)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta receptor activity, type II (GO:0005026)	p.R265W(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|skin(2)	34					Adenosine triphosphate(DB00171)	CACTGCCAGCCGGGGGGGTCCT	0.579																																						ENST00000257863.4																			1	Substitution - Missense(1)	p.R265W(1)	large_intestine(1)	breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|skin(2)	34						c.(793-795)gggfs		anti-Mullerian hormone receptor, type II	Adenosine triphosphate(DB00171)																																			SO:0001589	frameshift_variant	269				Mullerian duct regression		ATP binding|hormone binding|metal ion binding	g.chr12:53819644_53819645insG	AF172932	CCDS8858.1, CCDS53798.1, CCDS55829.1	12q13	2013-03-14							465	protein-coding gene	gene with protein product	"""Muellerian inhibiting substance type II receptor"""	600956				7493017	Standard	NM_001164690		Approved	MISR2, MISRII	uc001scx.2	Q16671	OTTHUMG00000170048	ENST00000257863.4:c.800dupG	12.37:g.53819651_53819651dupG	ENSP00000257863:p.Arg265fs		Somatic				AMHR2_ENST00000550311.1_Frame_Shift_Ins_p.G265fs|AMHR2_ENST00000379791.3_Frame_Shift_Ins_p.G265fs	p.G265fs	NM_001164690.1|NM_020547.2	NP_001158162.1|NP_065434.1	WXS	Illumina GAIIx	Phase_I	Q16671	AMHR2_HUMAN			6	873_874	+			265			Protein kinase.		A0AVE1|B9EGB7|E9PGD2|F8W1D2|Q13762|Q647K2	Frame_Shift_Ins	INS	ENST00000257863.4	37	c.793_794insG	CCDS8858.1																																																																																				0.579	AMHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407048.1	NM_020547		7	78						7	78	---	---	---	---
PCBP2	5094	broad.mit.edu	37	12	53856277	53856278	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr12:53856277_53856278insC	ENST00000439930.3	+	7	539_540	c.517_518insC	c.(517-519)tccfs	p.S173fs	PCBP2_ENST00000359282.5_Splice_Site_p.S169fs|PCBP2_ENST00000549863.1_Frame_Shift_Ins_p.S173fs|PCBP2_ENST00000541275.1_Splice_Site_p.S169fs|RP11-793H13.8_ENST00000547717.1_RNA|PCBP2_ENST00000455667.3_Splice_Site_p.S169fs|PCBP2_ENST00000447282.1_Frame_Shift_Ins_p.S173fs|PCBP2_ENST00000603815.1_Frame_Shift_Ins_p.S173fs|PCBP2_ENST00000548933.1_Frame_Shift_Ins_p.S173fs|PCBP2_ENST00000546463.1_Splice_Site_p.S169fs|PCBP2_ENST00000359462.5_Frame_Shift_Ins_p.S173fs|PCBP2_ENST00000552296.2_Splice_Site_p.S169fs|PCBP2_ENST00000552819.1_Frame_Shift_Ins_p.S173fs|PCBP2_ENST00000437231.1_Splice_Site_p.S169fs			Q15366	PCBP2_HUMAN	poly(rC) binding protein 2	173					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of defense response to virus (GO:0050687)|negative regulation of type I interferon production (GO:0032480)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15						TCTCTCCCAGTCCCCCCCGAAG	0.5																																						ENST00000603815.1																			0				central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15						c.(517-519)cccfs		poly(rC) binding protein 2																																				SO:0001589	frameshift_variant	5094				innate immune response|negative regulation of defense response to virus|negative regulation of type I interferon production|nuclear mRNA splicing, via spliceosome|proteasomal ubiquitin-dependent protein catabolic process|response to virus	cytosol|nucleoplasm|ribonucleoprotein complex	DNA binding|RNA binding|ubiquitin protein ligase binding	g.chr12:53856277_53856278insC	BC035420	CCDS8859.1, CCDS44900.1, CCDS44901.1, CCDS44902.1, CCDS44903.1, CCDS44904.1, CCDS55830.1	12q13.13	2013-10-30	2001-11-28		ENSG00000197111	ENSG00000197111			8648	protein-coding gene	gene with protein product	"""heterogenous nuclear ribonucleoprotein E2"""	601210	"""poly(rC)-binding protein 2"""			8833161	Standard	NM_001098620		Approved	HNRPE2, hnRNP-E2, HNRNPE2	uc001sdc.4	Q15366	OTTHUMG00000169439	ENST00000439930.3:c.524dupC	12.37:g.53856284_53856284dupC	ENSP00000408949:p.Ser173fs		Somatic				PCBP2_ENST00000359462.5_Frame_Shift_Ins_p.P173fs|PCBP2_ENST00000359282.5_Splice_Site_p.P169_splice|PCBP2_ENST00000546463.1_Splice_Site_p.P169_splice|PCBP2_ENST00000455667.3_Splice_Site_p.P169_splice|PCBP2_ENST00000447282.1_Frame_Shift_Ins_p.P173fs|PCBP2_ENST00000439930.3_Frame_Shift_Ins_p.P173fs|PCBP2_ENST00000437231.1_Splice_Site_p.P169_splice|PCBP2_ENST00000552819.1_Frame_Shift_Ins_p.P173fs|RP11-793H13.8_ENST00000547717.1_RNA|PCBP2_ENST00000541275.1_Splice_Site_p.P169_splice|PCBP2_ENST00000552296.2_Splice_Site_p.P169_splice|PCBP2_ENST00000549863.1_Frame_Shift_Ins_p.P173fs|PCBP2_ENST00000548933.1_Frame_Shift_Ins_p.P173fs	p.P173fs	NM_001128911.1|NM_001128912.1|NM_005016.5|NM_031989.4	NP_001122383.1|NP_001122384.1|NP_005007.2|NP_114366.1	WXS	Illumina GAIIx	Phase_I	Q15366	PCBP2_HUMAN			8	867_868	+			173					A8K7X6|F8VYL7|G3V0E8|I6L8F9|Q32Q82|Q59HD4|Q68Y55|Q6IPF4|Q6PKG5	Frame_Shift_Ins	INS	ENST00000439930.3	37	c.517_518insC	CCDS44901.1																																																																																				0.500	PCBP2-027	NOVEL	NAGNAG_splice_site|non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000407545.2	NM_005016		8	190						8	190	---	---	---	---
PDE1B	5153	broad.mit.edu	37	12	54971059	54971060	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr12:54971059_54971060insC	ENST00000243052.3	+	15	1994_1995	c.1558_1559insC	c.(1558-1560)gccfs	p.A520fs	PDE1B_ENST00000394277.3_3'UTR|PPP1R1A_ENST00000547431.1_3'UTR|PDE1B_ENST00000550620.1_Frame_Shift_Ins_p.A500fs|PDE1B_ENST00000538346.1_Frame_Shift_Ins_p.A479fs	NM_000924.3	NP_000915.1	Q01064	PDE1B_HUMAN	phosphodiesterase 1B, calmodulin-dependent	520					activation of phospholipase C activity (GO:0007202)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cGMP catabolic process (GO:0046069)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|locomotory behavior (GO:0007626)|monocyte differentiation (GO:0030224)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of dopamine metabolic process (GO:0042053)|regulation of neurotransmitter levels (GO:0001505)|response to amphetamine (GO:0001975)|serotonin metabolic process (GO:0042428)|signal transduction (GO:0007165)|visual learning (GO:0008542)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|calcium- and calmodulin-regulated 3',5'-cyclic-GMP phosphodiesterase activity (GO:0048101)|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|metal ion binding (GO:0046872)			endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4)	31					Bepridil(DB01244)|Caffeine(DB00201)|Felodipine(DB01023)|Nicardipine(DB00622)	TGAAGAAGAGGCCCCCCCATCC	0.559																																						ENST00000243052.3																			0				endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4)	31						c.(1558-1560)cccfs		phosphodiesterase 1B, calmodulin-dependent																																				SO:0001589	frameshift_variant	5153				activation of phospholipase C activity|apoptosis|nerve growth factor receptor signaling pathway|platelet activation	cytosol|nucleus	3',5'-cyclic-AMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr12:54971059_54971060insC	U56976	CCDS8882.1, CCDS53800.1, CCDS73477.1	12q13	2008-03-18				ENSG00000123360	3.1.4.17	"""Phosphodiesterases"""	8775	protein-coding gene	gene with protein product		171891		PDES1B		8855339, 9419816	Standard	NM_000924		Approved		uc001sgd.2	Q01064	OTTHUMG00000169844	ENST00000243052.3:c.1565dupC	12.37:g.54971066_54971066dupC	ENSP00000243052:p.Ala520fs		Somatic				PDE1B_ENST00000538346.1_Frame_Shift_Ins_p.P479fs|PDE1B_ENST00000394277.3_3'UTR|PDE1B_ENST00000550620.1_Frame_Shift_Ins_p.P500fs|PPP1R1A_ENST00000547431.1_3'UTR	p.P520fs	NM_000924.3	NP_000915.1	WXS	Illumina GAIIx	Phase_I	Q01064	PDE1B_HUMAN			15	1994_1995	+			520					Q92825|Q96KP3	Frame_Shift_Ins	INS	ENST00000243052.3	37	c.1558_1559insC	CCDS8882.1																																																																																				0.559	PDE1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406203.1			25	498						25	498	---	---	---	---
NEUROD4	58158	broad.mit.edu	37	12	55421127	55421128	+	Frame_Shift_Ins	INS	-	-	C	rs201995432		TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr12:55421127_55421128insC	ENST00000242994.3	+	2	1282_1283	c.904_905insC	c.(904-906)accfs	p.T302fs		NM_021191.2	NP_067014.2	Q9HD90	NDF4_HUMAN	neuronal differentiation 4	302					amacrine cell differentiation (GO:0035881)|cell fate commitment (GO:0045165)|glial cell differentiation (GO:0010001)|neuroblast proliferation (GO:0007405)|neuron development (GO:0048666)|neuron migration (GO:0001764)|Notch signaling pathway (GO:0007219)|positive regulation of cell differentiation (GO:0045597)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	41						TCAGGCTGGTACCCCCCGTTAT	0.465																																						ENST00000242994.3																			0				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	41						c.(904-906)cccfs		neuronal differentiation 4																																				SO:0001589	frameshift_variant	58158				amacrine cell differentiation|positive regulation of cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr12:55421127_55421128insC	AF203901	CCDS8886.1	12q13.13	2013-05-21	2012-02-22			ENSG00000123307		"""Basic helix-loop-helix proteins"""	13802	protein-coding gene	gene with protein product		611635	"""neurogenic differentiation 4"""				Standard	NM_021191		Approved	Atoh3, ATH-3, MATH-3, bHLHa4	uc001sgp.4	Q9HD90		ENST00000242994.3:c.910dupC	12.37:g.55421133_55421133dupC	ENSP00000242994:p.Thr302fs		Somatic					p.P302fs	NM_021191.2	NP_067014.2	WXS	Illumina GAIIx	Phase_I	Q9HD90	NDF4_HUMAN			2	1282_1283	+			302					B2RAC9	Frame_Shift_Ins	INS	ENST00000242994.3	37	c.904_905insC	CCDS8886.1																																																																																				0.465	NEUROD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406104.1			12	1107						12	1107	---	---	---	---
IKZF4	64375	broad.mit.edu	37	12	56429092	56429093	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr12:56429092_56429093insG	ENST00000262032.5	+	12	2102_2103	c.1735_1736insG	c.(1735-1737)cggfs	p.R579fs	RP11-603J24.4_ENST00000551846.1_RNA|IKZF4_ENST00000547167.1_Frame_Shift_Ins_p.R579fs|IKZF4_ENST00000431367.2_Frame_Shift_Ins_p.R477fs|IKZF4_ENST00000547791.1_Frame_Shift_Ins_p.R534fs			Q9H2S9	IKZF4_HUMAN	IKAROS family zinc finger 4 (Eos)	579					negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(2)|lung(3)|ovary(1)|prostate(1)	8			UCEC - Uterine corpus endometrioid carcinoma (6;0.025)|OV - Ovarian serous cystadenocarcinoma(18;0.123)			CCACATTGTCCGGGGGGAGCAT	0.554																																						ENST00000262032.5																			0				NS(1)|endometrium(2)|lung(3)|ovary(1)|prostate(1)	8						c.(1735-1737)gggfs		IKAROS family zinc finger 4 (Eos)																																				SO:0001589	frameshift_variant	64375				negative regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr12:56429092_56429093insG	AF230809	CCDS44917.1	12q13	2013-01-08	2006-08-25	2006-08-25		ENSG00000123411		"""Zinc fingers, C2H2-type"", ""IKAROS zinc fingers"""	13179	protein-coding gene	gene with protein product		606239	"""zinc finger protein, subfamily 1A, 4 (Eos)"""	ZNFN1A4		10978333	Standard	NM_022465		Approved	Eos	uc001sjc.1	Q9H2S9		ENST00000262032.5:c.1741dupG	12.37:g.56429098_56429098dupG	ENSP00000262032:p.Arg579fs		Somatic				IKZF4_ENST00000547791.1_Frame_Shift_Ins_p.G534fs|IKZF4_ENST00000547167.1_Frame_Shift_Ins_p.G579fs|RP11-603J24.4_ENST00000551846.1_RNA|IKZF4_ENST00000431367.2_Frame_Shift_Ins_p.G477fs	p.G579fs			WXS	Illumina GAIIx	Phase_I	Q9H2S9	IKZF4_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (6;0.025)|OV - Ovarian serous cystadenocarcinoma(18;0.123)		12	2102_2103	+			579					Q96JP3	Frame_Shift_Ins	INS	ENST00000262032.5	37	c.1735_1736insG	CCDS44917.1																																																																																				0.554	IKZF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407590.1	NM_022465		10	674						10	674	---	---	---	---
STAT2	6773	broad.mit.edu	37	12	56742816	56742817	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr12:56742816_56742817insG	ENST00000314128.4	-	17	1490_1491	c.1467_1468insC	c.(1465-1470)cccaagfs	p.K490fs	STAT2_ENST00000418572.2_3'UTR|STAT2_ENST00000557235.1_Frame_Shift_Ins_p.K486fs|STAT2_ENST00000556539.1_5'UTR			P52630	STAT2_HUMAN	signal transducer and activator of transcription 2, 113kDa	490					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|JAK-STAT cascade (GO:0007259)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3)	31						CAGGGGGCCTTGGGGGGGTTGG	0.594																																						ENST00000314128.4																			0				NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3)	31						c.(1465-1470)ccaggcfs		signal transducer and activator of transcription 2, 113kDa																																				SO:0001589	frameshift_variant	6773				interspecies interaction between organisms|JAK-STAT cascade|regulation of transcription from RNA polymerase II promoter|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	cytosol|nucleoplasm|plasma membrane	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr12:56742816_56742817insG	BC051284	CCDS8917.1, CCDS55836.1	12q13.2	2013-02-14	2002-08-29			ENSG00000170581		"""SH2 domain containing"""	11363	protein-coding gene	gene with protein product		600556	"""signal transducer and activator of transcription 2, 113kD"""			7885841	Standard	NM_005419		Approved	STAT113	uc001slc.3	P52630		ENST00000314128.4:c.1468dupC	12.37:g.56742823_56742823dupG	ENSP00000315768:p.Lys490fs		Somatic				STAT2_ENST00000418572.2_3'UTR|STAT2_ENST00000557235.1_Frame_Shift_Ins_p.G486fs|STAT2_ENST00000556539.1_5'UTR	p.G490fs			WXS	Illumina GAIIx	Phase_I	P52630	STAT2_HUMAN			17	1490_1491	-			490					B4DLC7|G3V2M6|Q16430|Q16431|Q9UDL4	Frame_Shift_Ins	INS	ENST00000314128.4	37	c.1467_1468insC	CCDS8917.1																																																																																				0.594	STAT2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410277.1	NM_005419		14	231						14	231	---	---	---	---
BAZ2A	11176	broad.mit.edu	37	12	57009177	57009178	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr12:57009177_57009178insC	ENST00000551812.1	-	3	549_550	c.356_357insG	c.(355-357)ggafs	p.G119fs	BAZ2A_ENST00000179765.5_Frame_Shift_Ins_p.G117fs|BAZ2A_ENST00000549884.1_Frame_Shift_Ins_p.G117fs|BAZ2A_ENST00000379441.3_Frame_Shift_Ins_p.G119fs	NM_013449.3	NP_038477.2	Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	119					chromatin remodeling (GO:0006338)|chromatin silencing at rDNA (GO:0000183)|DNA methylation (GO:0006306)|heterochromatin assembly involved in chromatin silencing (GO:0070869)|histone deacetylation (GO:0016575)|histone H3-K9 methylation (GO:0051567)|histone H4 deacetylation (GO:0070933)|histone H4-K20 methylation (GO:0034770)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromatin silencing complex (GO:0005677)|nucleolus (GO:0005730)|rDNA heterochromatin (GO:0033553)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|lysine-acetylated histone binding (GO:0070577)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						GTGGGTATTGTCCCCCCGAGAA	0.584																																						ENST00000179765.5																			0				breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						c.(349-351)gcafs		bromodomain adjacent to zinc finger domain, 2A																																				SO:0001589	frameshift_variant	11176				chromatin silencing at rDNA|DNA methylation|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	DNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|RNA binding|zinc ion binding	g.chr12:57009177_57009178insC	AB032254	CCDS44924.1, CCDS73483.1	12q13.3	2013-01-28				ENSG00000076108		"""Zinc fingers, PHD-type"""	962	protein-coding gene	gene with protein product	"""TTF-I interacting peptide 5"""	605682				10662543, 11532953	Standard	XM_005268596		Approved	KIAA0314, TIP5, WALp3	uc001slq.1	Q9UIF9	OTTHUMG00000170332	ENST00000551812.1:c.357dupG	12.37:g.57009183_57009183dupC	ENSP00000446880:p.Gly119fs		Somatic				BAZ2A_ENST00000379441.3_Frame_Shift_Ins_p.A119fs|BAZ2A_ENST00000551812.1_Frame_Shift_Ins_p.A119fs|BAZ2A_ENST00000549884.1_Frame_Shift_Ins_p.A117fs	p.A117fs			WXS	Illumina GAIIx	Phase_I	Q9UIF9	BAZ2A_HUMAN			3	549_550	-			119					B3KN66|O00536|O15030|Q68DI8|Q96H26	Frame_Shift_Ins	INS	ENST00000551812.1	37	c.350_351insG	CCDS44924.1																																																																																				0.584	BAZ2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408561.1	NM_013449		7	292						7	292	---	---	---	---
LRP1	4035	broad.mit.edu	37	12	57572241	57572242	+	Frame_Shift_Ins	INS	-	-	G	rs139915490		TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr12:57572241_57572242insG	ENST00000243077.3	+	27	4927_4928	c.4461_4462insG	c.(4462-4464)gggfs	p.G1488fs		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	1488					aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	TGACGCTGTACGGGGGGGAGGT	0.589																																						ENST00000243077.3																			0				NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184						c.(4459-4464)taggggfs		low density lipoprotein receptor-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)																																			SO:0001589	frameshift_variant	4035				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	g.chr12:57572241_57572242insG	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.4468dupG	12.37:g.57572248_57572248dupG	ENSP00000243077:p.Gly1488fs		Somatic					p.*G1487fs	NM_002332.2	NP_002323.2	WXS	Illumina GAIIx	Phase_I	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	27	4927_4928	+			1487					Q2PP12|Q86SW0|Q8IVG8	Frame_Shift_Ins	INS	ENST00000243077.3	37	c.4461_4462insG	CCDS8932.1																																																																																				0.589	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		8	134						8	134	---	---	---	---
GLI1	2735	broad.mit.edu	37	12	57860074	57860075	+	Frame_Shift_Ins	INS	-	-	G	rs368789621		TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr12:57860074_57860075insG	ENST00000228682.2	+	8	905_906	c.814_815insG	c.(814-816)tggfs	p.W272fs	GLI1_ENST00000543426.1_Frame_Shift_Ins_p.W144fs|GLI1_ENST00000546141.1_Frame_Shift_Ins_p.W231fs	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	272					cerebellar cortex morphogenesis (GO:0021696)|digestive tract morphogenesis (GO:0048546)|dorsal/ventral pattern formation (GO:0009953)|epidermal cell differentiation (GO:0009913)|lung development (GO:0030324)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|notochord regression (GO:0060032)|osteoblast differentiation (GO:0001649)|pituitary gland development (GO:0021983)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proximal/distal pattern formation (GO:0009954)|regulation of smoothened signaling pathway (GO:0008589)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation (GO:0021938)|spermatogenesis (GO:0007283)|ventral midline development (GO:0007418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|primary cilium (GO:0072372)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			CGTGTGCCACTGGGGGGGCTGC	0.599																																					Pancreas(157;841 1936 10503 41495 50368)	ENST00000228682.2																			0				NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69						c.(814-816)gggfs		GLI family zinc finger 1																																				SO:0001589	frameshift_variant	2735				epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding	g.chr12:57860074_57860075insG		CCDS8940.1, CCDS53806.1, CCDS53807.1	12q13.2-q13.3	2013-01-25	2009-03-05	2005-01-14		ENSG00000111087		"""Zinc fingers, C2H2-type"""	4317	protein-coding gene	gene with protein product		165220	"""glioma-associated oncogene homolog 1 (zinc finger protein)"", ""glioma-associated oncogene family zinc finger 1"""	GLI		2850480	Standard	NM_005269		Approved		uc001snx.3	P08151		ENST00000228682.2:c.821dupG	12.37:g.57860081_57860081dupG	ENSP00000228682:p.Trp272fs		Somatic				GLI1_ENST00000546141.1_Frame_Shift_Ins_p.G231fs|GLI1_ENST00000543426.1_Frame_Shift_Ins_p.G144fs	p.G272fs	NM_005269.2	NP_005260.1	WXS	Illumina GAIIx	Phase_I	P08151	GLI1_HUMAN	GBM - Glioblastoma multiforme(3;3.99e-32)		8	905_906	+			272					D0EUY3|E9PQQ9|F5H6H8|Q8TDN9	Frame_Shift_Ins	INS	ENST00000228682.2	37	c.814_815insG	CCDS8940.1																																																																																				0.599	GLI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394197.1	NM_005269		38	626						38	626	---	---	---	---
DCTN2	10540	broad.mit.edu	37	12	57927805	57927806	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr12:57927805_57927806insG	ENST00000548249.1	-	7	866_867	c.599_600insC	c.(598-600)ccafs	p.P200fs	DCTN2_ENST00000537439.1_Frame_Shift_Ins_p.P177fs|DCTN2_ENST00000551400.1_5'Flank|DCTN2_ENST00000434715.3_Frame_Shift_Ins_p.P205fs|DCTN2_ENST00000543672.1_Frame_Shift_Ins_p.P205fs	NM_001261412.1|NM_001261413.1	NP_001248341.1|NP_001248342.1	Q13561	DCTN2_HUMAN	dynactin 2 (p50)	200					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell proliferation (GO:0008283)|G2/M transition of mitotic cell cycle (GO:0000086)|melanosome transport (GO:0032402)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dynactin complex (GO:0005869)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|vesicle (GO:0031982)	motor activity (GO:0003774)|spectrin binding (GO:0030507)			endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|upper_aerodigestive_tract(2)	11						GGCTGCTATCTGGGGGGGTCCC	0.5																																						ENST00000548249.1																			0				endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|upper_aerodigestive_tract(2)	11						c.(598-600)cgafs		dynactin 2 (p50)																																				SO:0001589	frameshift_variant	10540				cell proliferation|G2/M transition of mitotic cell cycle|mitosis	centrosome|cytosol|dynactin complex|dynein complex|kinetochore|membrane|microtubule|vesicle	motor activity|protein binding	g.chr12:57927805_57927806insG	U50733	CCDS44930.1, CCDS58245.1, CCDS73489.1	12q13.3	2008-05-14				ENSG00000175203			2712	protein-coding gene	gene with protein product		607376				8647893	Standard	NM_001261412		Approved	RBP50, DCTN-50	uc001som.2	Q13561	OTTHUMG00000170124	ENST00000548249.1:c.600dupC	12.37:g.57927812_57927812dupG	ENSP00000447824:p.Pro200fs		Somatic				DCTN2_ENST00000543672.1_Frame_Shift_Ins_p.R205fs|DCTN2_ENST00000537439.1_Frame_Shift_Ins_p.R177fs|DCTN2_ENST00000434715.3_Frame_Shift_Ins_p.R205fs	p.R200fs	NM_001261412.1|NM_001261413.1	NP_001248341.1|NP_001248342.1	WXS	Illumina GAIIx	Phase_I	Q13561	DCTN2_HUMAN			7	866_867	-			200					B2RBK5|Q86YN2|Q9BW17	Frame_Shift_Ins	INS	ENST00000548249.1	37	c.599_600insC	CCDS58245.1																																																																																				0.500	DCTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407393.2	NM_006400		24	695						24	695	---	---	---	---
KIF5A	3798	broad.mit.edu	37	12	57972047	57972048	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr12:57972047_57972048insG	ENST00000455537.2	+	23	2734_2735	c.2460_2461insG	c.(2461-2463)gggfs	p.G821fs	KIF5A_ENST00000286452.5_Frame_Shift_Ins_p.G732fs	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	821					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|protein localization (GO:0008104)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						CCGAAGACAGTGGGGGGATTCA	0.505																																						ENST00000455537.2																			0				breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						c.(2458-2463)agggggfs		kinesin family member 5A																																				SO:0001589	frameshift_variant	3798				blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity	g.chr12:57972047_57972048insG	U06698	CCDS8945.1	12q13.13	2011-07-15	2004-02-13			ENSG00000155980		"""Kinesins"""	6323	protein-coding gene	gene with protein product		602821	"""spastic paraplegia 10 (autosomal dominant)"""	SPG10		9858832, 10441583, 16489470	Standard	NM_004984		Approved	D12S1889, NKHC, MY050	uc001sor.1	Q12840	OTTHUMG00000170143	ENST00000455537.2:c.2466dupG	12.37:g.57972053_57972053dupG	ENSP00000408979:p.Gly821fs		Somatic				KIF5A_ENST00000286452.5_Frame_Shift_Ins_p.RG731fs	p.RG820fs	NM_004984.2	NP_004975.2	WXS	Illumina GAIIx	Phase_I	Q12840	KIF5A_HUMAN			23	2734_2735	+			820					A6H8M5|Q4LE26	Frame_Shift_Ins	INS	ENST00000455537.2	37	c.2460_2461insG	CCDS8945.1																																																																																				0.505	KIF5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407634.1	NM_004984		8	1322						8	1322	---	---	---	---
PIP4K2C	79837	broad.mit.edu	37	12	57995030	57995031	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr12:57995030_57995031insC	ENST00000354947.5	+	9	1100_1101	c.1084_1085insC	c.(1084-1086)gccfs	p.A362fs	PIP4K2C_ENST00000540759.2_Frame_Shift_Ins_p.A362fs|PIP4K2C_ENST00000550465.1_Frame_Shift_Ins_p.A344fs|PIP4K2C_ENST00000422156.3_Frame_Shift_Ins_p.A314fs			Q8TBX8	PI42C_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, gamma	362	PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	1-phosphatidylinositol-5-phosphate 4-kinase activity (GO:0016309)|ATP binding (GO:0005524)|identical protein binding (GO:0042802)			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(13)|pancreas(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Melanoma(17;0.122)					TCTCCCAGGAGCCCCCCAGAAG	0.475																																						ENST00000354947.5																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(13)|pancreas(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						c.(1084-1086)cccfs		phosphatidylinositol-5-phosphate 4-kinase, type II, gamma																																				SO:0001589	frameshift_variant	79837					cytoplasm|membrane	1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|identical protein binding	g.chr12:57995030_57995031insC	AK125526	CCDS8946.1, CCDS53808.1, CCDS55839.1	12q13.3	2014-09-04	2007-08-14	2007-08-14	ENSG00000166908	ENSG00000166908			23786	protein-coding gene	gene with protein product			"""phosphatidylinositol-4-phosphate 5-kinase, type II, gamma"""	PIP5K2C		9367159	Standard	NM_024779		Approved	FLJ22055	uc001sot.3	Q8TBX8	OTTHUMG00000170144	ENST00000354947.5:c.1090dupC	12.37:g.57995036_57995036dupC	ENSP00000347032:p.Ala362fs		Somatic				PIP4K2C_ENST00000540759.2_Frame_Shift_Ins_p.P362fs|PIP4K2C_ENST00000550465.1_Frame_Shift_Ins_p.P344fs|PIP4K2C_ENST00000422156.3_Frame_Shift_Ins_p.P314fs	p.P362fs			WXS	Illumina GAIIx	Phase_I	Q8TBX8	PI42C_HUMAN			9	1100_1101	+	Melanoma(17;0.122)		362			PIPK.		B2RDL3|B4DM11|B4DY44|Q9H6N2	Frame_Shift_Ins	INS	ENST00000354947.5	37	c.1084_1085insC	CCDS8946.1																																																																																				0.475	PIP4K2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407644.1	NM_024779		10	360						10	360	---	---	---	---
MDM2	4193	broad.mit.edu	37	12	69233089	69233090	+	Frame_Shift_Ins	INS	-	-	C	rs577942747		TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr12:69233089_69233090insC	ENST00000350057.5	+	9	861_862	c.861_862insC	c.(862-864)cccfs	p.P288fs	MDM2_ENST00000393410.1_Frame_Shift_Ins_p.P65fs|MDM2_ENST00000356290.4_Frame_Shift_Ins_p.P143fs|MDM2_ENST00000258149.5_Frame_Shift_Ins_p.P258fs|MDM2_ENST00000393413.3_Frame_Shift_Ins_p.P40fs|MDM2_ENST00000299252.4_Frame_Shift_Ins_p.P143fs|MDM2_ENST00000360430.2_Frame_Shift_Ins_p.P118fs|MDM2_ENST00000393412.3_Frame_Shift_Ins_p.P40fs|MDM2_ENST00000462284.1_Frame_Shift_Ins_p.P319fs|MDM2_ENST00000258148.7_Frame_Shift_Ins_p.P264fs|MDM2_ENST00000545204.1_Intron|MDM2_ENST00000544561.1_Intron|MDM2_ENST00000478070.1_3'UTR|MDM2_ENST00000348801.2_Frame_Shift_Ins_p.P87fs|MDM2_ENST00000517852.1_Intron|MDM2_ENST00000428863.2_Frame_Shift_Ins_p.P92fs|RP11-611O2.5_ENST00000553141.1_RNA|MDM2_ENST00000540827.1_Frame_Shift_Ins_p.P118fs			Q00987	MDM2_HUMAN	MDM2 proto-oncogene, E3 ubiquitin protein ligase	313	ARF-binding.|Asp/Glu-rich (acidic).|Interaction with MTBP. {ECO:0000250}.|Necessary for interaction with USP2.|Region II.				cellular response to acid chemical (GO:0071229)|cellular response to alkaloid (GO:0071312)|cellular response to antibiotic (GO:0071236)|cellular response to estrogen stimulus (GO:0071391)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|cellular response to peptide hormone stimulus (GO:0071375)|cellular response to UV-C (GO:0071494)|cellular response to vitamin B1 (GO:0071301)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|epidermal growth factor receptor signaling pathway (GO:0007173)|establishment of protein localization (GO:0045184)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of protein processing (GO:0010955)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-lysine modification (GO:0018205)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein export from nucleus (GO:0046827)|protein complex assembly (GO:0006461)|protein destabilization (GO:0031648)|protein localization to nucleus (GO:0034504)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of protein catabolic process (GO:0042176)|response to antibiotic (GO:0046677)|response to carbohydrate (GO:0009743)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to ether (GO:0045472)|response to iron ion (GO:0010039)|response to magnesium ion (GO:0032026)|response to morphine (GO:0043278)|synaptic transmission (GO:0007268)|traversing start control point of mitotic cell cycle (GO:0007089)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synapse (GO:0045202)	enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|ligase activity (GO:0016874)|p53 binding (GO:0002039)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(8)|prostate(1)|urinary_tract(1)	19	all_cancers(1;8.46e-121)|all_epithelial(5;3.21e-36)|Lung NSC(4;2.16e-33)|all_lung(4;3.03e-31)|Glioma(1;1.9e-09)|Breast(13;1.59e-06)|all_neural(1;1.03e-05)|Melanoma(1;0.0171)|Renal(347;0.0684)		all cancers(2;8.67e-65)|GBM - Glioblastoma multiforme(2;8.89e-62)|BRCA - Breast invasive adenocarcinoma(5;2.43e-08)|Lung(24;1.5e-05)|LUAD - Lung adenocarcinoma(15;8.5e-05)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)			ATGAAATGAATCCCCCCCTTCC	0.426			A		"""sarcoma, glioma, colorectal, other"""																																	ENST00000462284.1				Dom	yes		12	12q15	4193	A	Mdm2 p53 binding protein homolog			"""M, O, E, L"""			"""sarcoma, glioma, colorectal, other"""		0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(8)|prostate(1)|urinary_tract(1)	19						c.(952-957)aaccccfs		MDM2 oncogene, E3 ubiquitin protein ligase																																				SO:0001589	frameshift_variant	4193				cellular response to hypoxia|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|establishment of protein localization|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell cycle arrest|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein complex assembly|protein destabilization|protein localization to nucleus|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to antibiotic|synaptic transmission	cytosol|endocytic vesicle membrane|insoluble fraction|nucleolus|nucleoplasm|plasma membrane|protein complex	enzyme binding|identical protein binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr12:69233089_69233090insC		CCDS8986.2, CCDS61189.1	12q13-q14	2014-06-26	2014-06-26		ENSG00000135679	ENSG00000135679			6973	protein-coding gene	gene with protein product		164785	"""mouse double minute 2, human homolog of; p53-binding protein"", ""Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse)"", ""Mdm2 p53 binding protein homolog (mouse)"""			1614537, 16905769	Standard	NM_002392		Approved	HDM2, MGC5370	uc001sui.4	Q00987	OTTHUMG00000142827	ENST00000350057.5:c.868dupC	12.37:g.69233096_69233096dupC	ENSP00000266624:p.Pro288fs		Somatic				MDM2_ENST00000393412.3_Frame_Shift_Ins_p.NP39fs|MDM2_ENST00000258148.7_Frame_Shift_Ins_p.NP263fs|MDM2_ENST00000393413.3_Frame_Shift_Ins_p.NP39fs|MDM2_ENST00000360430.2_Frame_Shift_Ins_p.NP117fs|MDM2_ENST00000356290.4_Frame_Shift_Ins_p.NP142fs|MDM2_ENST00000350057.5_Frame_Shift_Ins_p.NP287fs|MDM2_ENST00000348801.2_Frame_Shift_Ins_p.NP86fs|MDM2_ENST00000299252.4_Frame_Shift_Ins_p.NP142fs|MDM2_ENST00000258149.5_Frame_Shift_Ins_p.NP257fs|MDM2_ENST00000545204.1_Intron|MDM2_ENST00000544561.1_Intron|MDM2_ENST00000540827.1_Frame_Shift_Ins_p.NP117fs|MDM2_ENST00000517852.1_Intron|MDM2_ENST00000478070.1_3'UTR|MDM2_ENST00000428863.2_Frame_Shift_Ins_p.NP91fs|MDM2_ENST00000393410.1_Frame_Shift_Ins_p.NP64fs	p.NP318fs	NM_002392.4	NP_002383.2	WXS	Illumina GAIIx	Phase_I	Q00987	MDM2_HUMAN	all cancers(2;8.67e-65)|GBM - Glioblastoma multiforme(2;8.89e-62)|BRCA - Breast invasive adenocarcinoma(5;2.43e-08)|Lung(24;1.5e-05)|LUAD - Lung adenocarcinoma(15;8.5e-05)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)		11	1256_1257	+	all_cancers(1;8.46e-121)|all_epithelial(5;3.21e-36)|Lung NSC(4;2.16e-33)|all_lung(4;3.03e-31)|Glioma(1;1.9e-09)|Breast(13;1.59e-06)|all_neural(1;1.03e-05)|Melanoma(1;0.0171)|Renal(347;0.0684)		312			Necessary for interaction with USP2.|Region II.		A6NL51|A8K2S6|Q13226|Q13297|Q13298|Q13299|Q13300|Q13301|Q53XW0|Q71TW9|Q8WYJ1|Q8WYJ2|Q9UGI3|Q9UMT8	Frame_Shift_Ins	INS	ENST00000350057.5	37	c.954_955insC																																																																																					0.426	MDM2-033	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000402665.1	NM_006880		12	416						12	416	---	---	---	---
NAV3	89795	broad.mit.edu	37	12	78400511	78400512	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr12:78400511_78400512insC	ENST00000397909.2	+	8	1366_1367	c.1193_1194insC	c.(1192-1197)cgccccfs	p.RP398fs	NAV3_ENST00000228327.6_Frame_Shift_Ins_p.RP398fs|NAV3_ENST00000536525.2_Frame_Shift_Ins_p.RP398fs|NAV3_ENST00000266692.7_Frame_Shift_Ins_p.RP398fs			Q8IVL0	NAV3_HUMAN	neuron navigator 3	398						membrane (GO:0016020)|nuclear envelope (GO:0005635)				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						ACTGCTTTACGCCCCCCGCAGC	0.495										HNSCC(70;0.22)																												ENST00000397909.2																			0				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						c.(1192-1194)cccfs		neuron navigator 3				2,3746		0,2,1872						4.8	1.0			90	1,7917		0,1,3958	no	frameshift	NAV3	NM_014903.4		0,3,5830	A1A1,A1R,RR		0.0126,0.0534,0.0257				3,11663				SO:0001589	frameshift_variant	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78400511_78400512insC	AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.1199dupC	12.37:g.78400517_78400517dupC	ENSP00000381007:p.Arg398fs	HNSCC(70;0.22)	Somatic				NAV3_ENST00000266692.7_Frame_Shift_Ins_p.P398fs|NAV3_ENST00000536525.2_Frame_Shift_Ins_p.P398fs|NAV3_ENST00000228327.6_Frame_Shift_Ins_p.P398fs	p.P398fs			WXS	Illumina GAIIx	Phase_I	Q8IVL0	NAV3_HUMAN			8	1366_1367	+			398					Q8NFW7|Q9Y2E7	Frame_Shift_Ins	INS	ENST00000397909.2	37	c.1193_1194insC																																																																																					0.495	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		10	252						10	252	---	---	---	---
UHRF1BP1L	23074	broad.mit.edu	37	12	100451839	100451840	+	Frame_Shift_Ins	INS	-	-	G	rs550401137		TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr12:100451839_100451840insG	ENST00000279907.7	-	14	3427_3428	c.3215_3216insC	c.(3214-3216)ccafs	p.P1072fs	UHRF1BP1L_ENST00000545232.2_Frame_Shift_Ins_p.P722fs	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	1072										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						GTGTTCTAACTGGGGGGGTCTC	0.371																																						ENST00000279907.7																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						c.(3214-3216)cgtfs		UHRF1 binding protein 1-like																																				SO:0001589	frameshift_variant	23074							g.chr12:100451839_100451840insG		CCDS31882.1, CCDS31883.1	12q23.1	2011-04-15	2008-08-15		ENSG00000111647	ENSG00000111647			29102	protein-coding gene	gene with protein product							Standard	XM_005268737		Approved	KIAA0701	uc001tgq.3	A0JNW5	OTTHUMG00000170195	ENST00000279907.7:c.3216dupC	12.37:g.100451846_100451846dupG	ENSP00000279907:p.Pro1072fs		Somatic				UHRF1BP1L_ENST00000545232.2_Frame_Shift_Ins_p.R722fs	p.R1072fs	NM_015054.1	NP_055869.1	WXS	Illumina GAIIx	Phase_I	A0JNW5	UH1BL_HUMAN			14	3427_3428	-			1072					A0PJE5|O75183|Q8NDL1|Q96C30|Q9BTS5|Q9H0F1	Frame_Shift_Ins	INS	ENST00000279907.7	37	c.3215_3216insC	CCDS31882.1																																																																																				0.371	UHRF1BP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407875.1	NM_001006947		38	601						38	601	---	---	---	---
C12orf42	374470	broad.mit.edu	37	12	103695959	103695960	+	Frame_Shift_Ins	INS	-	-	G	rs182234129|rs185386009		TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr12:103695959_103695960insG	ENST00000378113.2	-	6	1234_1235	c.1009_1010insC	c.(1009-1011)cgcfs	p.R337fs	C12orf42_ENST00000548048.1_Frame_Shift_Ins_p.R270fs|C12orf42_ENST00000548883.1_Frame_Shift_Ins_p.R337fs|C12orf42_ENST00000315192.8_Intron	NM_001099336.1	NP_001092806.1	Q96LP6	CL042_HUMAN	chromosome 12 open reading frame 42	337										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)	22						CCGGGTTGGGCGGGGGGGTGCT	0.584																																						ENST00000548048.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)	22						c.(808-810)cccfs		chromosome 12 open reading frame 42																																				SO:0001589	frameshift_variant	374470							g.chr12:103695959_103695960insG	AK058052	CCDS44963.1	12q23.2	2012-05-30			ENSG00000179088	ENSG00000179088			24729	protein-coding gene	gene with protein product							Standard	NM_001099336		Approved	FLJ25323	uc001tjt.2	Q96LP6	OTTHUMG00000169988	ENST00000378113.2:c.1010dupC	12.37:g.103695966_103695966dupG	ENSP00000367353:p.Arg337fs		Somatic				C12orf42_ENST00000548883.1_Frame_Shift_Ins_p.P337fs|C12orf42_ENST00000378113.2_Frame_Shift_Ins_p.P337fs|C12orf42_ENST00000315192.8_Intron	p.P270fs			WXS	Illumina GAIIx	Phase_I	Q96LP6	CL042_HUMAN			9	1304_1305	-			337					Q49A64|Q4G0S2	Frame_Shift_Ins	INS	ENST00000378113.2	37	c.808_809insC	CCDS44963.1																																																																																				0.584	C12orf42-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406754.1	NM_198521		20	414						20	414	---	---	---	---
TCHP	84260	broad.mit.edu	37	12	110344434	110344435	+	Frame_Shift_Ins	INS	-	-	A			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr12:110344434_110344435insA	ENST00000312777.5	+	5	728_729	c.514_515insA	c.(514-516)gaafs	p.E172fs	TCHP_ENST00000405876.4_Frame_Shift_Ins_p.E172fs	NM_032300.4	NP_115676.1			trichoplein, keratin filament binding											NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|skin(2)	22						GCAGAAAGAAGAAAAAAAACAG	0.48																																						ENST00000312777.5																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|skin(2)	22						c.(514-516)aaafs		trichoplein, keratin filament binding																																				SO:0001589	frameshift_variant	84260				apoptosis|negative regulation of cell growth	apical cortex|centrosome|keratin filament|mitochondrion|plasma membrane	protein binding	g.chr12:110344434_110344435insA	AK092736	CCDS9137.1	12q24.11	2011-08-25	2006-01-27			ENSG00000139437			28135	protein-coding gene	gene with protein product	"""mitostatin"""	612654				15731013, 20930847	Standard	NM_032300		Approved	MGC10854, TpMs	uc001tpn.3	Q9BT92		ENST00000312777.5:c.522dupA	12.37:g.110344442_110344442dupA	ENSP00000324404:p.Glu172fs		Somatic				TCHP_ENST00000405876.4_Frame_Shift_Ins_p.K172fs	p.K172fs	NM_032300.4	NP_115676.1	WXS	Illumina GAIIx	Phase_I	Q9BT92	TCHP_HUMAN			5	728_729	+			172			Glu-rich.|Interaction with keratin proteins.			Frame_Shift_Ins	INS	ENST00000312777.5	37	c.514_515insA	CCDS9137.1																																																																																				0.480	TCHP-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403289.1	NM_032300		8	374						8	374	---	---	---	---
TBX5	6910	broad.mit.edu	37	12	114793735	114793736	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr12:114793735_114793736insG	ENST00000310346.4	-	9	1824_1825	c.1158_1159insC	c.(1156-1161)cccagcfs	p.S387fs	TBX5_ENST00000349716.5_Frame_Shift_Ins_p.S337fs|TBX5_ENST00000405440.2_Frame_Shift_Ins_p.S387fs	NM_000192.3	NP_000183.2	Q99593	TBX5_HUMAN	T-box 5	387					apoptotic nuclear changes (GO:0030262)|atrial septum morphogenesis (GO:0060413)|atrioventricular valve morphogenesis (GO:0003181)|bundle of His development (GO:0003166)|cardiac left ventricle formation (GO:0003218)|cardiac muscle cell differentiation (GO:0055007)|cell migration involved in coronary vasculogenesis (GO:0060980)|cell-cell signaling (GO:0007267)|embryonic forelimb morphogenesis (GO:0035115)|embryonic limb morphogenesis (GO:0030326)|endocardial cushion development (GO:0003197)|forelimb morphogenesis (GO:0035136)|gene expression (GO:0010467)|heart development (GO:0007507)|lung development (GO:0030324)|morphogenesis of an epithelium (GO:0002009)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|pattern specification process (GO:0007389)|pericardium development (GO:0060039)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of secondary heart field cardioblast proliferation (GO:0072513)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of execution phase of apoptosis (GO:1900117)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular cardiac muscle tissue development (GO:0003229)|ventricular septum development (GO:0003281)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		ACAGGCTCGCTGGGGGGCGCAG	0.629																																					NSCLC(152;1358 1980 4050 23898 40356)	ENST00000310346.4																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56						c.(1156-1161)ccgcgafs		T-box 5																																				SO:0001589	frameshift_variant	6910				cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr12:114793735_114793736insG	U89353	CCDS9173.1, CCDS9174.1	12q24.1	2014-09-17			ENSG00000089225	ENSG00000089225		"""T-boxes"""	11604	protein-coding gene	gene with protein product		601620		HOS		8988165, 8054982	Standard	NM_000192		Approved		uc001tvo.4	Q99593	OTTHUMG00000166191	ENST00000310346.4:c.1159dupC	12.37:g.114793741_114793741dupG	ENSP00000309913:p.Ser387fs		Somatic				TBX5_ENST00000405440.2_Frame_Shift_Ins_p.R387fs|TBX5_ENST00000349716.5_Frame_Shift_Ins_p.R337fs	p.R387fs	NM_000192.3	NP_000183.2	WXS	Illumina GAIIx	Phase_I	Q99593	TBX5_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0893)	9	1824_1825	-	Medulloblastoma(191;0.163)|all_neural(191;0.178)		387					A6ND77|O15301|Q96TB0|Q9Y4I2	Frame_Shift_Ins	INS	ENST00000310346.4	37	c.1158_1159insC	CCDS9173.1																																																																																				0.629	TBX5-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388297.1	NM_080717		8	184						8	184	---	---	---	---
MSI1	4440	broad.mit.edu	37	12	120800902	120800903	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr12:120800902_120800903insC	ENST00000257552.2	-	6	433_434	c.345_346insG	c.(343-348)gggctgfs	p.L116fs	MSI1_ENST00000546622.1_5'Flank	NM_002442.3	NP_002433.1	O43347	MSI1H_HUMAN	musashi RNA-binding protein 1	116	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				epithelial cell differentiation (GO:0030855)|nervous system development (GO:0007399)|response to hormone (GO:0009725)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|polysome (GO:0005844)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)|RNA binding (GO:0003723)			breast(4)|central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(5)|skin(2)	19	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TTCACCGACAGCCCCCCCACAA	0.564																																						ENST00000257552.2																			0				breast(4)|central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(5)|skin(2)	19						c.(343-348)ggtgtcfs		musashi RNA-binding protein 1																																				SO:0001589	frameshift_variant	4440				nervous system development	cytoplasm|nucleus	nucleotide binding	g.chr12:120800902_120800903insC	AB012851	CCDS9196.1	12q24	2013-07-16	2012-12-13					"""RNA binding motif (RRM) containing"""	7330	protein-coding gene	gene with protein product		603328	"""Musashi (Drosophila) homolog 1"", ""musashi homolog 1 (Drosophila)"""			9790759	Standard	NM_002442		Approved		uc001tye.2	O43347	OTTHUMG00000169344	ENST00000257552.2:c.346dupG	12.37:g.120800909_120800909dupC	ENSP00000257552:p.Leu116fs		Somatic					p.V116fs	NM_002442.3	NP_002433.1	WXS	Illumina GAIIx	Phase_I	O43347	MSI1H_HUMAN			6	433_434	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		116			RRM 2.		Q96PU0|Q96PU1|Q96PU2|Q96PU3	Frame_Shift_Ins	INS	ENST00000257552.2	37	c.345_346insG	CCDS9196.1																																																																																				0.564	MSI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403629.1	NM_002442		10	274						10	274	---	---	---	---
POLE	5426	broad.mit.edu	37	12	133245023	133245024	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr12:133245023_133245024insG	ENST00000320574.5	-	19	2134_2135	c.2091_2092insC	c.(2089-2094)cccttgfs	p.PL697fs	POLE_ENST00000535270.1_Frame_Shift_Ins_p.PL670fs	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	697					base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA synthesis involved in DNA repair (GO:0000731)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	cytoplasm (GO:0005737)|epsilon DNA polymerase complex (GO:0008622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	Cladribine(DB00242)	TCTGGGAACAAGGGGGGGAACT	0.599								DNA polymerases (catalytic subunits)																														ENST00000320574.5																			0				NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89						c.(2089-2094)cctgttfs	DNA polymerases (catalytic subunits)	polymerase (DNA directed), epsilon, catalytic subunit																																				SO:0001589	frameshift_variant	5426				base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding	g.chr12:133245023_133245024insG		CCDS9278.1	12q24.3	2014-09-17	2012-05-18		ENSG00000177084	ENSG00000177084		"""DNA polymerases"""	9177	protein-coding gene	gene with protein product	"""DNA polymerase epsilon catalytic subunit A"""	174762	"""polymerase (DNA directed), epsilon"""			8020968	Standard	NM_006231		Approved	POLE1	uc001uks.1	Q07864	OTTHUMG00000168045	ENST00000320574.5:c.2092dupC	12.37:g.133245030_133245030dupG	ENSP00000322570:p.Pro697fs		Somatic				POLE_ENST00000535270.1_Frame_Shift_Ins_p.V671fs	p.V698fs	NM_006231.2	NP_006222.2	WXS	Illumina GAIIx	Phase_I	Q07864	DPOE1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	19	2134_2135	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)	698					Q13533|Q86VH9	Frame_Shift_Ins	INS	ENST00000320574.5	37	c.2091_2092insC	CCDS9278.1																																																																																				0.599	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397689.2	NM_006231		10	209						10	209	---	---	---	---
KBTBD6	89890	broad.mit.edu	37	13	41705321	41705322	+	Frame_Shift_Ins	INS	-	-	C	rs147771080|rs370605552	byFrequency	TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr13:41705321_41705322insC	ENST00000379485.1	-	1	1560_1561	c.1326_1327insG	c.(1324-1329)gggcgafs	p.R443fs	KBTBD6_ENST00000499385.2_Frame_Shift_Ins_p.R377fs	NM_152903.4	NP_690867.3	Q86V97	KBTB6_HUMAN	kelch repeat and BTB (POZ) domain containing 6	443										NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)		ATAGGGTCTCGCCCCCCCAAAA	0.47																																						ENST00000379485.1																			0				NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43						c.(1324-1329)gggagafs		kelch repeat and BTB (POZ) domain containing 6																																				SO:0001589	frameshift_variant	89890						protein binding	g.chr13:41705321_41705322insC	AK056633	CCDS9376.1	13q13.3	2013-01-08			ENSG00000165572	ENSG00000165572		"""BTB/POZ domain containing"""	25340	protein-coding gene	gene with protein product						12477932	Standard	NM_152903		Approved	DKFZp547E1912	uc001uxu.1	Q86V97	OTTHUMG00000016786	ENST00000379485.1:c.1327dupG	13.37:g.41705328_41705328dupC	ENSP00000368799:p.Arg443fs		Somatic				KBTBD6_ENST00000499385.2_Frame_Shift_Ins_p.R377fs	p.R443fs	NM_152903.4	NP_690867.3	WXS	Illumina GAIIx	Phase_I	Q86V97	KBTB6_HUMAN		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)	1	1560_1561	-		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)	443					Q5T6Y8|Q8N8L0|Q8NDM5|Q96MP6	Frame_Shift_Ins	INS	ENST00000379485.1	37	c.1326_1327insG	CCDS9376.1																																																																																				0.470	KBTBD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044657.1	NM_152903		8	164						8	164	---	---	---	---
OR4N2	390429	broad.mit.edu	37	14	20295776	20295777	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr14:20295776_20295777insC	ENST00000315947.1	+	1	169_170	c.169_170insC	c.(169-171)gccfs	p.A57fs	OR4N2_ENST00000568211.1_Frame_Shift_Ins_p.A57fs	NM_001004723.1	NP_001004723.1	Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	57						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TGGGCTCACAGCCCCCCTCTAT	0.475																																						ENST00000315947.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52						c.(169-171)cccfs		olfactory receptor, family 4, subfamily N, member 2																																				SO:0001589	frameshift_variant	390429				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20295776_20295777insC		CCDS32022.1	14q11.2	2013-09-23				ENSG00000176294		"""GPCR / Class A : Olfactory receptors"""	14742	protein-coding gene	gene with protein product							Standard	NM_001004723		Approved		uc010tkv.2	Q8NGD1		ENST00000315947.1:c.175dupC	14.37:g.20295782_20295782dupC	ENSP00000319601:p.Ala57fs		Somatic				OR4N2_ENST00000568211.1_Frame_Shift_Ins_p.P57fs	p.P57fs	NM_001004723.1	NP_001004723.1	WXS	Illumina GAIIx	Phase_I	Q8NGD1	OR4N2_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	169_170	+	all_cancers(95;0.00108)		57					Q6IEY9|Q6IFA2	Frame_Shift_Ins	INS	ENST00000315947.1	37	c.169_170insC	CCDS32022.1																																																																																				0.475	OR4N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409821.2			12	937						12	937	---	---	---	---
OR4N5	390437	broad.mit.edu	37	14	20612063	20612064	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr14:20612063_20612064insC	ENST00000333629.1	+	1	169_170	c.169_170insC	c.(169-171)gccfs	p.A57fs	RNA5SP381_ENST00000516076.1_RNA	NM_001004724.1	NP_001004724.1	Q8IXE1	OR4N5_HUMAN	olfactory receptor, family 4, subfamily N, member 5	57						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1)	29	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)		TGGGCTCACAGCCCCCCTCTAT	0.46																																						ENST00000333629.1																			0				endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1)	29						c.(169-171)cccfs		olfactory receptor, family 4, subfamily N, member 5																																				SO:0001589	frameshift_variant	390437				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20612063_20612064insC		CCDS32031.1	14q11.2	2013-09-23			ENSG00000184394	ENSG00000184394		"""GPCR / Class A : Olfactory receptors"""	15358	protein-coding gene	gene with protein product							Standard	NM_001004724		Approved		uc010tla.2	Q8IXE1	OTTHUMG00000170784	ENST00000333629.1:c.175dupC	14.37:g.20612069_20612069dupC	ENSP00000332110:p.Ala57fs		Somatic					p.P57fs	NM_001004724.1	NP_001004724.1	WXS	Illumina GAIIx	Phase_I	Q8IXE1	OR4N5_HUMAN	Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)	1	169_170	+	all_cancers(95;0.00108)		57					Q6IF11	Frame_Shift_Ins	INS	ENST00000333629.1	37	c.169_170insC	CCDS32031.1																																																																																				0.460	OR4N5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410347.1			20	1919						20	1919	---	---	---	---
TMEM55B	90809	broad.mit.edu	37	14	20928945	20928946	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr14:20928945_20928946insG	ENST00000250489.4	-	2	487_488	c.201_202insC	c.(199-204)ccctatfs	p.Y68fs	TMEM55B_ENST00000398020.4_Frame_Shift_Ins_p.Y75fs|TMEM55B_ENST00000554028.1_5'Flank			Q86T03	TM55B_HUMAN	transmembrane protein 55B	68	Pro-rich.					endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)	hydrolase activity (GO:0016787)			endometrium(3)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)	11	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;1.09e-07)|all cancers(55;1.19e-06)	GBM - Glioblastoma multiforme(265;0.0224)|READ - Rectum adenocarcinoma(17;0.193)		AAGGGTGAATAGGGGGGTGGGT	0.574																																						ENST00000250489.4																			0				endometrium(3)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)	11						c.(199-204)ccattcfs		transmembrane protein 55B																																				SO:0001589	frameshift_variant	90809					integral to membrane|late endosome membrane|lysosomal membrane	hydrolase activity	g.chr14:20928945_20928946insG	BC002867	CCDS9551.1, CCDS41911.1	14q11.1	2002-11-27	2005-07-18	2005-07-18	ENSG00000165782	ENSG00000165782			19299	protein-coding gene	gene with protein product		609865	"""chromosome 14 open reading frame 9"""	C14orf9			Standard	NM_144568		Approved	MGC26684	uc001vxk.2	Q86T03	OTTHUMG00000029545	ENST00000250489.4:c.202dupC	14.37:g.20928951_20928951dupG	ENSP00000250489:p.Tyr68fs		Somatic				TMEM55B_ENST00000398020.4_Frame_Shift_Ins_p.F75fs	p.F68fs			WXS	Illumina GAIIx	Phase_I	Q86T03	TM55B_HUMAN	Epithelial(56;1.09e-07)|all cancers(55;1.19e-06)	GBM - Glioblastoma multiforme(265;0.0224)|READ - Rectum adenocarcinoma(17;0.193)	2	487_488	-	all_cancers(95;0.00123)	all_lung(585;0.235)	68			Pro-rich.		B2RA35|Q86U09|Q8WUC0|Q9BU67|Q9NSU8	Frame_Shift_Ins	INS	ENST00000250489.4	37	c.201_202insC	CCDS9551.1																																																																																				0.574	TMEM55B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000073643.3	NM_144568		8	288						8	288	---	---	---	---
RNASE3	6037	broad.mit.edu	37	14	21359982	21359983	+	Frame_Shift_Ins	INS	-	-	C	rs142084658	byFrequency	TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr14:21359982_21359983insC	ENST00000304639.3	+	2	195_196	c.137_138insC	c.(136-141)aaccccfs	p.NP46fs		NM_002935.2	NP_002926.2	P12724	ECP_HUMAN	ribonuclease, RNase A family, 3	46	Required for nearly all of the bactericidal activity; partially involved in LPS-binding and bacterial membrane depolarization.				antibacterial humoral response (GO:0019731)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|RNA catabolic process (GO:0006401)|RNA phosphodiester bond hydrolysis (GO:0090501)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	endonuclease activity (GO:0004519)|nucleic acid binding (GO:0003676)|ribonuclease activity (GO:0004540)			endometrium(1)|large_intestine(1)|lung(6)|ovary(1)	9	all_cancers(95;0.00453)		OV - Ovarian serous cystadenocarcinoma(11;6.3e-09)|Epithelial(56;1.42e-07)|all cancers(55;5.48e-07)	GBM - Glioblastoma multiforme(265;0.0187)	Pranlukast(DB01411)	ATCAGTCTGAACCCCCCTCGAT	0.48																																						ENST00000304639.3																			0				endometrium(1)|large_intestine(1)|lung(6)|ovary(1)	9						c.(136-138)accfs		ribonuclease, RNase A family, 3	Pranlukast(DB01411)																																			SO:0001589	frameshift_variant	6037				defense response to bacterium|RNA catabolic process	extracellular region|soluble fraction	nucleic acid binding|pancreatic ribonuclease activity	g.chr14:21359982_21359983insC	X55990	CCDS9560.1	14q11.2	2014-03-13	2010-05-07		ENSG00000169397	ENSG00000169397	3.1.27.-	"""Ribonucleases, RNase A"""	10046	protein-coding gene	gene with protein product	"""eosinophil cationic protein"""	131398		RNS3		1577491	Standard	NM_002935		Approved	ECP	uc001vyj.3	P12724	OTTHUMG00000029604	ENST00000304639.3:c.143dupC	14.37:g.21359988_21359988dupC	ENSP00000302324:p.Asn46fs		Somatic					p.T46fs	NM_002935.2	NP_002926.2	WXS	Illumina GAIIx	Phase_I	P12724	ECP_HUMAN	OV - Ovarian serous cystadenocarcinoma(11;6.3e-09)|Epithelial(56;1.42e-07)|all cancers(55;5.48e-07)	GBM - Glioblastoma multiforme(265;0.0187)	2	195_196	+	all_cancers(95;0.00453)		46					Q4VBC1|Q8WTP7|Q8WZ62|Q9GZN9	Frame_Shift_Ins	INS	ENST00000304639.3	37	c.137_138insC	CCDS9560.1																																																																																				0.480	RNASE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073795.2	NM_002935		9	606						9	606	---	---	---	---
SUPT16H	11198	broad.mit.edu	37	14	21820849	21820850	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr14:21820849_21820850insG	ENST00000216297.2	-	26	3464_3465	c.3126_3127insC	c.(3124-3129)cccaagfs	p.K1043fs		NM_007192.3	NP_009123.1	Q9Y5B9	SP16H_HUMAN	suppressor of Ty 16 homolog (S. cerevisiae)	1043					DNA repair (GO:0006281)|DNA replication (GO:0006260)|gene expression (GO:0010467)|nucleosome disassembly (GO:0006337)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of viral transcription (GO:0050434)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		CTCTTTTTCTTGGGGGGTGCAG	0.48																																						ENST00000216297.2																			0				breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						c.(3124-3129)ccagaafs		suppressor of Ty 16 homolog (S. cerevisiae)																																				SO:0001589	frameshift_variant	11198				DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|nucleoplasm	GTP binding	g.chr14:21820849_21820850insG	AF152961	CCDS9569.1	14q11.1	2008-08-13	2001-11-28		ENSG00000092201	ENSG00000092201			11465	protein-coding gene	gene with protein product	"""facilitates chromatin remodeling 140 kDa subunit"""	605012	"""suppressor of Ty (S.cerevisiae) 16 homolog"""			9489704, 11239457	Standard	NM_007192		Approved	FACT, FACTP140, SPT16/CDC68, FLJ14010, FLJ10857, CDC68	uc001wao.2	Q9Y5B9	OTTHUMG00000029685	ENST00000216297.2:c.3127dupC	14.37:g.21820855_21820855dupG	ENSP00000216297:p.Lys1043fs		Somatic					p.E1043fs	NM_007192.3	NP_009123.1	WXS	Illumina GAIIx	Phase_I	Q9Y5B9	SP16H_HUMAN	Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)	26	3464_3465	-	all_cancers(95;0.00115)		1043					Q6GMT8|Q6P2F1|Q6PJM1|Q9NRX0	Frame_Shift_Ins	INS	ENST00000216297.2	37	c.3126_3127insC	CCDS9569.1																																																																																				0.480	SUPT16H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074025.2			11	585						11	585	---	---	---	---
REC8	9985	broad.mit.edu	37	14	24642563	24642564	+	Frame_Shift_Ins	INS	-	-	T	rs148175635		TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr14:24642563_24642564insT	ENST00000311457.3	+	6	1004_1005	c.405_406insT	c.(406-408)tttfs	p.F136fs	REC8_ENST00000559919.1_Frame_Shift_Ins_p.F136fs			O95072	REC8_HUMAN	REC8 meiotic recombination protein	136					double-strand break repair via homologous recombination (GO:0000724)|fertilization (GO:0009566)|linear element assembly (GO:0030999)|male meiosis I (GO:0007141)|meiotic nuclear division (GO:0007126)|oocyte maturation (GO:0001556)|reciprocal meiotic recombination (GO:0007131)|seminiferous tubule development (GO:0072520)|sister chromatid cohesion (GO:0007062)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)	condensed nuclear chromosome kinetochore (GO:0000778)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|nuclear meiotic cohesin complex (GO:0034991)|nucleus (GO:0005634)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15				GBM - Glioblastoma multiforme(265;0.00839)		CTCCAGATCCCTTTTTTGGGAT	0.53																																					NSCLC(139;1764 2537 12868 49041)	ENST00000311457.3																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15						c.(403-408)ccttttfs		REC8 meiotic recombination protein																																				SO:0001589	frameshift_variant	9985				mitotic metaphase/anaphase transition|mitotic prometaphase|reciprocal meiotic recombination|sister chromatid cohesion	nucleoplasm		g.chr14:24642563_24642564insT	AF006264	CCDS41932.1	14q11.2-q12	2013-08-06	2013-08-06	2007-04-03		ENSG00000100918			16879	protein-coding gene	gene with protein product		608193	"""REC8-like 1 (yeast)"", ""REC8 homolog (yeast)"""	REC8L1		10207075, 15935783, 12759374	Standard	NM_005132		Approved	Rec8p, kleisin-alpha	uc001wms.3	O95072		ENST00000311457.3:c.411dupT	14.37:g.24642569_24642569dupT	ENSP00000308699:p.Phe136fs		Somatic				REC8_ENST00000559919.1_Frame_Shift_Ins_p.PF135fs	p.PF135fs			WXS	Illumina GAIIx	Phase_I	O95072	REC8_HUMAN		GBM - Glioblastoma multiforme(265;0.00839)	6	1004_1005	+			135					A8K576|D3DS62|Q658V5|Q6IA92|Q8WUV8|Q9BTF2|Q9NVQ9	Frame_Shift_Ins	INS	ENST00000311457.3	37	c.405_406insT	CCDS41932.1																																																																																				0.530	REC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415889.3	NM_005132		8	470						8	470	---	---	---	---
AKAP6	9472	broad.mit.edu	37	14	32902724	32902725	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr14:32902724_32902725insC	ENST00000280979.4	+	2	195_196	c.25_26insC	c.(25-27)tccfs	p.S9fs	AKAP6_ENST00000557272.1_Frame_Shift_Ins_p.S9fs|AKAP6_ENST00000557354.1_Frame_Shift_Ins_p.S9fs|AKAP6_ENST00000554449.1_3'UTR	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	9					action potential (GO:0001508)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cAMP biosynthetic process (GO:0030818)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell growth (GO:0030307)|positive regulation of cell growth involved in cardiac muscle cell development (GO:0061051)|positive regulation of delayed rectifier potassium channel activity (GO:1902261)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of potassium ion transmembrane transport (GO:1901381)|positive regulation of protein phosphatase type 2B activity (GO:0032514)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|protein targeting (GO:0006605)|regulation of membrane repolarization (GO:0060306)|regulation of protein kinase A signaling (GO:0010738)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	calcium channel complex (GO:0034704)|caveola (GO:0005901)|cytoplasm (GO:0005737)|intercalated disc (GO:0014704)|junctional sarcoplasmic reticulum membrane (GO:0014701)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)	adenylate cyclase binding (GO:0008179)|ion channel binding (GO:0044325)|protein anchor (GO:0043495)|protein complex scaffold (GO:0032947)|protein kinase A binding (GO:0051018)|protein kinase A regulatory subunit binding (GO:0034237)			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		CGTGACACTTTCCCCCCTGAGG	0.505																																					Melanoma(49;821 1200 7288 13647 42351)	ENST00000280979.4																			0				NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122						c.(25-27)cccfs		A kinase (PRKA) anchor protein 6																																				SO:0001589	frameshift_variant	9472				protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding	g.chr14:32902724_32902725insC	AB002309	CCDS9644.1	14q12	2008-08-11			ENSG00000151320	ENSG00000151320		"""A-kinase anchor proteins"""	376	protein-coding gene	gene with protein product	"""protein kinase A anchoring protein 6"""	604691				7721854, 9205841	Standard	NM_004274		Approved	KIAA0311, mAKAP, AKAP100, PRKA6, ADAP6	uc001wrq.3	Q13023	OTTHUMG00000140207	ENST00000280979.4:c.31dupC	14.37:g.32902730_32902730dupC	ENSP00000280979:p.Ser9fs		Somatic				AKAP6_ENST00000557354.1_Frame_Shift_Ins_p.P9fs|AKAP6_ENST00000557272.1_Frame_Shift_Ins_p.P9fs|AKAP6_ENST00000554449.1_3'UTR	p.P9fs	NM_004274.4	NP_004265.3	WXS	Illumina GAIIx	Phase_I	Q13023	AKAP6_HUMAN	LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)	2	195_196	+	Breast(36;0.0388)|Prostate(35;0.15)		9					A7E242|A7E2D4|O15028	Frame_Shift_Ins	INS	ENST00000280979.4	37	c.25_26insC	CCDS9644.1																																																																																				0.505	AKAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276617.2	NM_004274		11	312						11	312	---	---	---	---
C14orf28	122525	broad.mit.edu	37	14	45369723	45369724	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr14:45369723_45369724insG	ENST00000325192.3	+	2	360_361	c.85_86insG	c.(85-87)tggfs	p.W29fs	RP11-857B24.5_ENST00000555157.1_RNA|C14orf28_ENST00000557112.1_Frame_Shift_Ins_p.W29fs	NM_001017923.1	NP_001017923.1	Q4W4Y0	CN028_HUMAN	chromosome 14 open reading frame 28	29										endometrium(1)|large_intestine(3)|liver(1)|lung(4)|ovary(2)	11						TGTTCTTCCTTGGGGGGGTGTT	0.376																																						ENST00000325192.3																			0				endometrium(1)|large_intestine(3)|liver(1)|lung(4)|ovary(2)	11						c.(85-87)gggfs		chromosome 14 open reading frame 28				14,4250		0,14,2118						5.6	1.0			77	13,8241		0,13,4114	no	frameshift	C14orf28	NM_001017923.1		0,27,6232	A1A1,A1R,RR		0.1575,0.3283,0.2157				27,12491				SO:0001589	frameshift_variant	122525							g.chr14:45369723_45369724insG	AA496212	CCDS32069.1	14q21.2	2012-08-16			ENSG00000179476	ENSG00000179476			19834	protein-coding gene	gene with protein product	"""dopamine receptor interacting protein 1"""						Standard	XM_005267316		Approved	DRIP-1	uc001wvo.3	Q4W4Y0	OTTHUMG00000170722	ENST00000325192.3:c.92dupG	14.37:g.45369730_45369730dupG	ENSP00000326846:p.Trp29fs		Somatic				C14orf28_ENST00000557112.1_Frame_Shift_Ins_p.G29fs|RP11-857B24.5_ENST00000555157.1_RNA	p.G29fs	NM_001017923.1	NP_001017923.1	WXS	Illumina GAIIx	Phase_I	Q4W4Y0	CN028_HUMAN			2	360_361	+			29						Frame_Shift_Ins	INS	ENST00000325192.3	37	c.85_86insG	CCDS32069.1																																																																																				0.376	C14orf28-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410086.1	NM_001017923		7	88						7	88	---	---	---	---
KCNH5	27133	broad.mit.edu	37	14	63174302	63174303	+	Frame_Shift_Ins	INS	-	-	G	rs35940222		TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr14:63174302_63174303insG	ENST00000322893.7	-	11	3158_3159	c.2890_2891insC	c.(2890-2892)cagfs	p.Q964fs	KCNH5_ENST00000420622.2_3'UTR	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	964					potassium ion transmembrane transport (GO:0071805)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		ACATGGTATCTGGGGGGGTACT	0.391																																						ENST00000322893.7																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99						c.(2890-2892)gatfs		potassium voltage-gated channel, subfamily H (eag-related), member 5			,	5,4259		0,5,2127					,	4.2	1.0		dbSNP_126	119	5,8249		0,5,4122	no	utr-3,frameshift	KCNH5	NM_172375.1,NM_139318.3	,	0,10,6249	A1A1,A1R,RR		0.0606,0.1173,0.0799	,	,		10,12508				SO:0001589	frameshift_variant	27133				regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity	g.chr14:63174302_63174303insG	U69185	CCDS9756.1, CCDS45122.1	14q23.1	2012-07-05			ENSG00000140015	ENSG00000140015		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6254	protein-coding gene	gene with protein product		605716				9738473, 16382104	Standard	NM_139318		Approved	Kv10.2, H-EAG2, eag2	uc001xfx.3	Q8NCM2	OTTHUMG00000029041	ENST00000322893.7:c.2891dupC	14.37:g.63174309_63174309dupG	ENSP00000321427:p.Gln964fs		Somatic				KCNH5_ENST00000420622.2_3'UTR	p.D964fs	NM_139318.3	NP_647479.2	WXS	Illumina GAIIx	Phase_I	Q8NCM2	KCNH5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)	11	3158_3159	-			964					C9JP98	Frame_Shift_Ins	INS	ENST00000322893.7	37	c.2890_2891insC	CCDS9756.1																																																																																				0.391	KCNH5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411747.1	NM_139318		19	513						19	513	---	---	---	---
GALNT16	57452	broad.mit.edu	37	14	69800299	69800300	+	Frame_Shift_Ins	INS	-	-	G	rs144140025		TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr14:69800299_69800300insG	ENST00000337827.4	+	9	1276_1277	c.949_950insG	c.(949-951)tggfs	p.W317fs	GALNT16_ENST00000553669.1_Frame_Shift_Ins_p.W317fs|GALNT16_ENST00000448469.3_Frame_Shift_Ins_p.W317fs	NM_001168368.1|NM_020692.2	NP_001161840.1|NP_065743.2	Q8N428	GLT16_HUMAN	polypeptide N-acetylgalactosaminyltransferase 16	317	Catalytic subdomain B.				protein glycosylation (GO:0006486)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)										GATGGACATCTGGGGGGGAGAG	0.47																																						ENST00000337827.4																			0											c.(949-951)gggfs		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 16																																				SO:0001589	frameshift_variant	57452							g.chr14:69800299_69800300insG	AB032956	CCDS32107.1	14q24.1	2014-03-13	2014-03-13	2013-01-25	ENSG00000100626	ENSG00000100626	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	23233	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 16"""	615132	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 1"", ""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 16"""	GALNTL1		10574461, 22186971	Standard	NM_020692		Approved	KIAA1130, GalNAc-T16	uc010aqu.2	Q8N428	OTTHUMG00000171231	ENST00000337827.4:c.956dupG	14.37:g.69800306_69800306dupG	ENSP00000336729:p.Trp317fs		Somatic				GALNT16_ENST00000448469.3_Frame_Shift_Ins_p.G317fs|GALNT16_ENST00000553669.1_Frame_Shift_Ins_p.G317fs	p.G317fs	NM_001168368.1|NM_020692.2	NP_001161840.1|NP_065743.2	WXS	Illumina GAIIx	Phase_I					9	1276_1277	+								Q4KMG3|Q58A55|Q9ULT9	Frame_Shift_Ins	INS	ENST00000337827.4	37	c.949_950insG	CCDS32107.1																																																																																				0.470	GALNT16-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412434.1	NM_001168368		14	226						14	226	---	---	---	---
IGHV4-39	28394	broad.mit.edu	37	14	106877817	106877819	+	RNA	DEL	ACT	ACT	-	rs139927975|rs113800876|rs367947132	byFrequency	TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr14:106877817_106877819delACT	ENST00000390619.2	-	0	224_226									immunoglobulin heavy variable 4-39																		CCCAGTAGTAACTACTACTGCTG	0.596																																						ENST00000390619.2																			0																	1153,2423		29,1095,664						-0.6	0.0		dbSNP_134	58	1515,6297		125,1265,2516	no	intergenic				154,2360,3180	A1A1,A1R,RR		19.3932,32.2427,23.4282				2668,8720						28394							g.chr14:106877817_106877819delACT	L10094		14q32.33	2012-02-08			ENSG00000211959	ENSG00000211959		"""Immunoglobulins / IGH locus"""	5651	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000152067		14.37:g.106877823_106877825delACT			Somatic								WXS	Illumina GAIIx	Phase_I					0	224_226	-									RNA	DEL	ENST00000390619.2	37																																																																																						0.596	IGHV4-39-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000325161.1	NG_001019		19	63						19	63	---	---	---	---
OR4M2	390538	broad.mit.edu	37	15	22369023	22369024	+	Frame_Shift_Ins	INS	-	-	G	rs570771230|rs571384652	byFrequency	TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr15:22369023_22369024insG	ENST00000332663.2	+	1	546_547	c.448_449insG	c.(448-450)aggfs	p.R150fs	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	150						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R150M(2)|p.R150W(1)		NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		TCTCTCCTGGAGGGGGGGCTTC	0.5													tgggggg|GGGGGGG|GGGGGGGG|complex_insertion	8	0.00159744	0.0045	0.0	5008	,	,		35803	0.0		0.0	False		,,,				2504	0.002					ENST00000332663.2																			3	Substitution - Missense(3)	p.R150M(2)|p.R150W(1)	lung(3)	NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63						c.(448-450)gggfs		olfactory receptor, family 4, subfamily M, member 2																																				SO:0001589	frameshift_variant	390538				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr15:22369023_22369024insG	AC060768	CCDS32172.1	15q11.2	2013-09-23			ENSG00000182974	ENSG00000182974		"""GPCR / Class A : Olfactory receptors"""	15373	protein-coding gene	gene with protein product							Standard	NM_001004719		Approved		uc010tzu.2	Q8NGB6	OTTHUMG00000171738	ENST00000332663.2:c.455dupG	15.37:g.22369030_22369030dupG	ENSP00000329467:p.Arg150fs		Somatic				RP11-69H14.6_ENST00000558896.1_RNA	p.G150fs	NM_001004719.2	NP_001004719.2	WXS	Illumina GAIIx	Phase_I	Q8NGB6	OR4M2_HUMAN	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)	1	546_547	+		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	150					B9EH16|Q6IEY2	Frame_Shift_Ins	INS	ENST00000332663.2	37	c.448_449insG	CCDS32172.1																																																																																				0.500	OR4M2-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414921.1			21	890						21	890	---	---	---	---
THBS1	7057	broad.mit.edu	37	15	39881488	39881489	+	Frame_Shift_Ins	INS	-	-	C	rs370418172		TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr15:39881488_39881489insC	ENST00000260356.5	+	12	2024_2025	c.1859_1860insC	c.(1858-1863)tgccccfs	p.CP620fs		NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	620					activation of MAPK activity (GO:0000187)|behavioral response to pain (GO:0048266)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heat (GO:0034605)|cellular response to tumor necrosis factor (GO:0071356)|chronic inflammatory response (GO:0002544)|endocardial cushion development (GO:0003197)|engulfment of apoptotic cell (GO:0043652)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|immune response (GO:0006955)|negative regulation of angiogenesis (GO:0016525)|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II (GO:0002581)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cGMP-mediated signaling (GO:0010754)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of dendritic cell antigen processing and presentation (GO:0002605)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|negative regulation of plasminogen activation (GO:0010757)|outflow tract morphogenesis (GO:0003151)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood coagulation (GO:0030194)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of chemotaxis (GO:0050921)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of macrophage activation (GO:0043032)|positive regulation of macrophage chemotaxis (GO:0010759)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of transforming growth factor beta1 production (GO:0032914)|positive regulation of translation (GO:0045727)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to endoplasmic reticulum stress (GO:0034976)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to magnesium ion (GO:0032026)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|response to testosterone (GO:0033574)|response to unfolded protein (GO:0006986)|sprouting angiogenesis (GO:0002040)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|sarcoplasmic reticulum (GO:0016529)|secretory granule (GO:0030141)	calcium ion binding (GO:0005509)|collagen V binding (GO:0070052)|fibrinogen binding (GO:0070051)|fibroblast growth factor binding (GO:0017134)|fibronectin binding (GO:0001968)|glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|laminin binding (GO:0043236)|low-density lipoprotein particle binding (GO:0030169)|phosphatidylserine binding (GO:0001786)|proteoglycan binding (GO:0043394)|transforming growth factor beta binding (GO:0050431)			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)		TGCCTGCCCTGCCCCCCACGCT	0.569																																						ENST00000260356.5																			0				breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53						c.(1858-1860)tccfs		thrombospondin 1	Becaplermin(DB00102)																																			SO:0001589	frameshift_variant	7057				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding	g.chr15:39881488_39881489insC		CCDS32194.1	15q15	2009-04-08			ENSG00000137801	ENSG00000137801			11785	protein-coding gene	gene with protein product	"""thrombospondin-1p180"""	188060				2341158, 2335352	Standard	NM_003246		Approved	TSP1, THBS, TSP, THBS-1, TSP-1	uc001zkh.3	P07996	OTTHUMG00000133665	ENST00000260356.5:c.1865dupC	15.37:g.39881494_39881494dupC	ENSP00000260356:p.Cys620fs		Somatic					p.S620fs	NM_003246.2	NP_003237.2	WXS	Illumina GAIIx	Phase_I	P07996	TSP1_HUMAN		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	12	2024_2025	+		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)	620			EGF-like 2; calcium-binding (Potential).		A8K6H4|B4E3J7|B9EGH6|Q15667|Q59E99	Frame_Shift_Ins	INS	ENST00000260356.5	37	c.1859_1860insC	CCDS32194.1																																																																																				0.569	THBS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257831.2	NM_003246		8	594						8	594	---	---	---	---
SORD	6652	broad.mit.edu	37	15	45353365	45353366	+	Frame_Shift_Ins	INS	-	-	C	rs200121839|rs11542063	byFrequency	TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr15:45353365_45353366insC	ENST00000267814.9	+	4	546_547	c.366_367insC	c.(367-369)cccfs	p.P123fs	RP11-109D20.1_ENST00000560324.1_RNA|SORD_ENST00000558580.1_Frame_Shift_Ins_p.P102fs	NM_003104.5	NP_003095.2	Q00796	DHSO_HUMAN	sorbitol dehydrogenase	123					fructose biosynthetic process (GO:0046370)|glucose metabolic process (GO:0006006)|L-xylitol catabolic process (GO:0051160)|L-xylitol metabolic process (GO:0051164)|sorbitol catabolic process (GO:0006062)|sperm motility (GO:0030317)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|motile cilium (GO:0031514)	carbohydrate binding (GO:0030246)|L-iditol 2-dehydrogenase activity (GO:0003939)|NAD binding (GO:0051287)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(3)|lung(4)	9		all_cancers(109;3.43e-12)|all_epithelial(112;2.33e-10)|Lung NSC(122;6.01e-07)|all_lung(180;4.38e-06)|Melanoma(134;0.0122)		all cancers(107;1.6e-18)|GBM - Glioblastoma multiforme(94;4.95e-07)|COAD - Colon adenocarcinoma(120;0.0704)|Colorectal(133;0.0706)		TCTGTGCCACGCCCCCCGATGA	0.53																																						ENST00000267814.9																			0				endometrium(2)|large_intestine(3)|lung(4)	9						c.(364-369)acccccfs		sorbitol dehydrogenase	NADH(DB00157)																																			SO:0001589	frameshift_variant	6652				fructose biosynthetic process|glucose metabolic process|L-xylitol catabolic process|sorbitol catabolic process|sperm motility	cilium|extracellular space|flagellum|membrane fraction|mitochondrial membrane|soluble fraction	L-iditol 2-dehydrogenase activity|NAD binding|sugar binding|zinc ion binding	g.chr15:45353365_45353366insC		CCDS10116.1	15q15-q21.1	2012-10-02			ENSG00000140263	ENSG00000140263	1.1.1.14		11184	protein-coding gene	gene with protein product		182500				7782086	Standard	NM_003104		Approved		uc001zul.4	Q00796	OTTHUMG00000131265	ENST00000267814.9:c.372dupC	15.37:g.45353371_45353371dupC	ENSP00000267814:p.Pro123fs		Somatic				SORD_ENST00000558580.1_Frame_Shift_Ins_p.TP101fs	p.TP122fs	NM_003104.5	NP_003095.2	WXS	Illumina GAIIx	Phase_I	Q00796	DHSO_HUMAN		all cancers(107;1.6e-18)|GBM - Glioblastoma multiforme(94;4.95e-07)|COAD - Colon adenocarcinoma(120;0.0704)|Colorectal(133;0.0706)	4	546_547	+		all_cancers(109;3.43e-12)|all_epithelial(112;2.33e-10)|Lung NSC(122;6.01e-07)|all_lung(180;4.38e-06)|Melanoma(134;0.0122)	122					B2R655|B7Z3A6|J3JZZ5|Q16682|Q9UMD6	Frame_Shift_Ins	INS	ENST00000267814.9	37	c.366_367insC	CCDS10116.1																																																																																				0.530	SORD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254033.3			14	303						14	303	---	---	---	---
UNC13C	440279	broad.mit.edu	37	15	54630575	54630576	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr15:54630575_54630576insC	ENST00000260323.11	+	16	4601_4602	c.4601_4602insC	c.(4600-4605)agccccfs	p.SP1534fs	UNC13C_ENST00000537900.1_Frame_Shift_Ins_p.SP1532fs|UNC13C_ENST00000545554.1_Frame_Shift_Ins_p.SP1534fs	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1534					exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		GAGCTGCAAAGCCCCCCAAAAG	0.401																																						ENST00000545554.1																			0				breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121						c.(4600-4602)accfs		unc-13 homolog C (C. elegans)																																				SO:0001589	frameshift_variant	440279				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr15:54630575_54630576insC	AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.4607dupC	15.37:g.54630581_54630581dupC	ENSP00000260323:p.Ser1534fs		Somatic				UNC13C_ENST00000260323.11_Frame_Shift_Ins_p.T1534fs|UNC13C_ENST00000537900.1_Frame_Shift_Ins_p.T1532fs	p.T1534fs			WXS	Illumina GAIIx	Phase_I	Q8NB66	UN13C_HUMAN		GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)	16	4601_4602	+			1534					Q0P613|Q8ND48|Q96NP3	Frame_Shift_Ins	INS	ENST00000260323.11	37	c.4601_4602insC	CCDS45264.1																																																																																				0.401	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	NM_173166		11	419						11	419	---	---	---	---
PRTG	283659	broad.mit.edu	37	15	55912218	55912219	+	Frame_Shift_Ins	INS	-	-	G	rs370777308		TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr15:55912218_55912219insG	ENST00000389286.4	-	20	3491_3492	c.3444_3445insC	c.(3442-3447)cccaacfs	p.N1149fs		NM_173814.4	NP_776175.2			protogenin											breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		AATCAGAGGTTGGGGGGTGTGG	0.49																																						ENST00000389286.4																			0				breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41						c.(3442-3447)ccacctfs		protogenin																																				SO:0001589	frameshift_variant	283659				multicellular organismal development	integral to membrane		g.chr15:55912218_55912219insG	AK098622	CCDS42040.1	15q21.3	2013-02-11	2010-06-24		ENSG00000166450	ENSG00000166450		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	26373	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 5"""	613261	"""protogenin homolog (Gallus gallus)"""				Standard	NM_173814		Approved	FLJ25756, IGDCC5	uc002adg.3	Q2VWP7		ENST00000389286.4:c.3445dupC	15.37:g.55912224_55912224dupG	ENSP00000373937:p.Asn1149fs		Somatic					p.P1149fs	NM_173814.4	NP_776175.2	WXS	Illumina GAIIx	Phase_I	Q2VWP7	PRTG_HUMAN		all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)	20	3491_3492	-			1149						Frame_Shift_Ins	INS	ENST00000389286.4	37	c.3444_3445insC	CCDS42040.1																																																																																				0.490	PRTG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419357.1	NM_173814		12	462						12	462	---	---	---	---
RFX7	64864	broad.mit.edu	37	15	56386880	56386881	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr15:56386880_56386881insG	ENST00000559447.2	-	9	3025_3026	c.2754_2755insC	c.(2752-2757)cccagcfs	p.S919fs	RFX7_ENST00000422057.1_Frame_Shift_Ins_p.S919fs|RFX7_ENST00000423270.1_Frame_Shift_Ins_p.S1016fs|RFX7_ENST00000317318.6_Frame_Shift_Ins_p.S1016fs			Q2KHR2	RFX7_HUMAN	regulatory factor X, 7	919					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						TCAACAGGGCTGGGGGGGACAC	0.5																																						ENST00000423270.1																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						c.(3043-3048)ccgcccfs		regulatory factor X, 7																																				SO:0001589	frameshift_variant	64864				regulation of transcription, DNA-dependent	nucleus	DNA binding	g.chr15:56386880_56386881insG			15q21.3	2008-08-04	2008-08-04	2008-08-04		ENSG00000181827			25777	protein-coding gene	gene with protein product		612660	"""regulatory factor X domain containing 2"""	RFXDC2			Standard	NM_022841		Approved	FLJ12994	uc010bfn.3	Q2KHR2		ENST00000559447.2:c.2755dupC	15.37:g.56386887_56386887dupG	ENSP00000453281:p.Ser919fs		Somatic				RFX7_ENST00000317318.6_Frame_Shift_Ins_p.P1016fs|RFX7_ENST00000559447.2_Frame_Shift_Ins_p.P919fs|RFX7_ENST00000422057.1_Frame_Shift_Ins_p.P919fs	p.P1016fs	NM_022841.5	NP_073752.5	WXS	Illumina GAIIx	Phase_I	Q2KHR2	RFX7_HUMAN			9	3044_3045	-			919					Q6ZRR1|Q6ZTY6|Q8N3J0|Q9H7A9|Q9H956	Frame_Shift_Ins	INS	ENST00000559447.2	37	c.3045_3046insC																																																																																					0.500	RFX7-001	KNOWN	non_canonical_U12|basic	protein_coding	protein_coding	OTTHUMT00000418841.3	NM_022841		8	153						8	153	---	---	---	---
ZNF609	23060	broad.mit.edu	37	15	64967993	64967994	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr15:64967993_64967994insC	ENST00000326648.3	+	4	3068_3069	c.2940_2941insC	c.(2941-2943)cccfs	p.P981fs		NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN	zinc finger protein 609	981						nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						ATGCCTATGTACCCCCCTATGG	0.55																																						ENST00000326648.3																			0				breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(2938-2943)gtccccfs		zinc finger protein 609																																				SO:0001589	frameshift_variant	23060					nucleus	zinc ion binding	g.chr15:64967993_64967994insC	BC014251	CCDS32270.1	15q22.1	2008-05-02				ENSG00000180357		"""Zinc fingers, C2H2-type"""	29003	protein-coding gene	gene with protein product						9205841	Standard	NM_015042		Approved	KIAA0295	uc002ann.3	O15014		ENST00000326648.3:c.2946dupC	15.37:g.64967999_64967999dupC	ENSP00000316527:p.Pro981fs		Somatic					p.VP980fs	NM_015042.1	NP_055857.1	WXS	Illumina GAIIx	Phase_I	O15014	ZN609_HUMAN			4	3068_3069	+			980					Q0D2I2	Frame_Shift_Ins	INS	ENST00000326648.3	37	c.2940_2941insC	CCDS32270.1																																																																																				0.550	ZNF609-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418130.1	XM_042833		10	799						10	799	---	---	---	---
FURIN	5045	broad.mit.edu	37	15	91424956	91424957	+	Frame_Shift_Ins	INS	-	-	G	rs35641241		TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr15:91424956_91424957insG	ENST00000268171.3	+	16	2512_2513	c.2233_2234insG	c.(2233-2235)cggfs	p.R745fs	FES_ENST00000328850.3_5'Flank|FES_ENST00000394302.1_5'Flank|FES_ENST00000414248.2_5'Flank	NM_002569.2	NP_002560.1	P09958	FURIN_HUMAN	furin (paired basic amino acid cleaving enzyme)	745					cell proliferation (GO:0008283)|cellular protein metabolic process (GO:0044267)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of low-density lipoprotein particle receptor catabolic process (GO:0032804)|negative regulation of transforming growth factor beta1 production (GO:0032911)|nerve growth factor processing (GO:0032455)|nerve growth factor production (GO:0032902)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|peptidyl-glutamic acid carboxylation (GO:0017187)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|post-translational protein modification (GO:0043687)|protein processing (GO:0016485)|proteolysis (GO:0006508)|regulation of endopeptidase activity (GO:0052548)|regulation of protein catabolic process (GO:0042176)|secretion by cell (GO:0032940)|signal peptide processing (GO:0006465)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)|trans-Golgi network transport vesicle (GO:0030140)	endopeptidase activity (GO:0004175)|metal ion binding (GO:0046872)|nerve growth factor binding (GO:0048406)|peptidase activity (GO:0008233)|peptide binding (GO:0042277)|protease binding (GO:0002020)|serine-type endopeptidase activity (GO:0004252)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.R745L(1)		breast(1)|central_nervous_system(4)|endometrium(4)|large_intestine(3)|liver(2)|lung(13)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	36	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			CTTTAGTTTTCGGGGGGTGAAG	0.619																																						ENST00000268171.3																			1	Substitution - Missense(1)	p.R745L(1)	lung(1)	breast(1)|central_nervous_system(4)|endometrium(4)|large_intestine(3)|liver(2)|lung(13)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	36						c.(2233-2235)gggfs		furin (paired basic amino acid cleaving enzyme)																																				SO:0001589	frameshift_variant	5045				cell proliferation|negative regulation of low-density lipoprotein particle receptor catabolic process|negative regulation of transforming growth factor-beta1 production|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|Notch signaling pathway|peptide biosynthetic process|peptidyl-glutamic acid carboxylation|post-translational protein modification|secretion by cell|signal peptide processing|transforming growth factor beta receptor signaling pathway|viral assembly, maturation, egress, and release	cell surface|Golgi lumen|Golgi membrane|integral to membrane|membrane raft|plasma membrane|trans-Golgi network|trans-Golgi network transport vesicle	metal ion binding|nerve growth factor binding|peptide binding|protease binding|serine-type endopeptidase activity|serine-type endopeptidase inhibitor activity	g.chr15:91424956_91424957insG	X17094	CCDS10364.1	15q26.1	2007-01-24	2002-12-04	2002-12-06	ENSG00000140564	ENSG00000140564			8568	protein-coding gene	gene with protein product		136950	"""paired basic amino acid cleaving enzyme (furin, membrane associated receptor protein)"""	PCSK3, FUR, PACE		2251280, 1741956	Standard	NM_002569		Approved	SPC1	uc002bpu.1	P09958	OTTHUMG00000149831	ENST00000268171.3:c.2239dupG	15.37:g.91424962_91424962dupG	ENSP00000268171:p.Arg745fs		Somatic					p.G745fs	NM_002569.2	NP_002560.1	WXS	Illumina GAIIx	Phase_I	P09958	FURIN_HUMAN	Lung(145;0.189)		16	2512_2513	+	Lung NSC(78;0.0771)|all_lung(78;0.137)		745					Q14336|Q6LBS3|Q9UCZ5	Frame_Shift_Ins	INS	ENST00000268171.3	37	c.2233_2234insG	CCDS10364.1																																																																																				0.619	FURIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313492.1	NM_002569		8	247						8	247	---	---	---	---
MSLNL	401827	broad.mit.edu	37	16	830785	830786	+	Intron	INS	-	-	CAG	rs371048330|rs374071660		TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr16:830785_830786insCAG	ENST00000442466.1	-	2	37				MSLNL_ENST00000293892.3_In_Frame_Ins_p.72_73insC			Q96KJ4	MSLNL_HUMAN	mesothelin-like						cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						CGGGTAGGTGACGGTGTGCACG	0.589																																						ENST00000293892.3																			0				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						c.(214-216)cca>cCTGca		mesothelin-like																																				SO:0001627	intron_variant	401827				cell adhesion	integral to membrane		g.chr16:830785_830786insCAG			16p13.3	2008-08-06	2008-07-04	2008-07-04	ENSG00000162006	ENSG00000162006			14170	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 37"""	C16orf37			Standard	NG_032123		Approved	MPFL		Q96KJ4		ENST00000442466.1:c.38-623->CTG	16.37:g.830785_830786insCAG			Somatic				MSLNL_ENST00000442466.1_Intron	p.72_73insA			WXS	Illumina GAIIx	Phase_I	Q96KJ4	MSLNL_HUMAN			3	214_215	-			0						In_Frame_Ins	INS	ENST00000442466.1	37	c.215_216insCTG																																																																																					0.589	MSLNL-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_001025190		9	238						9	238	---	---	---	---
SRRM2	23524	broad.mit.edu	37	16	2815060	2815061	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr16:2815060_2815061insC	ENST00000301740.8	+	11	5080_5081	c.4531_4532insC	c.(4531-4533)accfs	p.T1511fs		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	1511	Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						CAAGTGTCTTACCCCCCAGAGA	0.525																																						ENST00000301740.8																			0				breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						c.(4531-4533)cccfs		serine/arginine repetitive matrix 2																																				SO:0001589	frameshift_variant	23524					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding	g.chr16:2815060_2815061insC	AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.4537dupC	16.37:g.2815066_2815066dupC	ENSP00000301740:p.Thr1511fs		Somatic					p.P1511fs	NM_016333.3	NP_057417.3	WXS	Illumina GAIIx	Phase_I	Q9UQ35	SRRM2_HUMAN			11	5080_5081	+			1511			Ser-rich.		A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Frame_Shift_Ins	INS	ENST00000301740.8	37	c.4531_4532insC	CCDS32373.1																																																																																				0.525	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436411.1			7	672						7	672	---	---	---	---
EMP2	2013	broad.mit.edu	37	16	10637490	10637491	+	Frame_Shift_Ins	INS	-	-	A			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr16:10637490_10637491insA	ENST00000359543.3	-	3	314_315	c.105_106insT	c.(103-108)tttgcafs	p.A36fs	EMP2_ENST00000536829.1_Frame_Shift_Ins_p.A36fs	NM_001424.4	NP_001415.1	P54851	EMP2_HUMAN	epithelial membrane protein 2	36					cell proliferation (GO:0008283)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of integrin-mediated signaling pathway (GO:2001046)|regulation of glomerular filtration (GO:0003093)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	integrin binding (GO:0005178)			NS(1)|endometrium(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	6						CAGACATCTGCAAAAAACTCAT	0.441																																					GBM(158;2021 2691 14714 39478)	ENST00000359543.3																			0				NS(1)|endometrium(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	6						c.(103-108)ttcagafs		epithelial membrane protein 2																																				SO:0001589	frameshift_variant	2013				cell proliferation	integral to membrane		g.chr16:10637490_10637491insA	U52100	CCDS10541.1	16p13.2	2008-08-01			ENSG00000213853	ENSG00000213853			3334	protein-coding gene	gene with protein product		602334				8996089, 10331954, 16216233	Standard	NM_001424		Approved	XMP	uc002czx.3	P54851	OTTHUMG00000129752	ENST00000359543.3:c.106dupT	16.37:g.10637496_10637496dupA	ENSP00000352540:p.Ala36fs		Somatic				EMP2_ENST00000536829.1_Frame_Shift_Ins_p.R36fs	p.R36fs	NM_001424.4	NP_001415.1	WXS	Illumina GAIIx	Phase_I	P54851	EMP2_HUMAN			3	314_315	-			36					B2R7V6|D3DUF8	Frame_Shift_Ins	INS	ENST00000359543.3	37	c.105_106insT	CCDS10541.1																																																																																				0.441	EMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251965.1	NM_001424		7	483						7	483	---	---	---	---
CIITA	4261	broad.mit.edu	37	16	10995899	10995900	+	Frame_Shift_Ins	INS	-	-	C	rs555184617		TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr16:10995899_10995900insC	ENST00000324288.8	+	7	619_620	c.486_487insC	c.(487-489)cccfs	p.P163fs	CIITA_ENST00000537380.1_3'UTR|CIITA_ENST00000381835.5_Intron	NM_000246.3	NP_000237	P33076	C2TA_HUMAN	class II, major histocompatibility complex, transactivator	163					aging (GO:0007568)|cellular response to electrical stimulus (GO:0071257)|cellular response to exogenous dsRNA (GO:0071360)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|inflammatory response (GO:0006954)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of collagen biosynthetic process (GO:0032966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to antibiotic (GO:0046677)|response to interferon-gamma (GO:0034341)|transcription, DNA-templated (GO:0006351)	cell surface (GO:0009986)|nucleoplasm (GO:0005654)|PML body (GO:0016605)	activating transcription factor binding (GO:0033613)|ATP binding (GO:0005524)|GTP binding (GO:0005525)|kinase activity (GO:0016301)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|transferase activity, transferring acyl groups (GO:0016746)			central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						TCACAGCTGAGCCCCCCACTGT	0.634			T	"""FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"""	"""PMBL, Hodgkin Lymphona, """																																	ENST00000324288.8				Dom	yes		16	16p13	4261	T	"""class II, major histocompatibility complex, transactivator"""			L	"""FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"""		"""PMBL, Hodgkin Lymphona, """		0				central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						c.(484-489)gaccccfs		class II, major histocompatibility complex, transactivator																																				SO:0001589	frameshift_variant	4261				interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding	g.chr16:10995899_10995900insC	U18259	CCDS10544.1, CCDS66943.1, CCDS73826.1	16p13	2014-09-17	2005-08-12	2005-08-12	ENSG00000179583	ENSG00000179583		"""Nucleotide-binding domain and leucine rich repeat containing"""	7067	protein-coding gene	gene with protein product	"""NLR family, acid domain containing"", ""nucleotide-binding oligomerization domain, leucine rich repeat and acid domain containing"""	600005	"""MHC class II transactivator"""	MHC2TA		8402893	Standard	NM_000246		Approved	C2TA, NLRA	uc002dai.4	P33076	OTTHUMG00000129753	ENST00000324288.8:c.492dupC	16.37:g.10995905_10995905dupC	ENSP00000316328:p.Pro163fs		Somatic				CIITA_ENST00000381835.5_Intron|CIITA_ENST00000537380.1_3'UTR	p.DP162fs	NM_000246.3	NP_000237.2	WXS	Illumina GAIIx	Phase_I	P33076	C2TA_HUMAN			7	619_620	+			162					A0N0N9|D3DUG0|E9PFE0|Q29675|Q8SNB8|Q96KL4	Frame_Shift_Ins	INS	ENST00000324288.8	37	c.486_487insC	CCDS10544.1																																																																																				0.634	CIITA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251966.2	NM_000246		13	956						13	956	---	---	---	---
NOMO1	23420	broad.mit.edu	37	16	14980694	14980695	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr16:14980694_14980695insC	ENST00000287667.7	+	28	3470_3471	c.3299_3300insC	c.(3298-3303)ttccccfs	p.FP1100fs		NM_014287.3	NP_055102.3	Q15155	NOMO1_HUMAN	NODAL modulator 1	1100						integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)			endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2)	30						TTCTTCCATTTCCCCCCACTGC	0.475																																						ENST00000287667.7																			0				endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2)	30						c.(3298-3300)tccfs		NODAL modulator 1																																				SO:0001589	frameshift_variant	23420					integral to membrane	carbohydrate binding|carboxypeptidase activity|protein binding	g.chr16:14980694_14980695insC	X57398	CCDS10556.1	16p13.11	2008-02-05			ENSG00000103512	ENSG00000103512			30060	protein-coding gene	gene with protein product		609157				1310294, 15257293	Standard	NM_014287		Approved	PM5	uc002dcv.3	Q15155	OTTHUMG00000090541	ENST00000287667.7:c.3305dupC	16.37:g.14980700_14980700dupC	ENSP00000287667:p.Phe1100fs		Somatic					p.S1100fs	NM_014287.3	NP_055102.3	WXS	Illumina GAIIx	Phase_I	Q15155	NOMO1_HUMAN			28	3470_3471	+			1100					P78421|Q8IW21|Q96DG0	Frame_Shift_Ins	INS	ENST00000287667.7	37	c.3299_3300insC	CCDS10556.1																																																																																				0.475	NOMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207065.1			7	567						7	567	---	---	---	---
ACSM2B	348158	broad.mit.edu	37	16	20556547	20556548	+	Frame_Shift_Ins	INS	-	-	G	rs367747928|rs146499503		TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr16:20556547_20556548insG	ENST00000329697.6	-	10	1380_1381	c.1212_1213insC	c.(1210-1215)cccggcfs	p.G405fs	ACSM2B_ENST00000567288.1_5'UTR|ACSM2B_ENST00000565322.1_Frame_Shift_Ins_p.G326fs|ACSM2B_ENST00000567001.1_Frame_Shift_Ins_p.G405fs|ACSM2B_ENST00000565232.1_Frame_Shift_Ins_p.G405fs	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	405					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)			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						CCTTCTGTGCCGGGGGGCAGGA	0.515																																						ENST00000329697.6																			0				breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						c.(1210-1215)ccgcacfs		acyl-CoA synthetase medium-chain family member 2B																																				SO:0001589	frameshift_variant	348158				fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding	g.chr16:20556547_20556548insG	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.1213dupC	16.37:g.20556553_20556553dupG	ENSP00000327453:p.Gly405fs		Somatic				ACSM2B_ENST00000567001.1_Frame_Shift_Ins_p.H405fs|ACSM2B_ENST00000567288.1_5'UTR|ACSM2B_ENST00000565322.1_Frame_Shift_Ins_p.H326fs|ACSM2B_ENST00000565232.1_Frame_Shift_Ins_p.H405fs	p.H405fs	NM_001105069.1	NP_001098539.1	WXS	Illumina GAIIx	Phase_I	Q68CK6	ACS2B_HUMAN			10	1380_1381	-			405					Q86YT1	Frame_Shift_Ins	INS	ENST00000329697.6	37	c.1212_1213insC	CCDS10586.1																																																																																				0.515	ACSM2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254417.2	NM_182617		8	312						8	312	---	---	---	---
DNAH3	55567	broad.mit.edu	37	16	20976720	20976721	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr16:20976720_20976721insC	ENST00000261383.3	-	53	8484_8485	c.8485_8486insG	c.(8485-8487)gtafs	p.V2829fs	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2829	Stalk. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CTTTTTGGATACCCCCCAGTAA	0.416																																						ENST00000261383.3																			0				NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202						c.(8485-8487)atcfs		dynein, axonemal, heavy chain 3																																				SO:0001589	frameshift_variant	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:20976720_20976721insC	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.8486dupG	16.37:g.20976726_20976726dupC	ENSP00000261383:p.Val2829fs		Somatic				DNAH3_ENST00000415178.1_3'UTR	p.I2829fs	NM_017539.1	NP_060009.1	WXS	Illumina GAIIx	Phase_I	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	53	8484_8485	-			2829			Stalk (By similarity).		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Frame_Shift_Ins	INS	ENST00000261383.3	37	c.8485_8486insG	CCDS10594.1																																																																																				0.416	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		7	263						7	263	---	---	---	---
TBX6	6911	broad.mit.edu	37	16	30100077	30100078	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr16:30100077_30100078insC	ENST00000395224.2	-	5	763_764	c.704_705insG	c.(703-705)ggcfs	p.G235fs	TBX6_ENST00000553607.1_Frame_Shift_Ins_p.G235fs|TBX6_ENST00000279386.2_Frame_Shift_Ins_p.G235fs	NM_004608.3	NP_004599.2	O95947	TBX6_HUMAN	T-box 6	235					anatomical structure morphogenesis (GO:0009653)|cell fate specification (GO:0001708)|mesoderm development (GO:0007498)|mesoderm formation (GO:0001707)|negative regulation of neuron maturation (GO:0014043)|negative regulation of neuron projection development (GO:0010977)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction involved in regulation of gene expression (GO:0023019)|somite rostral/caudal axis specification (GO:0032525)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)	9						AGGAGGCCATGCCCCCCCAGTG	0.629																																						ENST00000553607.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)	9						c.(703-705)gatfs		T-box 6																																				SO:0001589	frameshift_variant	6911				anatomical structure morphogenesis|mesoderm development|multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:30100077_30100078insC	AJ007989	CCDS10670.1	16p11.2	2008-02-05			ENSG00000149922	ENSG00000149922		"""T-boxes"""	11605	protein-coding gene	gene with protein product		602427				9888994, 9933572	Standard	NM_004608		Approved		uc010veh.2	O95947	OTTHUMG00000132115	ENST00000395224.2:c.705dupG	16.37:g.30100084_30100084dupC	ENSP00000378650:p.Gly235fs		Somatic				TBX6_ENST00000395224.2_Frame_Shift_Ins_p.D235fs|TBX6_ENST00000279386.2_Frame_Shift_Ins_p.D235fs	p.D235fs			WXS	Illumina GAIIx	Phase_I	O95947	TBX6_HUMAN			4	1397_1398	-			235					Q8TAS4|Q9HA44	Frame_Shift_Ins	INS	ENST00000395224.2	37	c.704_705insG	CCDS10670.1																																																																																				0.629	TBX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255157.2	NM_004608, NM_080758		9	128						9	128	---	---	---	---
ITGAD	3681	broad.mit.edu	37	16	31422532	31422533	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr16:31422532_31422533insG	ENST00000389202.2	+	13	1541_1542	c.1492_1493insG	c.(1492-1494)aggfs	p.R498fs		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	498					activated T cell proliferation (GO:0050798)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|integrin-mediated signaling pathway (GO:0007229)	cell surface (GO:0009986)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						TCCCTTGCCTAGGGGGGTGAGT	0.629																																						ENST00000389202.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						c.(1492-1494)gggfs		integrin, alpha D				1,4263		0,1,2131						-8.3	0.0			80	0,8250		0,0,4125	no	frameshift	ITGAD	NM_005353.2		0,1,6256	A1A1,A1R,RR		0.0,0.0235,0.0080				1,12513				SO:0001589	frameshift_variant	3681				cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity	g.chr16:31422532_31422533insG	U40274	CCDS32438.1	16p13.1-p11	2010-03-23				ENSG00000156886		"""CD molecules"", ""Integrins"""	6146	protein-coding gene	gene with protein product		602453				8666289, 9598326	Standard	NM_005353		Approved	CD11d, ADB2	uc002ebv.1	Q13349		ENST00000389202.2:c.1497dupG	16.37:g.31422538_31422538dupG	ENSP00000373854:p.Arg498fs		Somatic					p.G498fs	NM_005353.2	NP_005344.2	WXS	Illumina GAIIx	Phase_I	Q13349	ITAD_HUMAN			13	1541_1542	+			498					Q15575|Q15576	Frame_Shift_Ins	INS	ENST00000389202.2	37	c.1492_1493insG	CCDS32438.1																																																																																				0.629	ITGAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432836.1	NM_005353		7	928						7	928	---	---	---	---
MT4	84560	broad.mit.edu	37	16	56602768	56602769	+	Frame_Shift_Ins	INS	-	-	C	rs543306573	byFrequency	TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr16:56602768_56602769insC	ENST00000219162.3	+	3	193_194	c.113_114insC	c.(112-117)tgccccfs	p.CP38fs		NM_032935.2	NP_116324	P47944	MT4_HUMAN	metallothionein 4	38					cellular metal ion homeostasis (GO:0006875)		metal ion binding (GO:0046872)			ovary(1)|upper_aerodigestive_tract(1)	2						TGTCCCTGCTGCCCCCCGGGCT	0.599													CCCcCC|CCCCCC|CCCCCCC|insertion	3	0.000599042	0.0023	0.0	5008	,	,		18016	0.0		0.0	False		,,,				2504	0.0					ENST00000219162.3																			0				ovary(1)|upper_aerodigestive_tract(1)	2						c.(112-114)tccfs		metallothionein 4																																				SO:0001589	frameshift_variant	84560					cytoplasm	copper ion binding|zinc ion binding	g.chr16:56602768_56602769insC	BC113442	CCDS42165.1	16q13	2014-09-04	2007-01-26		ENSG00000102891	ENSG00000102891		"""Metallothioneins"""	18705	protein-coding gene	gene with protein product		606206	"""metallothionein IV"""			8003488	Standard	NM_032935		Approved	MTIV	uc002eje.1	P47944	OTTHUMG00000176863	ENST00000219162.3:c.119dupC	16.37:g.56602774_56602774dupC	ENSP00000219162:p.Cys38fs		Somatic					p.S38fs	NM_032935.2	NP_116324.1	WXS	Illumina GAIIx	Phase_I	P47944	MT4_HUMAN			3	193_194	+			38					Q14DA1	Frame_Shift_Ins	INS	ENST00000219162.3	37	c.113_114insC	CCDS42165.1																																																																																				0.599	MT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434118.1	NM_032935		19	713						19	713	---	---	---	---
KCTD19	146212	broad.mit.edu	37	16	67325657	67325658	+	Frame_Shift_Ins	INS	-	-	G	rs201413788		TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr16:67325657_67325658insG	ENST00000304372.5	-	13	2356_2357	c.2301_2302insC	c.(2299-2304)cccgtgfs	p.V768fs		NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN	potassium channel tetramerization domain containing 19	768					protein homooligomerization (GO:0051260)					endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		CTGCCCACCACGGGGGGGTGAG	0.574																																						ENST00000304372.5																			0				endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23						c.(2299-2304)cctggtfs		potassium channel tetramerization domain containing 19				13,3719		0,13,1853						4.5	1.0			57	14,7888		0,14,3937	no	frameshift	KCTD19	NM_001100915.1		0,27,5790	A1A1,A1R,RR		0.1772,0.3483,0.2321				27,11607				SO:0001589	frameshift_variant	146212					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr16:67325657_67325658insG	AK097481	CCDS42179.1	16q22.1	2013-06-20	2013-06-20			ENSG00000168676			24753	protein-coding gene	gene with protein product			"""potassium channel tetramerisation domain containing 19"""				Standard	NM_001100915		Approved	FLJ40162	uc002esu.2	Q17RG1		ENST00000304372.5:c.2302dupC	16.37:g.67325664_67325664dupG	ENSP00000305702:p.Val768fs		Somatic					p.G768fs	NM_001100915.1	NP_001094385.1	WXS	Illumina GAIIx	Phase_I	Q17RG1	KCD19_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)	13	2356_2357	-		Ovarian(137;0.192)	768					B4DZ49|Q8N804	Frame_Shift_Ins	INS	ENST00000304372.5	37	c.2301_2302insC	CCDS42179.1																																																																																				0.574	KCTD19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422061.1	XM_085367		7	71						7	71	---	---	---	---
TERF2IP	54386	broad.mit.edu	37	16	75690386	75690388	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr16:75690386_75690388delTCC	ENST00000300086.4	+	3	1174_1176	c.1077_1079delTCC	c.(1075-1080)tatccc>tac	p.P360del		NM_018975.3	NP_061848.2	Q9NYB0	TE2IP_HUMAN	telomeric repeat binding factor 2, interacting protein	360					negative regulation of DNA recombination at telomere (GO:0048239)|negative regulation of telomere maintenance (GO:0032205)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protection from non-homologous end joining at telomere (GO:0031848)|protein localization to chromosome, telomeric region (GO:0070198)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of transcription, DNA-templated (GO:0006355)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)|telomere maintenance via telomere lengthening (GO:0010833)|transcription, DNA-templated (GO:0006351)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear chromosome (GO:0000228)|nuclear chromosome, telomeric region (GO:0000784)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)	5						CTGATGGATATCCCATTTGGTCC	0.453																																						ENST00000300086.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)	5						c.(1075-1080)tac>ta		telomeric repeat binding factor 2, interacting protein																																				SO:0001651	inframe_deletion	54386				negative regulation of DNA recombination at telomere|negative regulation of telomere maintenance|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|regulation of double-strand break repair via homologous recombination|telomere maintenance via telomerase|transcription, DNA-dependent	cytoplasm|nuclear telomere cap complex|nucleoplasm	DNA binding|protein binding	g.chr16:75690386_75690388delTCC	AK000669	CCDS32491.1	16q23.1	2012-10-03			ENSG00000166848	ENSG00000166848			19246	protein-coding gene	gene with protein product		605061				10850490	Standard	NM_018975		Approved	RAP1	uc002fet.2	Q9NYB0	OTTHUMG00000177136	ENST00000300086.4:c.1077_1079delTCC	16.37:g.75690386_75690388delTCC	ENSP00000300086:p.Pro360del		Somatic					p.YP359del	NM_018975.3	NP_061848.2	WXS	Illumina GAIIx	Phase_I	Q9NYB0	TE2IP_HUMAN			3	1174_1176	+			359					B4DQN4|Q4W4Y2|Q8WYZ3|Q9NWR2	In_Frame_Del	DEL	ENST00000300086.4	37	c.1077_1079delTCC	CCDS32491.1																																																																																				0.453	TERF2IP-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000435519.1	NM_018975		17	428						17	428	---	---	---	---
PAFAH1B1	5048	broad.mit.edu	37	17	2583499	2583500	+	Frame_Shift_Ins	INS	-	-	G	rs113994201|rs113994200		TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr17:2583499_2583500insG	ENST00000397195.5	+	10	1495_1496	c.1044_1045insG	c.(1045-1047)gggfs	p.G349fs	PAFAH1B1_ENST00000451360.2_Frame_Shift_Ins_p.G144fs|PAFAH1B1_ENST00000572915.2_Intron|RN7SL608P_ENST00000492377.2_RNA	NM_000430.3	NP_000421.1			platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)											endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(1)|skin(1)	11						TGTTCCATTCTGGGGGGAAGTT	0.401																																						ENST00000397195.5																			0				endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(1)|skin(1)	11						c.(1042-1047)tcggggfs		platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)																																				SO:0001589	frameshift_variant	5048				acrosome assembly|actin cytoskeleton organization|adult locomotory behavior|brain morphogenesis|corpus callosum morphogenesis|establishment of mitotic spindle orientation|G2/M transition of mitotic cell cycle|hippocampus development|layer formation in cerebral cortex|learning or memory|lipid catabolic process|microtubule organizing center organization|mitotic prometaphase|neuroblast proliferation|neuromuscular process controlling balance|neuron migration|platelet activating factor metabolic process|regulation of Rho GTPase activity|retrograde axon cargo transport|synaptic transmission|vesicle transport along microtubule	astral microtubule|cell cortex|centrosome|cytosol|kinetochore|motile primary cilium|nuclear membrane|perinuclear region of cytoplasm	dynactin binding|heparin binding|microtubule binding|phospholipase binding|phosphoprotein binding|protein homodimerization activity	g.chr17:2583499_2583500insG	L25107	CCDS32528.1	17p13.3	2014-04-04	2010-02-10		ENSG00000007168	ENSG00000007168		"""WD repeat domain containing"""	8574	protein-coding gene	gene with protein product	"""lissencephaly-1"""	601545	"""platelet-activating factor acetylhydrolase, isoform Ib, alpha subunit (45kD)"", ""Miller-Dieker syndrome chromosome region"", ""platelet-activating factor acetylhydrolase, isoform Ib, alpha subunit 45kDa"", ""platelet-activating factor acetylhydrolase, isoform Ib, subunit 1 (45kDa)"""	MDCR, MDS		8355785, 9063735	Standard	NM_000430		Approved	LIS1, PAFAH	uc002fuw.4	P43034	OTTHUMG00000177574	ENST00000397195.5:c.1050dupG	17.37:g.2583505_2583505dupG	ENSP00000380378:p.Gly349fs		Somatic				PAFAH1B1_ENST00000451360.2_Frame_Shift_Ins_p.SG143fs|PAFAH1B1_ENST00000397193.3_3'UTR	p.SG348fs	NM_000430.3	NP_000421.1	WXS	Illumina GAIIx	Phase_I	P43034	LIS1_HUMAN			10	1495_1496	+			348			Interaction with dynein and dynactin.			Frame_Shift_Ins	INS	ENST00000397195.5	37	c.1044_1045insG	CCDS32528.1																																																																																				0.401	PAFAH1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437797.2	NM_000430		10	545						10	545	---	---	---	---
ALOX12	239	broad.mit.edu	37	17	6903739	6903740	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr17:6903739_6903740insC	ENST00000251535.6	+	7	945_946	c.892_893insC	c.(892-894)gccfs	p.A298fs	AC027763.2_ENST00000399541.2_Intron|RP11-589P10.7_ENST00000572547.1_RNA|AC027763.2_ENST00000575727.1_Intron|AC027763.2_ENST00000574377.1_Intron	NM_000697.2	NP_000688.2	P18054	LOX12_HUMAN	arachidonate 12-lipoxygenase	298	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.		A -> T.		aging (GO:0007568)|arachidonic acid metabolic process (GO:0019369)|cellular component movement (GO:0006928)|cellular response to lipid (GO:0071396)|establishment of skin barrier (GO:0061436)|fatty acid oxidation (GO:0019395)|hepoxilin biosynthetic process (GO:0051122)|hepoxilin metabolic process (GO:0051121)|leukotriene A4 metabolic process (GO:1901751)|linoleic acid metabolic process (GO:0043651)|lipoxin A4 biosynthetic process (GO:2001303)|lipoxin B4 biosynthetic process (GO:2001306)|lipoxin metabolic process (GO:2001300)|lipoxygenase pathway (GO:0019372)|negative regulation of apoptotic process (GO:0043066)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of platelet aggregation (GO:0090331)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of gene expression (GO:0010628)|positive regulation of mitochondrial depolarization (GO:0051901)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of vasodilation (GO:0045909)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|superoxide anion generation (GO:0042554)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|sarcolemma (GO:0042383)	arachidonate 12-lipoxygenase activity (GO:0004052)|hepoxilin A3 synthase activity (GO:0051120)|hepoxilin-epoxide hydrolase activity (GO:0047977)|iron ion binding (GO:0005506)|linoleate 13S-lipoxygenase activity (GO:0016165)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)|urinary_tract(1)	19						ATACCTGGCTGCCCCCCTCGTT	0.554																																						ENST00000251535.6																			0				breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)|urinary_tract(1)	19						c.(892-894)cccfs		arachidonate 12-lipoxygenase																																				SO:0001589	frameshift_variant	239				anti-apoptosis|cellular component movement|fatty acid oxidation|leukotriene biosynthetic process|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of cell proliferation|superoxide anion generation	cytosol|sarcolemma	arachidonate 12-lipoxygenase activity|hepoxilin-epoxide hydrolase activity|iron ion binding|lipoxygenase activity|protein binding	g.chr17:6903739_6903740insC	M35418	CCDS11084.1	17p13.1	2010-01-14			ENSG00000108839	ENSG00000108839	1.13.11.31	"""Arachidonate lipoxygenases"""	429	protein-coding gene	gene with protein product	"""platelet 12-LOX"""	152391				1570320	Standard	NM_000697		Approved	12S-LOX	uc002gdx.4	P18054	OTTHUMG00000102088	ENST00000251535.6:c.898dupC	17.37:g.6903745_6903745dupC	ENSP00000251535:p.Ala298fs		Somatic				AC027763.2_ENST00000574377.1_Intron|AC027763.2_ENST00000399541.2_Intron|RP11-589P10.7_ENST00000572547.1_RNA|AC027763.2_ENST00000575727.1_Intron	p.P298fs	NM_000697.2	NP_000688.2	WXS	Illumina GAIIx	Phase_I	P18054	LOX12_HUMAN			7	945_946	+			298		A -> T.	Lipoxygenase.		O95569|Q6ISF8|Q9UQM4	Frame_Shift_Ins	INS	ENST00000251535.6	37	c.892_893insC	CCDS11084.1																																																																																				0.554	ALOX12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219922.2			15	1135						15	1135	---	---	---	---
CHD3	1107	broad.mit.edu	37	17	7798764	7798765	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr17:7798764_7798765insC	ENST00000330494.7	+	10	1761_1762	c.1611_1612insC	c.(1612-1614)cccfs	p.P538fs	CHD3_ENST00000358181.4_Frame_Shift_Ins_p.P538fs|CHD3_ENST00000380358.4_Frame_Shift_Ins_p.P597fs	NM_001005273.2	NP_001005273.1	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	538	Chromo 1. {ECO:0000255|PROSITE- ProRule:PRU00053}.				centrosome organization (GO:0051297)|chromatin assembly or disassembly (GO:0006333)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|spindle organization (GO:0007051)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				CAGATGTCCCACCCCCCCGTCC	0.574																																						ENST00000380358.4																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65						c.(1786-1791)ccccccfs		chromodomain helicase DNA binding protein 3																																				SO:0001589	frameshift_variant	1107				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding	g.chr17:7798764_7798765insC	U08379	CCDS32553.2, CCDS32554.1, CCDS32555.1	17p13	2013-01-28			ENSG00000170004	ENSG00000170004		"""Zinc fingers, PHD-type"""	1918	protein-coding gene	gene with protein product		602120				9326634, 7560064	Standard	NM_001005271		Approved	Mi-2a, ZFH, Mi2-ALPHA	uc002gjd.2	Q12873	OTTHUMG00000150427	ENST00000330494.7:c.1618dupC	17.37:g.7798771_7798771dupC	ENSP00000332628:p.Pro538fs		Somatic				CHD3_ENST00000358181.4_Frame_Shift_Ins_p.PP537fs|CHD3_ENST00000330494.7_Frame_Shift_Ins_p.PP537fs	p.PP596fs	NM_001005271.2	NP_001005271.2	WXS	Illumina GAIIx	Phase_I	Q12873	CHD3_HUMAN			10	1789_1790	+		Prostate(122;0.202)	537					D3DTQ9|E9PG89|Q9Y4I0	Frame_Shift_Ins	INS	ENST00000330494.7	37	c.1788_1789insC	CCDS32554.1																																																																																				0.574	CHD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318050.1	NM_001005273		19	240						19	240	---	---	---	---
PHF12	57649	broad.mit.edu	37	17	27244345	27244346	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr17:27244345_27244346insG	ENST00000332830.4	-	7	1901_1902	c.1091_1092insC	c.(1090-1092)cctfs	p.P364fs	PHF12_ENST00000582655.1_5'UTR|PHF12_ENST00000577226.1_Frame_Shift_Ins_p.P364fs|PHF12_ENST00000268756.3_Frame_Shift_Ins_p.P364fs	NM_001033561.1	NP_001028733.1			PHD finger protein 12											breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)			CACGCCGGTTAGGGGGGTGCTT	0.53																																						ENST00000577226.1																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30						c.(1090-1092)caafs		PHD finger protein 12																																				SO:0001589	frameshift_variant	57649				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	protein binding|zinc ion binding	g.chr17:27244345_27244346insG	AB040956	CCDS11247.1, CCDS32598.1	17q11.2	2013-01-28			ENSG00000109118	ENSG00000109118		"""Zinc fingers, PHD-type"""	20816	protein-coding gene	gene with protein product						11390640	Standard	XM_005258015		Approved	PF1, KIAA1523	uc002hdg.1	Q96QT6	OTTHUMG00000132676	ENST00000332830.4:c.1092dupC	17.37:g.27244351_27244351dupG	ENSP00000329933:p.Pro364fs		Somatic				PHF12_ENST00000582655.1_5'UTR|PHF12_ENST00000332830.4_Frame_Shift_Ins_p.Q364fs|PHF12_ENST00000268756.3_Frame_Shift_Ins_p.Q364fs	p.Q364fs			WXS	Illumina GAIIx	Phase_I	Q96QT6	PHF12_HUMAN	Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)		7	1437_1438	-	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		364			Interaction with SIN3A.			Frame_Shift_Ins	INS	ENST00000332830.4	37	c.1091_1092insC	CCDS32598.1																																																																																				0.530	PHF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255941.1	NM_020889		7	216						7	216	---	---	---	---
SSH2	85464	broad.mit.edu	37	17	27959374	27959375	+	Frame_Shift_Ins	INS	-	-	G	rs376316249		TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr17:27959374_27959375insG	ENST00000269033.3	-	15	2907_2908	c.2756_2757insC	c.(2755-2757)ccafs	p.P919fs	RP11-68I3.2_ENST00000581474.1_RNA|SSH2_ENST00000540801.1_Frame_Shift_Ins_p.P946fs	NM_001282129.1|NM_033389.2	NP_001269058.1|NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	919					actin cytoskeleton organization (GO:0030036)|protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of lamellipodium assembly (GO:0010591)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)	actin binding (GO:0003779)|DNA binding (GO:0003677)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						ATGAATGTTCTGGGGGGGCTTC	0.48																																						ENST00000269033.3																		SSH2/SUZ12(2)	0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(2755-2757)cgafs		slingshot protein phosphatase 2																																				SO:0001589	frameshift_variant	85464				actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr17:27959374_27959375insG	AB072359	CCDS11253.1, CCDS74024.1	17q11.2	2013-03-05	2013-03-05		ENSG00000141298	ENSG00000141298		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"""	30580	protein-coding gene	gene with protein product		606779	"""slingshot homolog 2 (Drosophila)"""			11832213, 11214970	Standard	XM_005258059		Approved	KIAA1725	uc002heo.1	Q76I76	OTTHUMG00000132752	ENST00000269033.3:c.2757dupC	17.37:g.27959381_27959381dupG	ENSP00000269033:p.Pro919fs		Somatic				RP11-68I3.2_ENST00000581474.1_RNA|SSH2_ENST00000540801.1_Frame_Shift_Ins_p.R946fs	p.R919fs	NM_033389.2	NP_203747.2	WXS	Illumina GAIIx	Phase_I	Q76I76	SSH2_HUMAN			15	2907_2908	-			919					Q8TDB5|Q8WYL1|Q8WYL2|Q96F40|Q96H36|Q9C0D8	Frame_Shift_Ins	INS	ENST00000269033.3	37	c.2756_2757insC	CCDS11253.1																																																																																				0.480	SSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256116.1	NM_033389		33	369						33	369	---	---	---	---
SSH2	85464	broad.mit.edu	37	17	27963294	27963295	+	Frame_Shift_Ins	INS	-	-	G	rs562474149|rs35554312	byFrequency	TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr17:27963294_27963295insG	ENST00000269033.3	-	14	2023_2024	c.1872_1873insC	c.(1870-1875)cccatgfs	p.M625fs	RP11-68I3.2_ENST00000581474.1_RNA|SSH2_ENST00000540801.1_Frame_Shift_Ins_p.M652fs	NM_001282129.1|NM_033389.2	NP_001269058.1|NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	625					actin cytoskeleton organization (GO:0030036)|protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of lamellipodium assembly (GO:0010591)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)	actin binding (GO:0003779)|DNA binding (GO:0003677)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TCAGGGGACATGGGGGGGTCTT	0.47																																						ENST00000269033.3																		SSH2/SUZ12(2)	0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(1870-1875)cctgtcfs		slingshot protein phosphatase 2																																				SO:0001589	frameshift_variant	85464				actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr17:27963294_27963295insG	AB072359	CCDS11253.1, CCDS74024.1	17q11.2	2013-03-05	2013-03-05		ENSG00000141298	ENSG00000141298		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"""	30580	protein-coding gene	gene with protein product		606779	"""slingshot homolog 2 (Drosophila)"""			11832213, 11214970	Standard	XM_005258059		Approved	KIAA1725	uc002heo.1	Q76I76	OTTHUMG00000132752	ENST00000269033.3:c.1873dupC	17.37:g.27963301_27963301dupG	ENSP00000269033:p.Met625fs		Somatic				RP11-68I3.2_ENST00000581474.1_RNA|SSH2_ENST00000540801.1_Frame_Shift_Ins_p.V652fs	p.V625fs	NM_033389.2	NP_203747.2	WXS	Illumina GAIIx	Phase_I	Q76I76	SSH2_HUMAN			14	2023_2024	-			625					Q8TDB5|Q8WYL1|Q8WYL2|Q96F40|Q96H36|Q9C0D8	Frame_Shift_Ins	INS	ENST00000269033.3	37	c.1872_1873insC	CCDS11253.1																																																																																				0.470	SSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256116.1	NM_033389		11	161						11	161	---	---	---	---
ACACA	31	broad.mit.edu	37	17	35600370	35600371	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr17:35600370_35600371insG	ENST00000394406.2	-	22	2926_2927	c.2736_2737insC	c.(2734-2739)cccaatfs	p.N913fs	ACACA_ENST00000353139.5_Frame_Shift_Ins_p.N950fs|ACACA_ENST00000335166.5_Frame_Shift_Ins_p.N835fs|ACACA_ENST00000360679.3_Frame_Shift_Ins_p.N855fs	NM_198836.1	NP_942133.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	913					acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|lipid homeostasis (GO:0055088)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|malonyl-CoA biosynthetic process (GO:2001295)|multicellular organismal protein metabolic process (GO:0044268)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|small molecule metabolic process (GO:0044281)|tissue homeostasis (GO:0001894)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	TTCTCCACATTGGGGGGAATGC	0.47																																					Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)	ENST00000353139.5																			0				NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83						c.(2845-2850)ccatgtfs		acetyl-CoA carboxylase alpha	Biotin(DB00121)																																			SO:0001589	frameshift_variant	31				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	g.chr17:35600370_35600371insG	U19822	CCDS11317.1, CCDS11318.1, CCDS42302.1, CCDS42303.1	17q21	2014-05-06	2010-04-30		ENSG00000132142	ENSG00000278540	6.4.1.2		84	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 1"""	200350	"""acetyl-Coenzyme A carboxylase alpha"""	ACAC, ACC			Standard	NM_198837		Approved	ACC1	uc002hno.3	Q13085	OTTHUMG00000188463	ENST00000394406.2:c.2737dupC	17.37:g.35600376_35600376dupG	ENSP00000377928:p.Asn913fs		Somatic				ACACA_ENST00000360679.3_Frame_Shift_Ins_p.C855fs|ACACA_ENST00000335166.5_Frame_Shift_Ins_p.C835fs|ACACA_ENST00000394406.2_Frame_Shift_Ins_p.C913fs	p.C950fs	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	WXS	Illumina GAIIx	Phase_I	Q13085	ACACA_HUMAN			22	3328_3329	-		Breast(25;0.00157)|Ovarian(249;0.15)	913					B2RP68|Q6KEV6|Q6XDA8|Q7Z2G8|Q7Z561|Q7Z563|Q7Z564|Q86WB2|Q86WB3	Frame_Shift_Ins	INS	ENST00000394406.2	37	c.2847_2848insC	CCDS11317.1																																																																																				0.470	ACACA-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256696.1	NM_198836		7	506						7	506	---	---	---	---
NAGLU	4669	broad.mit.edu	37	17	40690467	40690468	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr17:40690467_40690468insC	ENST00000225927.2	+	3	743_744	c.642_643insC	c.(643-645)cccfs	p.P215fs	RP11-400F19.8_ENST00000585572.1_RNA	NM_000263.3	NP_000254.2	P54802	ANAG_HUMAN	N-acetylglucosaminidase, alpha	215					carbohydrate metabolic process (GO:0005975)|cerebellar Purkinje cell layer development (GO:0021680)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|inner ear receptor cell development (GO:0060119)|locomotor rhythm (GO:0045475)|lysosome organization (GO:0007040)|middle ear morphogenesis (GO:0042474)|nervous system development (GO:0007399)|retinal rod cell development (GO:0046548)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)	alpha-N-acetylglucosaminidase activity (GO:0004561)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|ovary(2)|skin(1)	12		all_cancers(22;1.58e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		BRCA - Breast invasive adenocarcinoma(366;0.13)	N-Acetyl-D-glucosamine(DB00141)	ATGGCCCCCTGCCCCCCTCCTG	0.594																																						ENST00000225927.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|ovary(2)|skin(1)	12						c.(640-645)ctccccfs		N-acetylglucosaminidase, alpha	N-Acetyl-D-glucosamine(DB00141)			1,4263		0,1,2131						4.2	1.0			74	1,8253		0,1,4126	no	frameshift	NAGLU	NM_000263.3		0,2,6257	A1A1,A1R,RR		0.0121,0.0235,0.016				2,12516				SO:0001589	frameshift_variant	4669					lysosome	alpha-N-acetylglucosaminidase activity	g.chr17:40690467_40690468insC		CCDS11427.1	17q21.2	2010-07-27	2010-07-27		ENSG00000108784	ENSG00000108784	3.2.1.50		7632	protein-coding gene	gene with protein product	"""Sanfilippo disease IIIB"""	609701					Standard	XM_006721920		Approved	NAG	uc002hzv.3	P54802		ENST00000225927.2:c.648dupC	17.37:g.40690473_40690473dupC	ENSP00000225927:p.Pro215fs		Somatic				RP11-400F19.8_ENST00000585572.1_RNA	p.LP214fs	NM_000263.3	NP_000254.2	WXS	Illumina GAIIx	Phase_I	P54802	ANAG_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.13)	3	743_744	+		all_cancers(22;1.58e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)	214						Frame_Shift_Ins	INS	ENST00000225927.2	37	c.642_643insC	CCDS11427.1																																																																																				0.594	NAGLU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450385.1	NM_000263		7	831						7	831	---	---	---	---
GPATCH8	23131	broad.mit.edu	37	17	42476034	42476035	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr17:42476034_42476035insG	ENST00000591680.1	-	8	3440_3441	c.3410_3411insC	c.(3409-3411)ccafs	p.P1137fs	GPATCH8_ENST00000434000.1_Frame_Shift_Ins_p.P1059fs	NM_001002909.2	NP_001002909.1	Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	1137							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		TGCCAAGAGATGGGGGGAGCTT	0.554																																						ENST00000434000.1																			0				breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50						c.(3175-3177)ctcfs		G patch domain containing 8																																				SO:0001589	frameshift_variant	23131					intracellular	nucleic acid binding|zinc ion binding	g.chr17:42476034_42476035insG	AB011125	CCDS32666.1	17q21.31	2013-01-28	2006-08-22	2006-12-13	ENSG00000186566	ENSG00000186566		"""G patch domain containing"""	29066	protein-coding gene	gene with protein product		614396	"""KIAA0553"""	KIAA0553, GPATC8		9628581	Standard	NM_001002909		Approved		uc002igw.2	Q9UKJ3	OTTHUMG00000181818	ENST00000591680.1:c.3411dupC	17.37:g.42476040_42476040dupG	ENSP00000467556:p.Pro1137fs		Somatic				GPATCH8_ENST00000591680.1_Frame_Shift_Ins_p.L1137fs	p.L1059fs			WXS	Illumina GAIIx	Phase_I	Q9UKJ3	GPTC8_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.206)	9	3458_3459	-		Prostate(33;0.0181)	1137					B9EGP9|O60300|Q8TB99	Frame_Shift_Ins	INS	ENST00000591680.1	37	c.3176_3177insC	CCDS32666.1																																																																																				0.554	GPATCH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457797.1	NM_001002909		7	2093						7	2093	---	---	---	---
MRPL10	124995	broad.mit.edu	37	17	45905873	45905874	+	Frame_Shift_Ins	INS	-	-	G	rs147331240		TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr17:45905873_45905874insG	ENST00000351111.2	-	2	220_221	c.215_216insC	c.(214-216)ccafs	p.P72fs	MRPL10_ENST00000290208.7_Frame_Shift_Ins_p.P82fs|MRPL10_ENST00000414011.1_Frame_Shift_Ins_p.P82fs	NM_145255.3	NP_660298.2	Q7Z7H8	RM10_HUMAN	mitochondrial ribosomal protein L10	72					ribosome biogenesis (GO:0042254)|translation (GO:0006412)	mitochondrial large ribosomal subunit (GO:0005762)|mitochondrion (GO:0005739)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			endometrium(3)|large_intestine(1)|lung(3)|ovary(1)	8						TTACCTCCTGTGGGGGGCTGGG	0.525																																						ENST00000290208.7																			0				endometrium(3)|large_intestine(1)|lung(3)|ovary(1)	8						c.(244-246)ccafs		mitochondrial ribosomal protein L10			,	0,4264		0,0,2132					,	-10.1	0.0			44	1,8253		0,1,4126	no	frameshift,frameshift	MRPL10	NM_148887.2,NM_145255.3	,	0,1,6258	A1A1,A1R,RR		0.0121,0.0,0.0080	,	,		1,12517				SO:0001589	frameshift_variant	124995				ribosome biogenesis|translation	mitochondrial large ribosomal subunit	structural constituent of ribosome	g.chr17:45905873_45905874insG	AB051618	CCDS11516.1, CCDS11517.1	17q21.3	2012-09-13			ENSG00000159111	ENSG00000159111		"""Mitochondrial ribosomal proteins / large subunits"""	14055	protein-coding gene	gene with protein product	"""39S ribosomal protein L10, mitochondrial"""	611825				11551941	Standard	NM_148887		Approved	RPML8, MRP-L8, L10MT, MRP-L10, MRPL8, MGC17973	uc002ily.3	Q7Z7H8	OTTHUMG00000156302	ENST00000351111.2:c.216dupC	17.37:g.45905879_45905879dupG	ENSP00000324100:p.Pro72fs		Somatic				MRPL10_ENST00000414011.1_Frame_Shift_Ins_p.P82fs|MRPL10_ENST00000351111.2_Frame_Shift_Ins_p.P72fs	p.P82fs			WXS	Illumina GAIIx	Phase_I	Q7Z7H8	RM10_HUMAN			2	697_698	-			72					A6NGJ4|Q96B80|Q96Q55	Frame_Shift_Ins	INS	ENST00000351111.2	37	c.245_246insC	CCDS11516.1																																																																																				0.525	MRPL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343764.1	NM_145255		7	253						7	253	---	---	---	---
MTMR4	9110	broad.mit.edu	37	17	56590245	56590246	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr17:56590245_56590246insG	ENST00000323456.5	-	3	184_185	c.60_61insC	c.(58-63)cccaagfs	p.K21fs	MTMR4_ENST00000579925.1_Frame_Shift_Ins_p.K21fs	NM_004687.4	NP_004678.3	Q9NYA4	MTMR4_HUMAN	myotubularin related protein 4	21					negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|small molecule metabolic process (GO:0044281)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytosol (GO:0005829)|early endosome membrane (GO:0031901)|extracellular space (GO:0005615)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)	p.K21fs*20(1)		breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36	Medulloblastoma(34;0.127)|all_neural(34;0.237)					ACTAGTTCCTTGGGGGGGAACA	0.569																																						ENST00000323456.5																			1	Insertion - Frameshift(1)	p.K21fs*20(1)	large_intestine(1)	breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36						c.(58-63)ccaggafs		myotubularin related protein 4																																				SO:0001589	frameshift_variant	9110					cytoplasm|membrane	metal ion binding|protein tyrosine phosphatase activity	g.chr17:56590245_56590246insG	AB014547	CCDS11608.1	17q22-q23	2011-06-09				ENSG00000108389		"""Zinc fingers, FYVE domain containing"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7452	protein-coding gene	gene with protein product		603559				9736772	Standard	NM_004687		Approved	KIAA0647, ZFYVE11	uc002iwj.2	Q9NYA4		ENST00000323456.5:c.61dupC	17.37:g.56590252_56590252dupG	ENSP00000325285:p.Lys21fs		Somatic				MTMR4_ENST00000579925.1_Frame_Shift_Ins_p.G21fs	p.G21fs	NM_004687.4	NP_004678.3	WXS	Illumina GAIIx	Phase_I	Q9NYA4	MTMR4_HUMAN			3	184_185	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		21					D3DTZ6|Q8IV27|Q9Y4D5	Frame_Shift_Ins	INS	ENST00000323456.5	37	c.60_61insC	CCDS11608.1																																																																																				0.569	MTMR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444721.1	NM_004687		10	352						10	352	---	---	---	---
AXIN2	8313	broad.mit.edu	37	17	63532584	63532585	+	Frame_Shift_Ins	INS	-	-	C	rs267606674		TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr17:63532584_63532585insC	ENST00000375702.5	-	6	1907_1908	c.1799_1800insG	c.(1798-1800)ggcfs	p.G600fs	AXIN2_ENST00000307078.5_Frame_Shift_Ins_p.G665fs			Q9Y2T1	AXIN2_HUMAN	axin 2	640				Missing (in Ref. 2; AAF22799). {ECO:0000305}.	bone mineralization (GO:0030282)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to organic cyclic compound (GO:0071407)|chondrocyte differentiation involved in endochondral bone morphogenesis (GO:0003413)|dorsal/ventral axis specification (GO:0009950)|intramembranous ossification (GO:0001957)|maintenance of DNA repeat elements (GO:0043570)|mRNA stabilization (GO:0048255)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of cell proliferation (GO:0008285)|negative regulation of osteoblast differentiation (GO:0045668)|odontogenesis (GO:0042476)|positive regulation of cell death (GO:0010942)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein phosphorylation (GO:0001934)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of chondrocyte development (GO:0061181)|regulation of mismatch repair (GO:0032423)|secondary heart field specification (GO:0003139)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	beta-catenin destruction complex (GO:0030877)|cell cortex (GO:0005938)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic microtubule (GO:0005881)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|protein kinase binding (GO:0019901)|ubiquitin protein ligase binding (GO:0031625)			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	34						GCCCGCTGTTGCCCCCCCACAG	0.658									Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome																													ENST00000307078.5																			0				NS(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	34	GRCh37	CI002733	AXIN2	I		c.(1993-1995)gaafs		axin 2																																				SO:0001589	frameshift_variant	8313	Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome	Familial Cancer Database	Oligodontia-Colorectal Cancer syndrome, Tooth Agenesis-Colorectal Cancer Syndrome	cellular protein localization|cellular response to organic cyclic compound|dorsal/ventral axis specification|intramembranous ossification|maintenance of DNA repeat elements|mRNA stabilization|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of osteoblast differentiation|odontogenesis|positive regulation of cell death|positive regulation of epithelial to mesenchymal transition|positive regulation of protein phosphorylation|regulation of centromeric sister chromatid cohesion|regulation of mismatch repair|Wnt receptor signaling pathway involved in somitogenesis	Axin-APC-beta-catenin-GSK3B complex|cell cortex|centrosome|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|nucleus|plasma membrane|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding	g.chr17:63532584_63532585insC	AF078165	CCDS11662.1	17q24.1	2014-09-17	2008-08-01		ENSG00000168646				904	protein-coding gene	gene with protein product	"""conductin"", ""axil"""	604025				10049590	Standard	NM_004655		Approved	MGC126582, DKFZp781B0869	uc002jfi.3	Q9Y2T1	OTTHUMG00000179353	ENST00000375702.5:c.1800dupG	17.37:g.63532591_63532591dupC	ENSP00000364854:p.Gly600fs		Somatic				AXIN2_ENST00000375702.5_Frame_Shift_Ins_p.E600fs	p.E665fs	NM_004655.3	NP_004646.3	WXS	Illumina GAIIx	Phase_I	Q9Y2T1	AXIN2_HUMAN			8	2307_2308	-			665					Q3MJ88|Q9H3M6|Q9UH84	Frame_Shift_Ins	INS	ENST00000375702.5	37	c.1994_1995insG																																																																																					0.658	AXIN2-004	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000445901.1	NM_004655		7	107						7	107	---	---	---	---
FAM104A	84923	broad.mit.edu	37	17	71223356	71223357	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr17:71223356_71223357insG	ENST00000403627.3	-	2	328_329	c.268_269insC	c.(268-270)cagfs	p.Q90fs	FAM104A_ENST00000581110.1_Intron|FAM104A_ENST00000583024.1_Intron|FAM104A_ENST00000405159.3_Frame_Shift_Ins_p.Q90fs|FAM104A_ENST00000580032.1_5'UTR|FAM104A_ENST00000583178.1_5'UTR	NM_032837.2	NP_116226.2	Q969W3	F104A_HUMAN	family with sequence similarity 104, member A	90										endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6			LUSC - Lung squamous cell carcinoma(166;0.197)			TCTTTTGGTCTGGGGGGGAAGA	0.416																																						ENST00000405159.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6						c.(268-270)gacfs		family with sequence similarity 104, member A																																				SO:0001589	frameshift_variant	84923							g.chr17:71223356_71223357insG	AK027681	CCDS11693.2, CCDS45766.1, CCDS74143.1, CCDS74144.1	17q25.1	2005-12-16			ENSG00000133193	ENSG00000133193			25918	protein-coding gene	gene with protein product							Standard	NM_032837		Approved	FLJ14775	uc002jjj.4	Q969W3	OTTHUMG00000150564	ENST00000403627.3:c.269dupC	17.37:g.71223363_71223363dupG	ENSP00000384648:p.Gln90fs		Somatic				FAM104A_ENST00000583024.1_Intron|FAM104A_ENST00000581110.1_Intron|FAM104A_ENST00000580032.1_5'UTR|FAM104A_ENST00000583178.1_5'UTR|FAM104A_ENST00000403627.3_Frame_Shift_Ins_p.D90fs	p.D90fs	NM_001098832.1	NP_001092302.1	WXS	Illumina GAIIx	Phase_I	Q969W3	F104A_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.197)		2	332_333	-			90					B4E339	Frame_Shift_Ins	INS	ENST00000403627.3	37	c.268_269insC	CCDS11693.2																																																																																				0.416	FAM104A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318935.1	NM_032837		8	156						8	156	---	---	---	---
ZBTB7C	201501	broad.mit.edu	37	18	45566518	45566519	+	Frame_Shift_Ins	INS	-	-	C	rs113275715		TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr18:45566518_45566519insC	ENST00000588982.1	-	3	1461_1462	c.960_961insG	c.(958-963)gggcctfs	p.P321fs	ZBTB7C_ENST00000535628.2_Frame_Shift_Ins_p.P321fs|ZBTB7C_ENST00000590800.1_Frame_Shift_Ins_p.P321fs|ZBTB7C_ENST00000332053.2_Frame_Shift_Ins_p.P321fs|ZBTB7C_ENST00000586438.1_Frame_Shift_Ins_p.P321fs			A1YPR0	ZBT7C_HUMAN	zinc finger and BTB domain containing 7C	321	Pro-rich.						metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						GGTCCCAGAGGCCCCCCCGGCA	0.624																																						ENST00000588982.1																			0				endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						c.(958-963)ggctctfs		zinc finger and BTB domain containing 7C																																				SO:0001589	frameshift_variant	201501					intracellular	nucleic acid binding|zinc ion binding	g.chr18:45566518_45566519insC	Y14591	CCDS32830.1	18q21.1	2013-01-08		2005-04-07	ENSG00000184828	ENSG00000184828		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	31700	protein-coding gene	gene with protein product			"""zinc finger and BTB domain containing 36"""	ZBTB36			Standard	NM_001039360		Approved	ZNF857C	uc002ldb.3	A1YPR0		ENST00000588982.1:c.961dupG	18.37:g.45566525_45566525dupC	ENSP00000468782:p.Pro321fs		Somatic				ZBTB7C_ENST00000590800.1_Frame_Shift_Ins_p.S321fs|ZBTB7C_ENST00000586438.1_Frame_Shift_Ins_p.S321fs|ZBTB7C_ENST00000535628.2_Frame_Shift_Ins_p.S321fs|ZBTB7C_ENST00000332053.2_Frame_Shift_Ins_p.S321fs	p.S321fs			WXS	Illumina GAIIx	Phase_I	A1YPR0	ZBT7C_HUMAN			3	1461_1462	-			321			Pro-rich.		O73453	Frame_Shift_Ins	INS	ENST00000588982.1	37	c.960_961insG	CCDS32830.1																																																																																				0.624	ZBTB7C-025	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450731.1	NM_001039360		17	520						17	520	---	---	---	---
ZBTB7C	201501	broad.mit.edu	37	18	45567075	45567076	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr18:45567075_45567076insC	ENST00000588982.1	-	3	904_905	c.403_404insG	c.(403-405)gagfs	p.E135fs	ZBTB7C_ENST00000535628.2_Frame_Shift_Ins_p.E135fs|ZBTB7C_ENST00000590800.1_Frame_Shift_Ins_p.E135fs|ZBTB7C_ENST00000332053.2_Frame_Shift_Ins_p.E135fs|ZBTB7C_ENST00000586438.1_Frame_Shift_Ins_p.E135fs			A1YPR0	ZBT7C_HUMAN	zinc finger and BTB domain containing 7C	135	Asp-rich.|Glu-rich.						metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						gtcatcctcctcccccccgtcc	0.574																																						ENST00000588982.1																			0				endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						c.(403-405)ggafs		zinc finger and BTB domain containing 7C																																				SO:0001589	frameshift_variant	201501					intracellular	nucleic acid binding|zinc ion binding	g.chr18:45567075_45567076insC	Y14591	CCDS32830.1	18q21.1	2013-01-08		2005-04-07	ENSG00000184828	ENSG00000184828		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	31700	protein-coding gene	gene with protein product			"""zinc finger and BTB domain containing 36"""	ZBTB36			Standard	NM_001039360		Approved	ZNF857C	uc002ldb.3	A1YPR0		ENST00000588982.1:c.404dupG	18.37:g.45567082_45567082dupC	ENSP00000468782:p.Glu135fs		Somatic				ZBTB7C_ENST00000590800.1_Frame_Shift_Ins_p.G135fs|ZBTB7C_ENST00000586438.1_Frame_Shift_Ins_p.G135fs|ZBTB7C_ENST00000535628.2_Frame_Shift_Ins_p.G135fs|ZBTB7C_ENST00000332053.2_Frame_Shift_Ins_p.G135fs	p.G135fs			WXS	Illumina GAIIx	Phase_I	A1YPR0	ZBT7C_HUMAN			3	904_905	-			135			Asp-rich.|Glu-rich.		O73453	Frame_Shift_Ins	INS	ENST00000588982.1	37	c.403_404insG	CCDS32830.1																																																																																				0.574	ZBTB7C-025	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450731.1	NM_001039360		7	246						7	246	---	---	---	---
ZNF407	55628	broad.mit.edu	37	18	72343478	72343479	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr18:72343478_72343479insC	ENST00000299687.5	+	1	503_504	c.503_504insC	c.(502-507)ttccccfs	p.FP168fs	ZNF407_ENST00000582337.1_Frame_Shift_Ins_p.FP168fs|ZNF407_ENST00000309902.6_Frame_Shift_Ins_p.FP168fs|ZNF407_ENST00000577538.1_Frame_Shift_Ins_p.FP168fs	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	168					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		GAATCTCCTTTCCCCCCGAAAG	0.396																																						ENST00000299687.5																			0				central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67						c.(502-504)tccfs		zinc finger protein 407																																				SO:0001589	frameshift_variant	55628				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:72343478_72343479insC	AB051490	CCDS45885.1, CCDS54191.1, CCDS58634.1	18q23	2013-01-08			ENSG00000215421	ENSG00000215421		"""Zinc fingers, C2H2-type"""	19904	protein-coding gene	gene with protein product		615894				11214970	Standard	NM_017757		Approved	FLJ20307, FLJ13839, KIAA1703	uc002llw.2	Q9C0G0		ENST00000299687.5:c.509dupC	18.37:g.72343484_72343484dupC	ENSP00000299687:p.Phe168fs		Somatic				ZNF407_ENST00000582337.1_Frame_Shift_Ins_p.S168fs|ZNF407_ENST00000577538.1_Frame_Shift_Ins_p.S168fs|ZNF407_ENST00000309902.6_Frame_Shift_Ins_p.S168fs	p.S168fs	NM_017757.2	NP_060227.2	WXS	Illumina GAIIx	Phase_I	Q9C0G0	ZN407_HUMAN		BRCA - Breast invasive adenocarcinoma(31;0.184)	1	503_504	+		Esophageal squamous(42;0.131)|Prostate(75;0.173)	168					B5MD54|Q96MY0|Q9H8A1|Q9NXD4|Q9NXD7	Frame_Shift_Ins	INS	ENST00000299687.5	37	c.503_504insC	CCDS45885.1																																																																																				0.396	ZNF407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444903.1	NM_017757		7	175						7	175	---	---	---	---
LRG1	116844	broad.mit.edu	37	19	4538452	4538453	+	Frame_Shift_Ins	INS	-	-	G	rs371534593|rs545216965		TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr19:4538452_4538453insG	ENST00000306390.6	-	2	1003_1004	c.543_544insC	c.(541-546)cccgggfs	p.G182fs	LRG1_ENST00000586883.1_5'Flank|CTB-50L17.14_ENST00000586020.1_Intron	NM_052972.2	NP_443204.1	P02750	A2GL_HUMAN	leucine-rich alpha-2-glycoprotein 1	182					brown fat cell differentiation (GO:0050873)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				NS(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCAGCAGCCCGGGGGGCAGTT	0.619																																						ENST00000306390.6																			0				NS(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13						c.(541-546)ccggctfs		leucine-rich alpha-2-glycoprotein 1																																				SO:0001589	frameshift_variant	116844					extracellular region|membrane		g.chr19:4538452_4538453insG		CCDS12130.1	19p13.3	2013-09-20			ENSG00000171236	ENSG00000171236			29480	protein-coding gene	gene with protein product	"""leucine rich alpha 2 glycoprotein"""	611289				3856868, 12223515	Standard	NM_052972		Approved	LRG	uc002mau.3	P02750	OTTHUMG00000182010	ENST00000306390.6:c.544dupC	19.37:g.4538458_4538458dupG	ENSP00000302621:p.Gly182fs		Somatic				CTB-50L17.14_ENST00000586020.1_Intron	p.A182fs	NM_052972.2	NP_443204.1	WXS	Illumina GAIIx	Phase_I	P02750	A2GL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)	2	1003_1004	-		Hepatocellular(1079;0.137)	182					Q8N4F5|Q96QZ4	Frame_Shift_Ins	INS	ENST00000306390.6	37	c.543_544insC	CCDS12130.1																																																																																				0.619	LRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458654.2	NM_052972		10	367						10	367	---	---	---	---
TUBB4A	10382	broad.mit.edu	37	19	6496087	6496088	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr19:6496087_6496088insC	ENST00000264071.2	-	4	793_794	c.422_423insG	c.(421-423)ggtfs	p.G141fs	TUBB4A_ENST00000598006.1_3'UTR|TUBB4A_ENST00000540257.1_Frame_Shift_Ins_p.G141fs|TUBB4A_ENST00000601152.1_3'UTR|CTD-2396E7.9_ENST00000599292.1_RNA|CTD-2396E7.10_ENST00000596027.1_RNA			P04350	TBB4A_HUMAN	tubulin, beta 4A class IVa	141					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based process (GO:0007017)|mitotic cell cycle (GO:0000278)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|internode region of axon (GO:0033269)|microtubule (GO:0005874)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)										ACCCCGTGCCACCCCCCAGCGA	0.649																																						ENST00000264071.2																			0											c.(421-423)gggfs		tubulin, beta 4A class IVa																																				SO:0001589	frameshift_variant	10382				'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr19:6496087_6496088insC	AK075307	CCDS12168.1	19p13.3	2014-02-05	2011-10-11	2011-10-10	ENSG00000104833	ENSG00000104833		"""Tubulins"""	20774	protein-coding gene	gene with protein product	"""class IVa beta-tubulin"""	602662	"""tubulin, beta 4"", ""tubulin, beta 4 class IVa"", ""dystonia 4, torsion (autosomal dominant)"""	TUBB4, DYT4		6865944, 6462917, 23595291	Standard	NM_001289123		Approved	beta-5	uc002mfg.1	P04350		ENST00000264071.2:c.423dupG	19.37:g.6496093_6496093dupC	ENSP00000264071:p.Gly141fs		Somatic				TUBB4A_ENST00000598006.1_3'UTR|TUBB4A_ENST00000601152.1_3'UTR|TUBB4A_ENST00000540257.1_Frame_Shift_Ins_p.G141fs	p.G141fs			WXS	Illumina GAIIx	Phase_I	P04350	TBB4_HUMAN			4	793_794	-			141					B3KQP4|Q969E5	Frame_Shift_Ins	INS	ENST00000264071.2	37	c.422_423insG	CCDS12168.1																																																																																				0.649	TUBB4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457841.1	NM_006087		10	225						10	225	---	---	---	---
C3	718	broad.mit.edu	37	19	6697480	6697481	+	Frame_Shift_Ins	INS	-	-	G	rs137956083	byFrequency	TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr19:6697480_6697481insG	ENST00000245907.6	-	21	2762_2763	c.2670_2671insC	c.(2668-2673)cccaagfs	p.K891fs		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	891					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)			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)	AACGAGGACTTGGGGGGGATGG	0.574																																						ENST00000245907.6																			0				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						c.(2668-2673)ccagtcfs		complement component 3																																				SO:0001589	frameshift_variant	718				complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding	g.chr19:6697480_6697481insG	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.2671dupC	19.37:g.6697487_6697487dupG	ENSP00000245907:p.Lys891fs		Somatic					p.V891fs	NM_000064.2	NP_000055.2	WXS	Illumina GAIIx	Phase_I	P01024	CO3_HUMAN		GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	21	2762_2763	-			891					A7E236	Frame_Shift_Ins	INS	ENST00000245907.6	37	c.2670_2671insC	CCDS32883.1																																																																																				0.574	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317636.2	NM_000064		11	127						11	127	---	---	---	---
SH2D3A	10045	broad.mit.edu	37	19	6755179	6755180	+	Frame_Shift_Ins	INS	-	-	G	rs139813452		TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr19:6755179_6755180insG	ENST00000245908.6	-	5	912_913	c.643_644insC	c.(643-645)cggfs	p.R215fs	SH2D3A_ENST00000599563.1_5'UTR|SH2D3A_ENST00000437152.3_Frame_Shift_Ins_p.R93fs	NM_005490.2	NP_005481.2	Q9BRG2	SH23A_HUMAN	SH2 domain containing 3A	215					JNK cascade (GO:0007254)|positive regulation of signal transduction (GO:0009967)|small GTPase mediated signal transduction (GO:0007264)		guanyl-nucleotide exchange factor activity (GO:0005085)|SH3/SH2 adaptor activity (GO:0005070)			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|urinary_tract(1)	24						GGAGGGTGTCCGGGGGGGCTTC	0.653																																						ENST00000245908.6																			0				breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|urinary_tract(1)	24						c.(643-645)gacfs		SH2 domain containing 3A																																				SO:0001589	frameshift_variant	10045				JNK cascade|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	g.chr19:6755179_6755180insG	AF124249	CCDS12173.1	19p13.3	2013-02-14	2002-01-14			ENSG00000125731		"""SH2 domain containing"""	16885	protein-coding gene	gene with protein product		604721	"""SH2 domain-containing 3A"""			10187783	Standard	NM_005490		Approved	NSP1	uc002mft.3	Q9BRG2		ENST00000245908.6:c.644dupC	19.37:g.6755186_6755186dupG	ENSP00000245908:p.Arg215fs		Somatic				SH2D3A_ENST00000437152.3_Frame_Shift_Ins_p.D93fs|SH2D3A_ENST00000599563.1_5'UTR	p.D215fs	NM_005490.2	NP_005481.2	WXS	Illumina GAIIx	Phase_I	Q9BRG2	SH23A_HUMAN			5	912_913	-			215					A8K9R6|B4DRS7|Q9Y2X4	Frame_Shift_Ins	INS	ENST00000245908.6	37	c.643_644insC	CCDS12173.1																																																																																				0.653	SH2D3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458016.1	NM_005490		33	497						33	497	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9059376	9059377	+	Frame_Shift_Ins	INS	-	-	G	rs367566747		TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr19:9059376_9059377insG	ENST00000397910.4	-	3	28272_28273	c.28069_28070insC	c.(28069-28071)ctcfs	p.L9357fs		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9359	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TTTCCTTGTGAGGGGGGTAGAA	0.51																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(28069-28071)cacfs		mucin 16, cell surface associated																																				SO:0001589	frameshift_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9059376_9059377insG	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.28070dupC	19.37:g.9059382_9059382dupG	ENSP00000381008:p.Leu9357fs		Somatic					p.H9357fs	NM_024690.2	NP_078966.2	WXS	Illumina GAIIx	Phase_I	Q8WXI7	MUC16_HUMAN			3	28272_28273	-			9359			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Frame_Shift_Ins	INS	ENST00000397910.4	37	c.28069_28070insC	CCDS54212.1																																																																																				0.510	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		7	403						7	403	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9064309	9064310	+	Frame_Shift_Ins	INS	-	-	G	rs558504850	byFrequency	TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr19:9064309_9064310insG	ENST00000397910.4	-	3	23339_23340	c.23136_23137insC	c.(23134-23139)ccctctfs	p.S7713fs		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7715	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGAAGGGGAGAGGGGGGGATAT	0.53																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(23134-23139)ccctccfs		mucin 16, cell surface associated																																				SO:0001589	frameshift_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9064309_9064310insG	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.23137dupC	19.37:g.9064316_9064316dupG	ENSP00000381008:p.Ser7713fs		Somatic					p.S7713fs	NM_024690.2	NP_078966.2	WXS	Illumina GAIIx	Phase_I	Q8WXI7	MUC16_HUMAN			3	23339_23340	-			7715			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Frame_Shift_Ins	INS	ENST00000397910.4	37	c.23136_23137insC	CCDS54212.1																																																																																				0.530	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		9	482						9	482	---	---	---	---
ZNF878	729747	broad.mit.edu	37	19	12155708	12155709	+	Frame_Shift_Ins	INS	-	-	T	rs375738139		TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr19:12155708_12155709insT	ENST00000547628.1	-	4	644_645	c.507_508insA	c.(505-510)aaacccfs	p.P170fs	CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.2_ENST00000591838.1_RNA|CTD-2006C1.10_ENST00000547473.1_Intron|ZNF878_ENST00000602107.1_Frame_Shift_Ins_p.P217fs|CTD-2006C1.2_ENST00000591898.1_RNA	NM_001080404.2	NP_001073873.2	C9JN71	ZN878_HUMAN	zinc finger protein 878	170					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						CATTCATAGGGTTTTTTTGCAG	0.411																																						ENST00000602107.1																			0				cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						c.(646-651)aacctafs		zinc finger protein 878																																				SO:0001589	frameshift_variant	729747				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr19:12155708_12155709insT		CCDS45984.1, CCDS45984.2	19p13.2	2013-01-08				ENSG00000257446		"""Zinc fingers, C2H2-type"", ""-"""	37246	protein-coding gene	gene with protein product							Standard	NM_001080404		Approved		uc021upl.1	C9JN71		ENST00000547628.1:c.508dupA	19.37:g.12155715_12155715dupT	ENSP00000447931:p.Pro170fs		Somatic				CTD-2006C1.2_ENST00000591898.1_RNA|ZNF878_ENST00000547628.1_Frame_Shift_Ins_p.NL169fs|CTD-2006C1.10_ENST00000547473.1_Intron|CTD-2006C1.2_ENST00000591838.1_RNA|CTD-2006C1.2_ENST00000476474.1_RNA	p.NL216fs			WXS	Illumina GAIIx	Phase_I	C9JN71	ZN878_HUMAN			5	647_648	-			169						Frame_Shift_Ins	INS	ENST00000547628.1	37	c.648_649insA	CCDS45984.2																																																																																				0.411	ZNF878-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403723.1	NM_001080404		7	468						7	468	---	---	---	---
TSHZ3	57616	broad.mit.edu	37	19	31769061	31769062	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr19:31769061_31769062insC	ENST00000240587.4	-	2	1964_1965	c.1637_1638insG	c.(1636-1638)ggcfs	p.G546fs		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	546					in utero embryonic development (GO:0001701)|kidney morphogenesis (GO:0060993)|kidney smooth muscle cell differentiation (GO:0072195)|lung development (GO:0030324)|metanephros development (GO:0001656)|musculoskeletal movement (GO:0050881)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of smooth muscle cell differentiation (GO:0051152)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|sensory perception of touch (GO:0050975)|transcription, DNA-templated (GO:0006351)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)|ureteric peristalsis (GO:0072105)	growth cone (GO:0030426)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					TGCTGGGATAGCCCCCCCAGCT	0.559																																						ENST00000240587.4																			0				breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123						c.(1636-1638)gtafs		teashirt zinc finger homeobox 3				4,4260		0,4,2128						4.2	1.0			120	7,8247		0,7,4120	no	frameshift	TSHZ3	NM_020856.2		0,11,6248	A1A1,A1R,RR		0.0848,0.0938,0.0879				11,12507				SO:0001589	frameshift_variant	57616				negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:31769061_31769062insC	AL136805	CCDS12421.2	19q13.11	2013-11-20	2007-07-16	2006-03-14	ENSG00000121297	ENSG00000121297		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	30700	protein-coding gene	gene with protein product	"""teashirt 3"""	614119	"""zinc finger protein 537"", ""teashirt family zinc finger 3"""	ZNF537			Standard	NM_020856		Approved	KIAA1474, TSH3	uc002nsy.4	Q63HK5	OTTHUMG00000150184	ENST00000240587.4:c.1638dupG	19.37:g.31769068_31769068dupC	ENSP00000240587:p.Gly546fs		Somatic					p.V546fs	NM_020856.2	NP_065907.2	WXS	Illumina GAIIx	Phase_I	Q63HK5	TSH3_HUMAN			2	1964_1965	-	Esophageal squamous(110;0.226)		546					Q9H0G6|Q9P254	Frame_Shift_Ins	INS	ENST00000240587.4	37	c.1637_1638insG	CCDS12421.2																																																																																				0.559	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316743.2	NM_020856		16	378						16	378	---	---	---	---
TSHZ3	57616	broad.mit.edu	37	19	31769141	31769142	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr19:31769141_31769142insC	ENST00000240587.4	-	2	1884_1885	c.1557_1558insG	c.(1555-1560)gggcttfs	p.L520fs		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	520					in utero embryonic development (GO:0001701)|kidney morphogenesis (GO:0060993)|kidney smooth muscle cell differentiation (GO:0072195)|lung development (GO:0030324)|metanephros development (GO:0001656)|musculoskeletal movement (GO:0050881)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of smooth muscle cell differentiation (GO:0051152)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|sensory perception of touch (GO:0050975)|transcription, DNA-templated (GO:0006351)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)|ureteric peristalsis (GO:0072105)	growth cone (GO:0030426)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					AGGATATCAAGCCCCCCCTTGG	0.5																																						ENST00000240587.4																			0				breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123						c.(1555-1560)ggttgafs		teashirt zinc finger homeobox 3																																				SO:0001589	frameshift_variant	57616				negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:31769141_31769142insC	AL136805	CCDS12421.2	19q13.11	2013-11-20	2007-07-16	2006-03-14	ENSG00000121297	ENSG00000121297		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	30700	protein-coding gene	gene with protein product	"""teashirt 3"""	614119	"""zinc finger protein 537"", ""teashirt family zinc finger 3"""	ZNF537			Standard	NM_020856		Approved	KIAA1474, TSH3	uc002nsy.4	Q63HK5	OTTHUMG00000150184	ENST00000240587.4:c.1558dupG	19.37:g.31769148_31769148dupC	ENSP00000240587:p.Leu520fs		Somatic					p.*520fs	NM_020856.2	NP_065907.2	WXS	Illumina GAIIx	Phase_I	Q63HK5	TSH3_HUMAN			2	1884_1885	-	Esophageal squamous(110;0.226)		520					Q9H0G6|Q9P254	Frame_Shift_Ins	INS	ENST00000240587.4	37	c.1557_1558insG	CCDS12421.2																																																																																				0.500	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316743.2	NM_020856		13	588						13	588	---	---	---	---
CD22	933	broad.mit.edu	37	19	35832248	35832249	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr19:35832248_35832249insC	ENST00000085219.5	+	8	1576_1577	c.1510_1511insC	c.(1510-1512)gccfs	p.A504fs	CD22_ENST00000544992.2_Frame_Shift_Ins_p.A504fs|CD22_ENST00000419549.2_Frame_Shift_Ins_p.A332fs|CD22_ENST00000270311.6_Frame_Shift_Ins_p.A384fs|CD22_ENST00000341773.6_Frame_Shift_Ins_p.A327fs|CD22_ENST00000594250.1_Frame_Shift_Ins_p.A327fs|CD22_ENST00000536635.2_Frame_Shift_Ins_p.A416fs	NM_001771.3	NP_001762.2	P20273	CD22_HUMAN	CD22 molecule	504					cell adhesion (GO:0007155)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)			breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			CCCTCCAGATGCCCCCCGAGAC	0.619																																					Ovarian(42;1009 1133 23674 26041)	ENST00000085219.5																			0				breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54						c.(1510-1512)cccfs		CD22 molecule	OspA lipoprotein(DB00045)																																			SO:0001589	frameshift_variant	933				cell adhesion		protein binding|sugar binding	g.chr19:35832248_35832249insC	X52785	CCDS12457.1, CCDS54247.1, CCDS54248.1, CCDS54249.1, CCDS62634.1	19q13.1	2013-01-29	2006-03-28		ENSG00000012124	ENSG00000012124		"""CD molecules"", ""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1643	protein-coding gene	gene with protein product	"""sialic acid binding Ig-like lectin 2"""	107266	"""CD22 antigen"""			8496602, 1691828	Standard	NM_001185099		Approved	SIGLEC-2, SIGLEC2	uc010edt.3	P20273		ENST00000085219.5:c.1516dupC	19.37:g.35832254_35832254dupC	ENSP00000085219:p.Ala504fs		Somatic				CD22_ENST00000419549.2_Frame_Shift_Ins_p.P332fs|CD22_ENST00000341773.6_Frame_Shift_Ins_p.P327fs|CD22_ENST00000270311.6_Frame_Shift_Ins_p.P384fs|CD22_ENST00000594250.1_Frame_Shift_Ins_p.P327fs|CD22_ENST00000544992.2_Frame_Shift_Ins_p.P504fs|CD22_ENST00000536635.2_Frame_Shift_Ins_p.P416fs	p.P504fs	NM_001771.3	NP_001762.2	WXS	Illumina GAIIx	Phase_I	P20273	CD22_HUMAN	Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		8	1576_1577	+	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		504					F5GYU4|F5H7U3|O95699|O95701|O95702|O95703|Q01665|Q32M46|Q92872|Q92873|Q9UQA6|Q9UQA7|Q9UQA8|Q9UQA9|Q9UQB0|Q9Y2A6	Frame_Shift_Ins	INS	ENST00000085219.5	37	c.1510_1511insC	CCDS12457.1																																																																																				0.619	CD22-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466099.1	NM_001771		7	213						7	213	---	---	---	---
RYR1	6261	broad.mit.edu	37	19	39008211	39008212	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr19:39008211_39008212insC	ENST00000359596.3	+	66	9898_9899	c.9898_9899insC	c.(9898-9900)gccfs	p.A3300fs	RYR1_ENST00000360985.3_Frame_Shift_Ins_p.A3300fs|RYR1_ENST00000355481.4_Frame_Shift_Ins_p.A3300fs			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	3300					calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	GCCCGCCGGCGCCCCCCCACCC	0.658																																						ENST00000355481.4																			0				NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285						c.(9898-9900)cccfs		ryanodine receptor 1 (skeletal)	Dantrolene(DB01219)																																			SO:0001589	frameshift_variant	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:39008211_39008212insC	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.9905dupC	19.37:g.39008218_39008218dupC	ENSP00000352608:p.Ala3300fs		Somatic				RYR1_ENST00000360985.3_Frame_Shift_Ins_p.P3300fs|RYR1_ENST00000359596.3_Frame_Shift_Ins_p.P3300fs	p.P3300fs	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	WXS	Illumina GAIIx	Phase_I	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		66	10029_10030	+	all_cancers(60;7.91e-06)		3300					Q16314|Q16368|Q9NPK1|Q9P1U4	Frame_Shift_Ins	INS	ENST00000359596.3	37	c.9898_9899insC	CCDS33011.1																																																																																				0.658	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			7	52						7	52	---	---	---	---
FCGBP	8857	broad.mit.edu	37	19	40433821	40433822	+	Frame_Shift_Ins	INS	-	-	G	rs375117067		TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr19:40433821_40433822insG	ENST00000221347.6	-	2	454_455	c.447_448insC	c.(445-450)cccggcfs	p.G150fs		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	150	IgGFc-binding.					extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GCTGAGGTGCCGGGGGGTGTGA	0.604																																						ENST00000221347.6																			0				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165						c.(445-450)ccgcacfs		Fc fragment of IgG binding protein																																				SO:0001589	frameshift_variant	8857					extracellular region	protein binding	g.chr19:40433821_40433822insG	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.448dupC	19.37:g.40433827_40433827dupG	ENSP00000221347:p.Gly150fs		Somatic					p.H150fs	NM_003890.2	NP_003881.2	WXS	Illumina GAIIx	Phase_I	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		2	454_455	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		150			IgGFc-binding.		O95784	Frame_Shift_Ins	INS	ENST00000221347.6	37	c.447_448insC	CCDS12546.1																																																																																				0.604	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		7	144						7	144	---	---	---	---
C19orf47	126526	broad.mit.edu	37	19	40834398	40834399	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr19:40834398_40834399insG	ENST00000582783.1	-	6	483_484	c.471_472insC	c.(469-474)cccaggfs	p.R158fs	C19orf47_ENST00000392035.2_Frame_Shift_Ins_p.R91fs	NM_001256440.1	NP_001243369.1	Q8N9M1	CS047_HUMAN	chromosome 19 open reading frame 47	158						nucleus (GO:0005634)				endometrium(5)|kidney(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20			Lung(22;0.000636)			TCCGGGCGCCTGGGGGGTGTGC	0.614																																						ENST00000582783.1																			0				endometrium(5)|kidney(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20						c.(469-474)ccggcgfs		chromosome 19 open reading frame 47																																				SO:0001589	frameshift_variant	126526							g.chr19:40834398_40834399insG	AL834131	CCDS58662.1	19q13.2	2012-07-20			ENSG00000160392	ENSG00000160392			26723	protein-coding gene	gene with protein product						12477932	Standard	NM_001256440		Approved	FLJ36888	uc002oni.5	Q8N9M1	OTTHUMG00000179028	ENST00000582783.1:c.472dupC	19.37:g.40834404_40834404dupG	ENSP00000463159:p.Arg158fs		Somatic				C19orf47_ENST00000392035.2_Frame_Shift_Ins_p.A91fs	p.A158fs	NM_001256440.1	NP_001243369.1	WXS	Illumina GAIIx	Phase_I	Q8N9M1	CS047_HUMAN	Lung(22;0.000636)		6	483_484	-			158					Q8IZ33|Q8N0V9	Frame_Shift_Ins	INS	ENST00000582783.1	37	c.471_472insC	CCDS58662.1																																																																																				0.614	C19orf47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444488.1	NM_178830		10	695						10	695	---	---	---	---
CCDC97	90324	broad.mit.edu	37	19	41825594	41825595	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr19:41825594_41825595insC	ENST00000269967.3	+	3	740_741	c.618_619insC	c.(619-621)cccfs	p.P207fs		NM_052848.1	NP_443080.1	Q96F63	CCD97_HUMAN	coiled-coil domain containing 97	207										biliary_tract(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)	17						CAACCCACCAGCCCCCCAAGCC	0.649																																						ENST00000269967.3																			0				biliary_tract(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)	17						c.(616-621)caccccfs		coiled-coil domain containing 97																																				SO:0001589	frameshift_variant	90324							g.chr19:41825594_41825595insC	BC011577	CCDS12578.1	19q13.2	2008-02-05							28289	protein-coding gene	gene with protein product						12477932	Standard	NM_052848		Approved	FLJ40267, MGC20255	uc002oqg.3	Q96F63		ENST00000269967.3:c.624dupC	19.37:g.41825600_41825600dupC	ENSP00000269967:p.Pro207fs		Somatic					p.HP206fs	NM_052848.1	NP_443080.1	WXS	Illumina GAIIx	Phase_I	Q96F63	CCD97_HUMAN			3	740_741	+			206					Q658N6|Q96IF3	Frame_Shift_Ins	INS	ENST00000269967.3	37	c.618_619insC	CCDS12578.1																																																																																				0.649	CCDC97-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463293.1	NM_052848		8	267						8	267	---	---	---	---
CEACAM5	1048	broad.mit.edu	37	19	42224865	42224866	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr19:42224865_42224866insC	ENST00000221992.6	+	8	1909_1910	c.1795_1796insC	c.(1795-1797)tccfs	p.S599fs	CEACAM5_ENST00000398599.4_Frame_Shift_Ins_p.S598fs|CEA_ENST00000598976.1_Intron|CEACAM5_ENST00000405816.1_Frame_Shift_Ins_p.S599fs	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 5	599	Ig-like 7.				homotypic cell-cell adhesion (GO:0034109)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of myotube differentiation (GO:0010832)	anchored component of membrane (GO:0031225)|basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of external side of plasma membrane (GO:0071575)|integral component of plasma membrane (GO:0005887)	GPI anchor binding (GO:0034235)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		CCCCATCATTTCCCCCCCAGAC	0.545																																						ENST00000221992.6																			0				breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34						c.(1795-1797)cccfs		carcinoembryonic antigen-related cell adhesion molecule 5																																				SO:0001589	frameshift_variant	1048					anchored to membrane|basolateral plasma membrane|integral to plasma membrane		g.chr19:42224865_42224866insC	M17303	CCDS12584.1	19q13.1-q13.2	2013-01-29			ENSG00000105388	ENSG00000105388		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1817	protein-coding gene	gene with protein product		114890		CEA			Standard	XM_005258413		Approved	CD66e	uc002orl.3	P06731	OTTHUMG00000151061	ENST00000221992.6:c.1802dupC	19.37:g.42224872_42224872dupC	ENSP00000221992:p.Ser599fs		Somatic				CEACAM5_ENST00000398599.4_Frame_Shift_Ins_p.P598fs|CEA_ENST00000598976.1_Intron|CEACAM5_ENST00000405816.1_Frame_Shift_Ins_p.P599fs	p.P599fs	NM_004363.2	NP_004354.2	WXS	Illumina GAIIx	Phase_I	P06731	CEAM5_HUMAN		OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)	8	1909_1910	+			599			Ig-like 7.		H9KVA7	Frame_Shift_Ins	INS	ENST00000221992.6	37	c.1795_1796insC	CCDS12584.1																																																																																				0.545	CEACAM5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321132.2	NM_004363		12	289						12	289	---	---	---	---
PSG7	5676	broad.mit.edu	37	19	43439519	43439520	+	RNA	INS	-	-	C	rs59911953	byFrequency	TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr19:43439519_43439520insC	ENST00000406070.2	-	0	527				PSG7_ENST00000471557.1_RNA|PSG7_ENST00000446844.3_RNA	NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy (GO:0007565)	extracellular region (GO:0005576)							Prostate(69;0.00682)				AATGACCCCTGCCCCCCAACAC	0.515																																						ENST00000446844.3																			0													pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)																																						5676				female pregnancy	extracellular region		g.chr19:43439519_43439520insC			19q13.2	2013-01-29	2010-02-26		ENSG00000221878	ENSG00000221878		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9524	protein-coding gene	gene with protein product		176396	"""pregnancy specific beta-1-glycoprotein 7"""				Standard	NM_002783		Approved		uc010xwl.2	Q13046	OTTHUMG00000151125		19.37:g.43439525_43439525dupC			Somatic				PSG7_ENST00000406070.2_RNA				WXS	Illumina GAIIx	Phase_I	Q13046	PSG7_HUMAN			0	520	-		Prostate(69;0.00682)						Q15232	RNA	INS	ENST00000406070.2	37																																																																																						0.515	PSG7-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000321431.2	NM_001206650		10	771						10	771	---	---	---	---
CLASRP	11129	broad.mit.edu	37	19	45556128	45556129	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr19:45556128_45556129insC	ENST00000221455.3	+	4	375_376	c.277_278insC	c.(277-279)accfs	p.T93fs	CLASRP_ENST00000544944.2_Frame_Shift_Ins_p.T93fs|CLASRP_ENST00000391953.4_Intron	NM_007056.2	NP_008987	Q8N2M8	CLASR_HUMAN	CLK4-associating serine/arginine rich protein	93					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)		p.L96fs*17(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|pancreas(2)|prostate(1)	16						CCCCGACTACACCCCCCCTCTG	0.614																																						ENST00000544944.2																			1	Insertion - Frameshift(1)	p.L96fs*17(1)	lung(1)	breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|pancreas(2)|prostate(1)	16						c.(277-279)cccfs		CLK4-associating serine/arginine rich protein																																				SO:0001589	frameshift_variant	11129				mRNA processing|RNA splicing	nucleus		g.chr19:45556128_45556129insC	AF042800	CCDS12652.2, CCDS62710.1	19q13.3	2010-09-21	2010-09-21	2010-09-21	ENSG00000104859	ENSG00000104859			17731	protein-coding gene	gene with protein product	"""Clk4 associating SR-related protein"""		"""splicing factor, arginine/serine-rich 16"""	SFRS16		12169693	Standard	NM_007056		Approved	SWAP2, CLASP	uc002pak.3	Q8N2M8	OTTHUMG00000150189	ENST00000221455.3:c.284dupC	19.37:g.45556135_45556135dupC	ENSP00000221455:p.Thr93fs		Somatic				CLASRP_ENST00000221455.3_Frame_Shift_Ins_p.P93fs|CLASRP_ENST00000391953.4_Intron	p.P93fs			WXS	Illumina GAIIx	Phase_I	Q8N2M8	CLASR_HUMAN			3	969_970	+			93					B4DDT8|F8WAG9|O96026|Q6UW71|Q96DX2	Frame_Shift_Ins	INS	ENST00000221455.3	37	c.277_278insC	CCDS12652.2																																																																																				0.614	CLASRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316749.1	NM_007056		7	147						7	147	---	---	---	---
SLC8A2	6543	broad.mit.edu	37	19	47935586	47935587	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr19:47935586_47935587insG	ENST00000236877.6	-	9	2621_2622	c.2226_2227insC	c.(2224-2229)cccaccfs	p.T743fs	SLC8A2_ENST00000539381.1_Frame_Shift_Ins_p.T206fs|SLC8A2_ENST00000542837.1_Frame_Shift_Ins_p.T499fs|SLC8A2_ENST00000601757.1_5'Flank	NM_015063.2	NP_055878.1	Q9UPR5	NAC2_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 2	743					blood coagulation (GO:0007596)|cell communication (GO:0007154)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium:sodium antiporter activity (GO:0005432)			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		CAGTACTCGGTGGGGGGCACAC	0.649																																						ENST00000236877.6																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31						c.(2224-2229)ccccgafs		solute carrier family 8 (sodium/calcium exchanger), member 2																																				SO:0001589	frameshift_variant	6543				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding	g.chr19:47935586_47935587insG	AB029010	CCDS33065.1	19q13.32	2013-07-15	2008-09-02		ENSG00000118160	ENSG00000118160		"""Solute carriers"""	11069	protein-coding gene	gene with protein product		601901				8021246	Standard	NM_015063		Approved	NCX2, KIAA1087	uc002pgx.3	Q9UPR5	OTTHUMG00000183529	ENST00000236877.6:c.2227dupC	19.37:g.47935592_47935592dupG	ENSP00000236877:p.Thr743fs		Somatic				SLC8A2_ENST00000542837.1_Frame_Shift_Ins_p.R499fs|SLC8A2_ENST00000539381.1_Frame_Shift_Ins_p.R206fs	p.R743fs	NM_015063.2	NP_055878.1	WXS	Illumina GAIIx	Phase_I	Q9UPR5	NAC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)	9	2621_2622	-		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)	743					B4DYQ9	Frame_Shift_Ins	INS	ENST00000236877.6	37	c.2226_2227insC	CCDS33065.1																																																																																				0.649	SLC8A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466997.1			8	293						8	293	---	---	---	---
CARD8	22900	broad.mit.edu	37	19	48737669	48737670	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr19:48737669_48737670insC	ENST00000359009.4	-	3	378_379	c.66_67insG	c.(64-69)gggacafs	p.T23fs	CARD8_ENST00000520753.1_Frame_Shift_Ins_p.D114fs|CARD8_ENST00000520015.1_Frame_Shift_Ins_p.D114fs|ZNF114_ENST00000597695.1_Intron|CARD8_ENST00000391898.3_Frame_Shift_Ins_p.D114fs|CARD8_ENST00000520153.1_Frame_Shift_Ins_p.D64fs|CARD8_ENST00000521613.1_Frame_Shift_Ins_p.D64fs|CARD8_ENST00000447740.2_Frame_Shift_Ins_p.D64fs|CARD8_ENST00000519940.1_Frame_Shift_Ins_p.D114fs|CARD8_ENST00000357778.5_5'UTR			Q9Y2G2	CARD8_HUMAN	caspase recruitment domain family, member 8	23					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)	cytoplasm (GO:0005737)|NLRP3 inflammasome complex (GO:0072559)|nucleus (GO:0005634)	cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|NACHT domain binding (GO:0032089)|protein homodimerization activity (GO:0042803)			endometrium(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	15		all_lung(116;0.000112)|Lung NSC(112;0.000192)|all_epithelial(76;0.000349)|all_neural(266;0.0228)|Ovarian(192;0.113)|Prostate(7;0.184)		OV - Ovarian serous cystadenocarcinoma(262;0.000112)|all cancers(93;0.000293)|Epithelial(262;0.0129)|GBM - Glioblastoma multiforme(486;0.0336)		CCTGGGAATGTCCCCCCCAGAT	0.436																																						ENST00000391898.3																			0				endometrium(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	15						c.(340-342)catfs		caspase recruitment domain family, member 8																																				SO:0001589	frameshift_variant	22900				negative regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion	cytoplasm|nucleus	caspase activator activity|NACHT domain binding|protein homodimerization activity	g.chr19:48737669_48737670insC	AB023172	CCDS12712.1, CCDS12712.2, CCDS54287.1, CCDS54288.1, CCDS54289.1	19q13.33	2011-05-24			ENSG00000105483	ENSG00000105483			17057	protein-coding gene	gene with protein product		609051				10231032, 11408476	Standard	NM_001184900		Approved	TUCAN, KIAA0955, CARDINAL, NDPP, Dakar	uc010xzj.2	Q9Y2G2	OTTHUMG00000165047	ENST00000359009.4:c.67dupG	19.37:g.48737676_48737676dupC	ENSP00000351901:p.Thr23fs		Somatic				ZNF114_ENST00000597695.1_Intron|CARD8_ENST00000357778.5_5'UTR|CARD8_ENST00000520015.1_Frame_Shift_Ins_p.H114fs|CARD8_ENST00000520153.1_Frame_Shift_Ins_p.H64fs|CARD8_ENST00000521613.1_Frame_Shift_Ins_p.H64fs|CARD8_ENST00000359009.4_Frame_Shift_Ins_p.I23fs|CARD8_ENST00000519940.1_Frame_Shift_Ins_p.H114fs|CARD8_ENST00000520753.1_Frame_Shift_Ins_p.H114fs|CARD8_ENST00000447740.2_Frame_Shift_Ins_p.H64fs	p.H114fs	NM_001184900.1	NP_001171829.1	WXS	Illumina GAIIx	Phase_I	Q9Y2G2	CARD8_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000112)|all cancers(93;0.000293)|Epithelial(262;0.0129)|GBM - Glioblastoma multiforme(486;0.0336)	3	382_383	-		all_lung(116;0.000112)|Lung NSC(112;0.000192)|all_epithelial(76;0.000349)|all_neural(266;0.0228)|Ovarian(192;0.113)|Prostate(7;0.184)	0					B5KVR6|B7Z496|B7Z4A2|E9PEM7|G3XAM9|Q6PGP8|Q96P82	Frame_Shift_Ins	INS	ENST00000359009.4	37	c.340_341insG																																																																																					0.436	CARD8-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_014959		11	195						11	195	---	---	---	---
TSKS	60385	broad.mit.edu	37	19	50243063	50243064	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr19:50243063_50243064insG	ENST00000246801.3	-	11	1830_1831	c.1748_1749insC	c.(1747-1749)ccafs	p.P583fs	TSKS_ENST00000358830.3_Frame_Shift_Ins_p.P383fs	NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN	testis-specific serine kinase substrate	583					negative regulation of phosphatase activity (GO:0010923)	centriole (GO:0005814)	protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		CCCCCTGTTTTGGGGGGGTTCC	0.545																																						ENST00000246801.3																			0				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38						c.(1747-1749)caafs		testis-specific serine kinase substrate																																				SO:0001589	frameshift_variant	60385						protein binding	g.chr19:50243063_50243064insG	BC058862	CCDS12780.1	19q13.3	2014-06-13							30719	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 161"""	608253				11444856, 18495105	Standard	NM_021733		Approved	TSSKS, PPP1R161	uc002ppm.3	Q9UJT2		ENST00000246801.3:c.1749dupC	19.37:g.50243070_50243070dupG	ENSP00000246801:p.Pro583fs		Somatic				TSKS_ENST00000358830.3_Frame_Shift_Ins_p.Q383fs	p.Q583fs	NM_021733.1	NP_068379.1	WXS	Illumina GAIIx	Phase_I	Q9UJT2	TSKS_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)	11	1830_1831	-		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)	583					Q8WXJ0	Frame_Shift_Ins	INS	ENST00000246801.3	37	c.1748_1749insC	CCDS12780.1																																																																																				0.545	TSKS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465795.1	NM_021733		16	359						16	359	---	---	---	---
GPR32	2854	broad.mit.edu	37	19	51274914	51274915	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr19:51274914_51274915insC	ENST00000270590.4	+	1	1194_1195	c.1057_1058insC	c.(1057-1059)gccfs	p.A353fs		NM_001506.1	NP_001497.1	O75388	GPR32_HUMAN	G protein-coupled receptor 32	353					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			breast(4)|endometrium(4)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	29		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		CCGTGGCAACGCCCCCCGGGAA	0.525																																					Esophageal Squamous(113;152 1581 5732 15840 44398)	ENST00000270590.4																			0				breast(4)|endometrium(4)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						c.(1057-1059)cccfs		G protein-coupled receptor 32																																				SO:0001589	frameshift_variant	2854					integral to plasma membrane	N-formyl peptide receptor activity	g.chr19:51274914_51274915insC	AF045764	CCDS12801.1	19q13.33	2012-08-20			ENSG00000142511	ENSG00000142511		"""GPCR / Class A : Resolvin receptors"""	4487	protein-coding gene	gene with protein product	"""resolvin D1 receptor"""	603195				9653656	Standard	NM_001506		Approved	RVDR1	uc010ycf.3	O75388		ENST00000270590.4:c.1063dupC	19.37:g.51274920_51274920dupC	ENSP00000270590:p.Ala353fs		Somatic					p.P353fs	NM_001506.1	NP_001497.1	WXS	Illumina GAIIx	Phase_I	O75388	GPR32_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)	1	1194_1195	+		all_neural(266;0.131)	353					Q502U7|Q6NWS5	Frame_Shift_Ins	INS	ENST00000270590.4	37	c.1057_1058insC	CCDS12801.1																																																																																				0.525	GPR32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465016.1			8	316						8	316	---	---	---	---
KLK1	3816	broad.mit.edu	37	19	51326962	51326963	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr19:51326962_51326963insC	ENST00000301420.2	-	1	77_78	c.42_43insG	c.(40-45)gggactfs	p.T15fs	KLK1_ENST00000448701.2_5'UTR	NM_002257.2	NP_002248.1	P06870	KLK1_HUMAN	kallikrein 1	15						extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)			breast(1)|large_intestine(4)|lung(7)|urinary_tract(1)	13		all_neural(266;0.0199)		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00399)	Aprotinin(DB06692)	GTCTCACCAGTCCCCCCCAGGG	0.653																																						ENST00000301420.2																			0				breast(1)|large_intestine(4)|lung(7)|urinary_tract(1)	13						c.(40-45)ggctggfs		kallikrein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)																																			SO:0001589	frameshift_variant	3816				proteolysis	nucleus	serine-type endopeptidase activity	g.chr19:51326962_51326963insC	L10038	CCDS12804.1	19q13.3	2008-02-05	2006-10-27			ENSG00000167748	3.4.21.35	"""Kallikreins"""	6357	protein-coding gene	gene with protein product		147910	"""kallikrein 1, renal/pancreas/salivary"""			1684954, 16800724, 16800723	Standard	NM_002257		Approved	Klk6	uc002ptk.1	P06870		ENST00000301420.2:c.43dupG	19.37:g.51326969_51326969dupC	ENSP00000301420:p.Thr15fs		Somatic				KLK1_ENST00000448701.2_5'UTR	p.W15fs	NM_002257.2	NP_002248.1	WXS	Illumina GAIIx	Phase_I	P06870	KLK1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00399)	1	77_78	-		all_neural(266;0.0199)	15					Q66US9|Q86U61|Q8TCV8|Q9BS53|Q9NQU4|Q9UD19|Q9UMJ1	Frame_Shift_Ins	INS	ENST00000301420.2	37	c.42_43insG	CCDS12804.1																																																																																				0.653	KLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464135.2	NM_002257		12	225						12	225	---	---	---	---
ZNF175	7728	broad.mit.edu	37	19	52090436	52090437	+	Frame_Shift_Ins	INS	-	-	G	rs138396190		TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr19:52090436_52090437insG	ENST00000262259.2	+	5	1210_1211	c.852_853insG	c.(853-855)gggfs	p.G285fs	ZNF175_ENST00000436511.2_Intron	NM_007147.2	NP_009078.1	Q9Y473	ZN175_HUMAN	zinc finger protein 175	285					defense response to virus (GO:0051607)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000426)|OV - Ovarian serous cystadenocarcinoma(262;0.0257)		GTTCTGAATGTGGGGGGAGCTT	0.441																																						ENST00000262259.2																			0				NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24						c.(850-855)tgggggfs		zinc finger protein 175																																				SO:0001589	frameshift_variant	7728				response to virus	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:52090436_52090437insG	D50419	CCDS12837.1	19q13.4	2013-01-08			ENSG00000105497	ENSG00000105497		"""Zinc fingers, C2H2-type"", ""-"""	12964	protein-coding gene	gene with protein product		601139				8838321	Standard	NM_007147		Approved	OTK18	uc002pxb.3	Q9Y473	OTTHUMG00000167771	ENST00000262259.2:c.858dupG	19.37:g.52090442_52090442dupG	ENSP00000262259:p.Gly285fs		Somatic				ZNF175_ENST00000436511.2_Intron	p.WG284fs	NM_007147.2	NP_009078.1	WXS	Illumina GAIIx	Phase_I	Q9Y473	ZN175_HUMAN		GBM - Glioblastoma multiforme(134;0.000426)|OV - Ovarian serous cystadenocarcinoma(262;0.0257)	5	1210_1211	+		all_neural(266;0.0299)	284					A8K9H2	Frame_Shift_Ins	INS	ENST00000262259.2	37	c.852_853insG	CCDS12837.1																																																																																				0.441	ZNF175-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396205.1	NM_007147		8	413						8	413	---	---	---	---
CNOT3	4849	broad.mit.edu	37	19	54649666	54649667	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr19:54649666_54649667insC	ENST00000406403.1	+	8	2327_2328	c.724_725insC	c.(724-726)tccfs	p.S242fs	CNOT3_ENST00000221232.5_Frame_Shift_Ins_p.S242fs|CNOT3_ENST00000358389.3_Frame_Shift_Ins_p.S61fs			O75175	CNOT3_HUMAN	CCR4-NOT transcription complex, subunit 3	242					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|nucleus (GO:0005634)				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GGTCGCCACCTCCCCTCCCAGC	0.644																																						ENST00000406403.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28						c.(724-726)cccfs		CCR4-NOT transcription complex, subunit 3																																				SO:0001589	frameshift_variant	4849				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding	g.chr19:54649666_54649667insC	AF180474	CCDS12880.1	19q13.4	2011-02-14			ENSG00000088038	ENSG00000088038			7879	protein-coding gene	gene with protein product	"""NOT3 (negative regulator of transcription 3, yeast) homolog"""	604910		NOT3		10637334, 9734811	Standard	NM_014516		Approved	NOT3H, KIAA0691, LENG2	uc002qdj.2	O75175	OTTHUMG00000066468	ENST00000406403.1:c.728dupC	19.37:g.54649670_54649670dupC	ENSP00000383954:p.Ser242fs		Somatic				CNOT3_ENST00000358389.3_Frame_Shift_Ins_p.P61fs|CNOT3_ENST00000221232.5_Frame_Shift_Ins_p.P242fs	p.P242fs			WXS	Illumina GAIIx	Phase_I	O75175	CNOT3_HUMAN			8	2327_2328	+	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		242					Q9NZN7|Q9UF76	Frame_Shift_Ins	INS	ENST00000406403.1	37	c.724_725insC	CCDS12880.1																																																																																				0.644	CNOT3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142130.3	NM_014516		8	113						8	113	---	---	---	---
NRSN2	80023	broad.mit.edu	37	20	333922	333923	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr20:333922_333923insC	ENST00000382291.3	+	4	498_499	c.258_259insC	c.(259-261)cccfs	p.P87fs	NRSN2_ENST00000492242.1_3'UTR|NRSN2_ENST00000382285.2_Frame_Shift_Ins_p.P87fs|NRSN2_ENST00000608736.1_Intron	NM_024958.2	NP_079234.1	Q9GZP1	NRSN2_HUMAN	neurensin 2	87						integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|transport vesicle (GO:0030133)				endometrium(1)|large_intestine(2)|lung(4)|urinary_tract(1)	8		all_cancers(10;0.0834)				GCTATGCAGTGCCCCCCAAGCT	0.644																																						ENST00000382291.3																			0				endometrium(1)|large_intestine(2)|lung(4)|urinary_tract(1)	8						c.(256-261)gtccccfs		neurensin 2																																				SO:0001589	frameshift_variant	80023					integral to membrane|plasma membrane|transport vesicle		g.chr20:333922_333923insC	AL136915	CCDS12996.1	20p13	2008-02-04	2006-07-04	2006-07-04	ENSG00000125841	ENSG00000125841			16229	protein-coding gene	gene with protein product		610666	"""chromosome 20 open reading frame 98"""	C20orf98		16527258	Standard	NM_024958		Approved	dJ1103G7.6	uc002wdi.4	Q9GZP1	OTTHUMG00000031628	ENST00000382291.3:c.264dupC	20.37:g.333928_333928dupC	ENSP00000371728:p.Pro87fs		Somatic				NRSN2_ENST00000492242.1_3'UTR|NRSN2_ENST00000382285.2_Frame_Shift_Ins_p.VP86fs	p.VP86fs	NM_024958.2	NP_079234.1	WXS	Illumina GAIIx	Phase_I	Q9GZP1	NRSN2_HUMAN			4	498_499	+		all_cancers(10;0.0834)	86					A8K3B2|Q6FII5|Q9NUD3	Frame_Shift_Ins	INS	ENST00000382291.3	37	c.258_259insC	CCDS12996.1																																																																																				0.644	NRSN2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077446.1	NM_024958		9	321						9	321	---	---	---	---
NSFL1C	55968	broad.mit.edu	37	20	1426464	1426465	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr20:1426464_1426465insG	ENST00000216879.4	-	8	1663_1664	c.796_797insC	c.(796-798)cagfs	p.Q266fs	NSFL1C_ENST00000350991.4_Frame_Shift_Ins_p.Q268fs|NSFL1C_ENST00000461211.1_5'UTR|NSFL1C_ENST00000381658.4_Frame_Shift_Ins_p.Q155fs|NSFL1C_ENST00000353088.2_Frame_Shift_Ins_p.Q235fs|NSFL1C_ENST00000476071.1_Frame_Shift_Ins_p.Q268fs	NM_016143.4	NP_057227.2	Q9UNZ2	NSF1C_HUMAN	NSFL1 (p97) cofactor (p47)	266						chromosome (GO:0005694)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)			breast(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	16						ACTCAACACCTGGGGGGCAGTG	0.51																																						ENST00000216879.4																			0				breast(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	16						c.(796-798)ggtfs		NSFL1 (p97) cofactor (p47)																																				SO:0001589	frameshift_variant	55968					chromosome|Golgi stack|nucleus	lipid binding|protein binding	g.chr20:1426464_1426465insG	AF112211	CCDS13015.1, CCDS13016.1, CCDS56175.1	20p13	2011-06-28			ENSG00000088833	ENSG00000088833		"""UBX domain containing"""	15912	protein-coding gene	gene with protein product	"""SHP1 homolog (S. cerevisiae)"", ""UBX domain protein 2C"""	606610				11042152	Standard	NM_016143		Approved	dJ776F14.1, p47, UBXD10, UBX1, UBXN2C	uc002wfc.3	Q9UNZ2	OTTHUMG00000031665	ENST00000216879.4:c.797dupC	20.37:g.1426470_1426470dupG	ENSP00000216879:p.Gln266fs		Somatic				NSFL1C_ENST00000476071.1_Frame_Shift_Ins_p.G268fs|NSFL1C_ENST00000461211.1_5'UTR|NSFL1C_ENST00000353088.2_Frame_Shift_Ins_p.G235fs|NSFL1C_ENST00000350991.4_Frame_Shift_Ins_p.G268fs|NSFL1C_ENST00000381658.4_Frame_Shift_Ins_p.G155fs	p.G266fs	NM_016143.4	NP_057227.2	WXS	Illumina GAIIx	Phase_I	Q9UNZ2	NSF1C_HUMAN			8	1663_1664	-			266					A2A2L1|B2RD74|Q5JXA4|Q5JXA5|Q7Z533|Q9H102|Q9NVL9|Q9UI06	Frame_Shift_Ins	INS	ENST00000216879.4	37	c.796_797insC	CCDS13015.1																																																																																				0.510	NSFL1C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077525.2	NM_016143		7	588						7	588	---	---	---	---
CST4	1472	broad.mit.edu	37	20	23667825	23667826	+	Frame_Shift_Ins	INS	-	-	C	rs140501583		TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr20:23667825_23667826insC	ENST00000217423.3	-	2	311_312	c.241_242insG	c.(241-243)gtgfs	p.V81fs		NM_001899.2	NP_001890.1	P01036	CYTS_HUMAN	cystatin S	81					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of proteolysis (GO:0045861)|retina homeostasis (GO:0001895)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cysteine-type endopeptidase inhibitor activity (GO:0004869)			breast(1)|endometrium(1)|large_intestine(2)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	16	Lung NSC(19;0.0789)|Colorectal(13;0.0993)|all_lung(19;0.169)					GAAGTAATTCACCCCCCCAAAG	0.554																																						ENST00000217423.3																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	16						c.(241-243)gaafs		cystatin S																																				SO:0001589	frameshift_variant	1472					extracellular region	cysteine-type endopeptidase inhibitor activity	g.chr20:23667825_23667826insC		CCDS13159.1	20p11.2	2008-04-15			ENSG00000101441	ENSG00000101441			2476	protein-coding gene	gene with protein product		123857				1801729	Standard	NM_001899		Approved		uc002wto.1	P01036	OTTHUMG00000032083	ENST00000217423.3:c.242dupG	20.37:g.23667832_23667832dupC	ENSP00000217423:p.Val81fs		Somatic					p.E81fs	NM_001899.2	NP_001890.1	WXS	Illumina GAIIx	Phase_I	P01036	CYTS_HUMAN			2	311_312	-	Lung NSC(19;0.0789)|Colorectal(13;0.0993)|all_lung(19;0.169)		81					Q9UBI5|Q9UCS9	Frame_Shift_Ins	INS	ENST00000217423.3	37	c.241_242insG	CCDS13159.1																																																																																				0.554	CST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078349.2	NM_001899		15	255						15	255	---	---	---	---
CST1	1469	broad.mit.edu	37	20	23729753	23729754	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr20:23729753_23729754insC	ENST00000304749.2	-	2	311_312	c.241_242insG	c.(241-243)gtgfs	p.V81fs	CST1_ENST00000398402.1_Frame_Shift_Ins_p.V81fs	NM_001898.2	NP_001889.2	P01037	CYTN_HUMAN	cystatin SN	81					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|negative regulation of endopeptidase activity (GO:0010951)	extracellular space (GO:0005615)	cysteine-type endopeptidase inhibitor activity (GO:0004869)			kidney(1)|large_intestine(1)|lung(8)|ovary(1)|stomach(1)|urinary_tract(1)	13	Lung NSC(19;0.0676)|all_lung(19;0.148)					GAAGTAATTCACCCCCCCAACG	0.554																																						ENST00000304749.2																			0				kidney(1)|large_intestine(1)|lung(8)|ovary(1)|stomach(1)|urinary_tract(1)	13						c.(241-243)gaafs		cystatin SN																																				SO:0001589	frameshift_variant	1469					extracellular region	cysteine-type endopeptidase inhibitor activity	g.chr20:23729753_23729754insC	M19169	CCDS13160.1	20p11.2	2008-04-15			ENSG00000170373	ENSG00000170373			2473	protein-coding gene	gene with protein product		123855					Standard	NM_001898		Approved		uc002wtp.3	P01037	OTTHUMG00000032085	ENST00000304749.2:c.242dupG	20.37:g.23729760_23729760dupC	ENSP00000305731:p.Val81fs		Somatic				CST1_ENST00000398402.1_Frame_Shift_Ins_p.E81fs	p.E81fs	NM_001898.2	NP_001889.2	WXS	Illumina GAIIx	Phase_I	P01037	CYTN_HUMAN			2	311_312	-	Lung NSC(19;0.0676)|all_lung(19;0.148)		81					Q96LE6|Q9UCQ6	Frame_Shift_Ins	INS	ENST00000304749.2	37	c.241_242insG	CCDS13160.1																																																																																				0.554	CST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078351.2	NM_001898		14	261						14	261	---	---	---	---
TM9SF4	9777	broad.mit.edu	37	20	30737490	30737491	+	Frame_Shift_Ins	INS	-	-	C	rs199845790		TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr20:30737490_30737491insC	ENST00000398022.2	+	10	1243_1244	c.1008_1009insC	c.(1009-1011)cccfs	p.P337fs	TM9SF4_ENST00000217315.5_Frame_Shift_Ins_p.P320fs	NM_014742.3	NP_055557.2	Q92544	TM9S4_HUMAN	transmembrane 9 superfamily protein member 4	337						integral component of membrane (GO:0016021)				central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			ACGTCTTCAGGCCCCCCCAGTA	0.604																																						ENST00000217315.5																			0				central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(955-960)agccccfs		transmembrane 9 superfamily protein member 4																																				SO:0001589	frameshift_variant	9777					integral to membrane		g.chr20:30737490_30737491insC	BC021107	CCDS13196.2	20q11.21	2004-04-19			ENSG00000101337	ENSG00000101337			30797	protein-coding gene	gene with protein product						9039502	Standard	NM_014742		Approved	KIAA0255, dJ836N17.2	uc002wxj.2	Q92544	OTTHUMG00000032206	ENST00000398022.2:c.1015dupC	20.37:g.30737497_30737497dupC	ENSP00000381104:p.Pro337fs		Somatic				TM9SF4_ENST00000398022.2_Frame_Shift_Ins_p.SP336fs	p.SP319fs			WXS	Illumina GAIIx	Phase_I	Q92544	TM9S4_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		10	1297_1298	+			336					B0QYT7|Q9NUA3	Frame_Shift_Ins	INS	ENST00000398022.2	37	c.957_958insC	CCDS13196.2																																																																																				0.604	TM9SF4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323568.1	NM_014742		7	111						7	111	---	---	---	---
CNBD2	140894	broad.mit.edu	37	20	34618503	34618504	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr20:34618503_34618504insC	ENST00000373973.3	+	12	1837_1838	c.1664_1665insC	c.(1663-1668)ctccccfs	p.LP555fs	CNBD2_ENST00000538900.1_3'UTR|CNBD2_ENST00000349339.1_Frame_Shift_Ins_p.LP551fs			Q96M20	CNBD2_HUMAN	cyclic nucleotide binding domain containing 2	555																	CAGAAATACCTCCCCCCATTGA	0.455																																						ENST00000373973.3																			0											c.(1663-1665)cccfs		cyclic nucleotide binding domain containing 2																																				SO:0001589	frameshift_variant	140894							g.chr20:34618503_34618504insC	AL359828	CCDS13270.1, CCDS56189.1	20q11.23	2012-11-15	2012-11-15	2012-11-15	ENSG00000149646	ENSG00000149646			16145	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 152"", ""cyclic nucleotide (cNMP) binding domain containing 1"""	C20orf152, CNMPD1		11780052	Standard	NM_080834		Approved	dJ954P9.1	uc002xer.1	Q96M20	OTTHUMG00000032371	ENST00000373973.3:c.1670dupC	20.37:g.34618509_34618509dupC	ENSP00000363084:p.Leu555fs		Somatic				CNBD2_ENST00000538900.1_3'UTR|CNBD2_ENST00000349339.1_Frame_Shift_Ins_p.P551fs	p.P555fs			WXS	Illumina GAIIx	Phase_I					12	1837_1838	+								Q14C79|Q5JWY7|Q5T3S1|Q9BR36|Q9BWY5	Frame_Shift_Ins	INS	ENST00000373973.3	37	c.1664_1665insC																																																																																					0.455	CNBD2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000078960.2	NM_080834		19	908						19	908	---	---	---	---
RALGAPB	57148	broad.mit.edu	37	20	37146232	37146233	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr20:37146232_37146233insC	ENST00000262879.6	+	8	1419_1420	c.1135_1136insC	c.(1135-1137)accfs	p.T379fs	RALGAPB_ENST00000537204.1_Frame_Shift_Ins_p.T379fs|RALGAPB_ENST00000397038.1_Frame_Shift_Ins_p.T157fs|RALGAPB_ENST00000397040.1_Frame_Shift_Ins_p.T379fs|RALGAPB_ENST00000397042.3_Frame_Shift_Ins_p.T379fs|MIR548O2_ENST00000583129.1_RNA			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	379					activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)|Ral protein signal transduction (GO:0032484)|regulation of exocyst localization (GO:0060178)		protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)	p.H382fs*2(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						TGTCAGTACCACCCCCCCACAT	0.446																																						ENST00000262879.6																			1	Insertion - Frameshift(1)	p.H382fs*2(1)	lung(1)	breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						c.(1135-1137)cccfs		Ral GTPase activating protein, beta subunit (non-catalytic)																																				SO:0001589	frameshift_variant	57148				activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity	g.chr20:37146232_37146233insC	AB033045	CCDS13305.1, CCDS63272.1	20q11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000170471	ENSG00000170471			29221	protein-coding gene	gene with protein product			"""KIAA1219"""	KIAA1219		19520869	Standard	XM_005260462		Approved	DKFZp781M2411, RalGAPbeta	uc002xiw.3	Q86X10	OTTHUMG00000140270	ENST00000262879.6:c.1142dupC	20.37:g.37146239_37146239dupC	ENSP00000262879:p.Thr379fs		Somatic				RALGAPB_ENST00000397040.1_Frame_Shift_Ins_p.P379fs|RALGAPB_ENST00000537204.1_Frame_Shift_Ins_p.P379fs|RALGAPB_ENST00000397042.3_Frame_Shift_Ins_p.P379fs|RALGAPB_ENST00000397038.1_Frame_Shift_Ins_p.P157fs	p.P379fs			WXS	Illumina GAIIx	Phase_I	Q86X10	RLGPB_HUMAN			8	1419_1420	+			379					A2A2E8|A2A2E9|Q5TG31|Q8N3D1|Q8WWC0|Q9H3X8|Q9UJR1|Q9ULK1|Q9Y3G9	Frame_Shift_Ins	INS	ENST00000262879.6	37	c.1135_1136insC	CCDS13305.1																																																																																				0.446	RALGAPB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079191.1	NM_020336		11	147						11	147	---	---	---	---
SLC13A3	64849	broad.mit.edu	37	20	45194969	45194970	+	Frame_Shift_Ins	INS	-	-	G	rs149123701	byFrequency	TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr20:45194969_45194970insG	ENST00000279027.4	-	11	1410_1411	c.1392_1393insC	c.(1390-1395)cccgccfs	p.A465fs	SLC13A3_ENST00000396360.1_Frame_Shift_Ins_p.A383fs|SLC13A3_ENST00000290317.5_Frame_Shift_Ins_p.A418fs|SLC13A3_ENST00000495082.1_Frame_Shift_Ins_p.A418fs|SLC13A3_ENST00000435032.1_Frame_Shift_Ins_p.A50fs|SLC13A3_ENST00000472148.1_Frame_Shift_Ins_p.A383fs|SLC13A3_ENST00000413164.2_Frame_Shift_Ins_p.A415fs	NM_001193342.1|NM_022829.5	NP_001180271.1|NP_073740.2	Q8WWT9	S13A3_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3	465					transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	high-affinity sodium:dicarboxylate symporter activity (GO:0015362)	p.P464P(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(115;0.0122)			Succinic acid(DB00139)	ACAGCCAGGGCGGGGGGCACAT	0.604																																						ENST00000279027.4																			1	Substitution - coding silent(1)	p.P464P(1)	lung(1)	breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						c.(1390-1395)ccccctfs		solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3	Succinic acid(DB00139)																																			SO:0001589	frameshift_variant	64849					integral to membrane|plasma membrane	high affinity sodium:dicarboxylate symporter activity	g.chr20:45194969_45194970insG	AF154121	CCDS13400.1, CCDS42886.1, CCDS54469.1, CCDS54470.1	20q13.12	2013-05-22			ENSG00000158296	ENSG00000158296		"""Solute carriers"""	14430	protein-coding gene	gene with protein product		606411				10794676, 10992006	Standard	NM_001011554		Approved	NADC3, SDCT2	uc002xsf.2	Q8WWT9	OTTHUMG00000033042	ENST00000279027.4:c.1393dupC	20.37:g.45194975_45194975dupG	ENSP00000279027:p.Ala465fs		Somatic				SLC13A3_ENST00000413164.2_Frame_Shift_Ins_p.PP414fs|SLC13A3_ENST00000290317.5_Frame_Shift_Ins_p.PP417fs|SLC13A3_ENST00000435032.1_Frame_Shift_Ins_p.PP49fs|SLC13A3_ENST00000472148.1_Frame_Shift_Ins_p.PP382fs|SLC13A3_ENST00000396360.1_Frame_Shift_Ins_p.PP382fs|SLC13A3_ENST00000495082.1_Frame_Shift_Ins_p.PP417fs	p.PP464fs	NM_001193342.1|NM_022829.5	NP_001180271.1|NP_073740.2	WXS	Illumina GAIIx	Phase_I	Q8WWT9	S13A3_HUMAN			11	1410_1411	-		Myeloproliferative disorder(115;0.0122)	464					B4DIR8|E1P5U4|F6WI18|Q5JYC9|Q5JYD0|Q5JYD1|Q5TCQ2|Q8IVB1|Q8N8K4|Q96MM5|Q9BR25|Q9H1G1|Q9H3W4|Q9NQN5|Q9NS04	Frame_Shift_Ins	INS	ENST00000279027.4	37	c.1392_1393insC	CCDS13400.1																																																																																				0.604	SLC13A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080329.2			7	456						7	456	---	---	---	---
KCNB1	3745	broad.mit.edu	37	20	47989771	47989772	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr20:47989771_47989772insG	ENST00000371741.4	-	2	2491_2492	c.2325_2326insC	c.(2323-2328)cccaaafs	p.K776fs		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	776					energy reserve metabolic process (GO:0006112)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|dendrite membrane (GO:0032590)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Dalfampridine(DB06637)	GGGAGGCTTTTGGGGGGGCTGG	0.545																																						ENST00000371741.4																			0				central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53						c.(2323-2328)ccaaagfs		potassium voltage-gated channel, Shab-related subfamily, member 1																																				SO:0001589	frameshift_variant	3745				energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity	g.chr20:47989771_47989772insG	AF026005	CCDS13418.1	20q13.2	2012-07-05			ENSG00000158445	ENSG00000158445		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6231	protein-coding gene	gene with protein product		600397				7774931, 16382104	Standard	NM_004975		Approved	Kv2.1	uc002xur.1	Q14721	OTTHUMG00000033051	ENST00000371741.4:c.2326dupC	20.37:g.47989778_47989778dupG	ENSP00000360806:p.Lys776fs		Somatic					p.PK775fs	NM_004975.2	NP_004966.1	WXS	Illumina GAIIx	Phase_I	Q14721	KCNB1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		2	2491_2492	-			775					Q14193	Frame_Shift_Ins	INS	ENST00000371741.4	37	c.2325_2326insC	CCDS13418.1																																																																																				0.545	KCNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080374.3	NM_004975		28	708						28	708	---	---	---	---
KCNB1	3745	broad.mit.edu	37	20	47989890	47989891	+	Frame_Shift_Ins	INS	-	-	G	rs151175979		TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr20:47989890_47989891insG	ENST00000371741.4	-	2	2372_2373	c.2206_2207insC	c.(2206-2208)cggfs	p.R736fs		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	736					energy reserve metabolic process (GO:0006112)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|dendrite membrane (GO:0032590)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Dalfampridine(DB06637)	CTCAGGAGACCGGGGGGGTGTC	0.559																																						ENST00000371741.4																			0				central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53						c.(2206-2208)gtcfs		potassium voltage-gated channel, Shab-related subfamily, member 1																																				SO:0001589	frameshift_variant	3745				energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity	g.chr20:47989890_47989891insG	AF026005	CCDS13418.1	20q13.2	2012-07-05			ENSG00000158445	ENSG00000158445		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6231	protein-coding gene	gene with protein product		600397				7774931, 16382104	Standard	NM_004975		Approved	Kv2.1	uc002xur.1	Q14721	OTTHUMG00000033051	ENST00000371741.4:c.2207dupC	20.37:g.47989897_47989897dupG	ENSP00000360806:p.Arg736fs		Somatic					p.V736fs	NM_004975.2	NP_004966.1	WXS	Illumina GAIIx	Phase_I	Q14721	KCNB1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		2	2372_2373	-			736					Q14193	Frame_Shift_Ins	INS	ENST00000371741.4	37	c.2206_2207insC	CCDS13418.1																																																																																				0.559	KCNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080374.3	NM_004975		11	198						11	198	---	---	---	---
SALL4	57167	broad.mit.edu	37	20	50400982	50400983	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr20:50400982_50400983insC	ENST00000217086.4	-	4	3094_3095	c.2983_2984insG	c.(2983-2985)gttfs	p.V995fs	SALL4_ENST00000395997.3_Frame_Shift_Ins_p.V558fs|SALL4_ENST00000371539.3_Frame_Shift_Ins_p.V218fs	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	995					embryonic limb morphogenesis (GO:0030326)|inner cell mass cell proliferation (GO:0001833)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|ventricular septum development (GO:0003281)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GAGGGTAGGAACCCCCCCACTC	0.559																																						ENST00000217086.4																			0				endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(2983-2985)tccfs		spalt-like transcription factor 4																																				SO:0001589	frameshift_variant	57167				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:50400982_50400983insC	AK001666	CCDS13438.1	20q13.2	2014-09-17	2013-10-17		ENSG00000101115	ENSG00000101115		"""Zinc fingers, C2H2-type"""	15924	protein-coding gene	gene with protein product		607343	"""sal (Drosophila)-like 4"", ""sal-like 4 (Drosophila)"""				Standard	NM_020436		Approved	dJ1112F19.1, ZNF797	uc002xwh.4	Q9UJQ4	OTTHUMG00000032752	ENST00000217086.4:c.2984dupG	20.37:g.50400989_50400989dupC	ENSP00000217086:p.Val995fs		Somatic				SALL4_ENST00000371539.3_Frame_Shift_Ins_p.S218fs|SALL4_ENST00000395997.3_Frame_Shift_Ins_p.S558fs	p.S995fs	NM_020436.3	NP_065169.1	WXS	Illumina GAIIx	Phase_I	Q9UJQ4	SALL4_HUMAN			4	3094_3095	-			995					A2A2D8|Q540H3|Q6Y8G6	Frame_Shift_Ins	INS	ENST00000217086.4	37	c.2983_2984insG	CCDS13438.1																																																																																				0.559	SALL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079738.3			9	112						9	112	---	---	---	---
ZFP64	55734	broad.mit.edu	37	20	50769075	50769076	+	Frame_Shift_Ins	INS	-	-	G	rs535504707		TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr20:50769075_50769076insG	ENST00000216923.4	-	6	2004_2005	c.1655_1656insC	c.(1654-1656)cctfs	p.P552fs	ZFP64_ENST00000361387.2_Intron|ZFP64_ENST00000477786.1_Intron|ZFP64_ENST00000371515.4_Frame_Shift_Ins_p.P550fs|ZFP64_ENST00000346617.4_Frame_Shift_Ins_p.P498fs|ZFP64_ENST00000371518.2_Intron	NM_018197.2|NM_199426.1	NP_060667.2|NP_955458.1	Q9NPA5	ZF64A_HUMAN	ZFP64 zinc finger protein	552					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						GCGAGGACTGAGGGGGGGCGAT	0.673																																						ENST00000216923.4																			0				breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(1654-1656)ccafs		ZFP64 zinc finger protein			,,,	11,4249		0,11,2119					,,,	-3.3	0.0			34	3,8249		0,3,4123	no	intron,frameshift,frameshift,frameshift	ZFP64	NM_199427.2,NM_199426.1,NM_022088.4,NM_018197.2	,,,	0,14,6242	A1A1,A1R,RR		0.0364,0.2582,0.1119	,,,	,,,		14,12498				SO:0001589	frameshift_variant	55734				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:50769075_50769076insG	AK001596	CCDS13439.1, CCDS13440.1, CCDS13441.1, CCDS13442.1	20q13.11-q13.13	2013-01-08	2012-11-27		ENSG00000020256	ENSG00000020256		"""Zinc fingers, C2H2-type"""	15940	protein-coding gene	gene with protein product			"""zinc finger protein 338"", ""zinc finger protein 64 homolog (mouse)"", ""zinc finger protein 64"""	ZNF338		9034307	Standard	NM_199427		Approved	FLJ10734, dJ831D17.1, FLJ12628, dJ548G19.1	uc002xwl.3	Q9NPA5	OTTHUMG00000032756	ENST00000216923.4:c.1656dupC	20.37:g.50769082_50769082dupG	ENSP00000216923:p.Pro552fs		Somatic				ZFP64_ENST00000361387.2_Intron|ZFP64_ENST00000346617.4_Frame_Shift_Ins_p.P498fs|ZFP64_ENST00000371515.4_Frame_Shift_Ins_p.P550fs|ZFP64_ENST00000477786.1_Intron|ZFP64_ENST00000371518.2_Intron	p.P552fs	NM_018197.2|NM_199426.1	NP_060667.2|NP_955458.1	WXS	Illumina GAIIx	Phase_I	Q9NPA5	ZF64A_HUMAN			6	2004_2005	-			552					Q9NTS7|Q9NVH4	Frame_Shift_Ins	INS	ENST00000216923.4	37	c.1655_1656insC	CCDS13440.1																																																																																				0.673	ZFP64-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079744.1	NM_018197		13	91						13	91	---	---	---	---
BAGE2	85319	broad.mit.edu	37	21	11059172	11059175	+	RNA	DEL	CTAT	CTAT	-	rs56885467|rs200729113		TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr21:11059172_11059175delCTAT	ENST00000470054.1	-	0	324							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TGGGAAATGACTATCTAACATAAA	0.373																																						ENST00000470054.1																			0													B melanoma antigen family, member 2																																						85319							g.chr21:11059172_11059175delCTAT	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11059172_11059175delCTAT			Somatic								WXS	Illumina GAIIx	Phase_I			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	324	-								A8K925|Q08ER0	RNA	DEL	ENST00000470054.1	37																																																																																						0.373	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		5	1						5	1	---	---	---	---
KLHL22	84861	broad.mit.edu	37	22	20819244	20819245	+	Frame_Shift_Ins	INS	-	-	G	rs571498391		TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr22:20819244_20819245insG	ENST00000328879.4	-	4	1168_1169	c.1012_1013insC	c.(1012-1014)cgcfs	p.R338fs	KLHL22_ENST00000440659.2_Frame_Shift_Ins_p.R195fs	NM_032775.3	NP_116164.2	Q53GT1	KLH22_HUMAN	kelch-like family member 22	338					cell division (GO:0051301)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle assembly checkpoint (GO:0007094)|protein monoubiquitination (GO:0006513)	centrosome (GO:0005813)|Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|mitotic spindle (GO:0072686)|polar microtubule (GO:0005827)				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	20	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			GTTGGACATGCGGGGGGCCAGG	0.574																																						ENST00000328879.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	20						c.(1012-1014)catfs		kelch-like family member 22																																				SO:0001589	frameshift_variant	84861				cell division	Cul3-RING ubiquitin ligase complex		g.chr22:20819244_20819245insG		CCDS13780.1	22q11.21	2013-01-30	2013-01-30		ENSG00000099910	ENSG00000099910		"""Kelch-like"", ""BTB/POZ domain containing"""	25888	protein-coding gene	gene with protein product			"""kelch-like 22 (Drosophila)"""			12477932	Standard	NM_032775		Approved	FLJ14360, KELCHL	uc002zsl.2	Q53GT1	OTTHUMG00000150778	ENST00000328879.4:c.1013dupC	22.37:g.20819250_20819250dupG	ENSP00000331682:p.Arg338fs		Somatic				KLHL22_ENST00000440659.2_Frame_Shift_Ins_p.H195fs	p.H338fs	NM_032775.3	NP_116164.2	WXS	Illumina GAIIx	Phase_I	Q53GT1	KLH22_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)		4	1168_1169	-	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	338					A8K3Q4|A8MTV3|B7Z2G1|D3DX30|Q96B68|Q96KC6	Frame_Shift_Ins	INS	ENST00000328879.4	37	c.1012_1013insC	CCDS13780.1																																																																																				0.574	KLHL22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320045.2	NM_032775		7	198						7	198	---	---	---	---
THOC5	8563	broad.mit.edu	37	22	29925230	29925231	+	Splice_Site	INS	-	-	G			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr22:29925230_29925231insG	ENST00000490103.1	-	9	970		c.e9-2		THOC5_ENST00000397872.1_Splice_Site|THOC5_ENST00000397873.2_Splice_Site|CTA-256D12.11_ENST00000411969.1_RNA|THOC5_ENST00000397871.1_Splice_Site	NM_003678.4	NP_003669.4	Q13769	THOC5_HUMAN	THO complex 5						blastocyst development (GO:0001824)|cell morphogenesis (GO:0000902)|monocyte differentiation (GO:0030224)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|negative regulation of DNA damage checkpoint (GO:2000002)|negative regulation of macrophage differentiation (GO:0045650)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|primitive hemopoiesis (GO:0060215)|regulation of mRNA export from nucleus (GO:0010793)|regulation of stem cell division (GO:2000035)|RNA splicing (GO:0008380)|stem cell division (GO:0017145)|viral mRNA export from host cell nucleus (GO:0046784)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	mRNA binding (GO:0003729)			NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						ACGTCTTATCTGGGGGGCAAGA	0.535																																						ENST00000490103.1																			0				NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.e9-2		THO complex 5			,,,	0,4264		0,0,2132					,,,	5.4	1.0			108	1,8253		0,1,4126	no	splice-3,splice-3,splice-3,splice-3	THOC5	NM_003678.4,NM_001002879.1,NM_001002878.1,NM_001002877.1	,,,	0,1,6258	A1A1,A1R,RR		0.0121,0.0,0.0080	,,,	,,,		1,12517				SO:0001630	splice_region_variant	8563				intronless viral mRNA export from host nucleus|monocyte differentiation|mRNA processing|primitive hemopoiesis|RNA splicing	cytoplasm|intermediate filament cytoskeleton|THO complex part of transcription export complex	protein binding|RNA binding	g.chr22:29925230_29925231insG	AB023200	CCDS13859.1	22q12	2013-02-11			ENSG00000100296	ENSG00000100296		"""THO complex subunits"""	19074	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 79"""	612733	"""chromosome 22 open reading frame 19"""	C22orf19		11979277, 8242058, 10231032, 19015024, 18373705	Standard	NM_003678		Approved	PK1.3, KIAA0983, Fmip, fSAP79	uc003afs.3	Q13769	OTTHUMG00000151291	ENST00000490103.1:c.848-2->C	22.37:g.29925236_29925236dupG			Somatic				THOC5_ENST00000397872.1_Splice_Site|THOC5_ENST00000397871.1_Splice_Site|THOC5_ENST00000397873.2_Splice_Site|CTA-256D12.11_ENST00000411969.1_RNA		NM_003678.4	NP_003669.4	WXS	Illumina GAIIx	Phase_I	Q13769	THOC5_HUMAN			9	970	-								O60839|Q9UPZ5	Splice_Site	INS	ENST00000490103.1	37		CCDS13859.1																																																																																				0.535	THOC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322097.1	NM_003678	Intron	16	997						16	997	---	---	---	---
TMPRSS6	164656	broad.mit.edu	37	22	37499435	37499436	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr22:37499435_37499436insG	ENST00000346753.3	-	2	165_166	c.49_50insC	c.(49-51)cagfs	p.Q17fs	TMPRSS6_ENST00000381792.2_Frame_Shift_Ins_p.Q8fs|TMPRSS6_ENST00000442782.2_Frame_Shift_Ins_p.Q17fs|TMPRSS6_ENST00000406725.1_Frame_Shift_Ins_p.Q8fs|TMPRSS6_ENST00000406856.1_Frame_Shift_Ins_p.Q8fs	NM_153609.2	NP_705837.1	Q8IU80	TMPS6_HUMAN	transmembrane protease, serine 6	17					angiogenesis (GO:0001525)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|intracellular signal transduction (GO:0035556)|iron ion homeostasis (GO:0055072)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)			breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						GCCAGCCACCTGGGGGGCCTCG	0.658																																						ENST00000381792.2																			0				breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						c.(22-24)ggtfs		transmembrane protease, serine 6																																				SO:0001589	frameshift_variant	164656				angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity	g.chr22:37499435_37499436insG	AY055383	CCDS13941.1, CCDS74856.1, CCDS74857.1	22q13.1	2010-04-13			ENSG00000187045	ENSG00000187045		"""Serine peptidases / Transmembrane"""	16517	protein-coding gene	gene with protein product		609862					Standard	NM_001289000		Approved	FLJ30744	uc003aqs.1	Q8IU80	OTTHUMG00000150541	ENST00000346753.3:c.50dupC	22.37:g.37499441_37499441dupG	ENSP00000334962:p.Gln17fs		Somatic				TMPRSS6_ENST00000406725.1_Frame_Shift_Ins_p.G8fs|TMPRSS6_ENST00000406856.1_Frame_Shift_Ins_p.G8fs|TMPRSS6_ENST00000442782.2_Frame_Shift_Ins_p.G17fs|TMPRSS6_ENST00000346753.3_Frame_Shift_Ins_p.G17fs	p.G8fs			WXS	Illumina GAIIx	Phase_I	Q8IU80	TMPS6_HUMAN			2	162_163	-			17					B0QYB4|B0QYB7|B0QYB8|Q5TI06|Q6ICC2|Q6UXD8|Q8IUE2|Q8IXV8	Frame_Shift_Ins	INS	ENST00000346753.3	37	c.22_23insC	CCDS13941.1																																																																																				0.658	TMPRSS6-003	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000318822.1	NM_153609		7	641						7	641	---	---	---	---
DDX17	10521	broad.mit.edu	37	22	38895454	38895455	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr22:38895454_38895455insC	ENST00000396821.3	-	3	587_588	c.488_489insG	c.(487-489)ggafs	p.G163fs	DDX17_ENST00000381633.3_Frame_Shift_Ins_p.G84fs|DDX17_ENST00000432525.1_5'UTR	NM_001098504.1|NM_006386.4	NP_001091974|NP_006377.2	Q92841	DDX17_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 17	163					ATP catabolic process (GO:0006200)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of skeletal muscle cell differentiation (GO:2001014)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA helicase activity (GO:0003724)|RNA-dependent ATPase activity (GO:0008186)|transcription coactivator activity (GO:0003713)	p.G163fs*20(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	25	Melanoma(58;0.0286)					GACAAACATCTCCCCCCCTCAC	0.381																																					Ovarian(55;1085 1454 6392 21425)	ENST00000396821.3																			1	Deletion - Frameshift(1)	p.G163fs*20(1)	lung(1)	breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	25						c.(487-489)ggafs		DEAD (Asp-Glu-Ala-Asp) box helicase 17																																				SO:0001589	frameshift_variant	10521				RNA processing	nucleus	ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity|RNA-dependent ATPase activity	g.chr22:38895454_38895455insC	U59321	CCDS33646.1, CCDS46706.1	22q13.1	2012-02-23	2012-02-23		ENSG00000100201	ENSG00000100201		"""DEAD-boxes"""	2740	protein-coding gene	gene with protein product		608469	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 17 (72kD)"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 17"""			8871553, 17226766	Standard	NM_006386		Approved	P72	uc003avy.4	Q92841	OTTHUMG00000151136	ENST00000396821.3:c.489dupG	22.37:g.38895461_38895461dupC	ENSP00000380033:p.Gly163fs		Somatic				DDX17_ENST00000432525.1_5'UTR|DDX17_ENST00000381633.3_Frame_Shift_Ins_p.G84fs	p.G163fs	NM_001098504.1|NM_006386.4	NP_001091974.1|NP_006377.2	WXS	Illumina GAIIx	Phase_I	Q92841	DDX17_HUMAN			3	587_588	-	Melanoma(58;0.0286)		84			Helicase ATP-binding.		B1AHM0|Q69YT1|Q6ICD6	Frame_Shift_Ins	INS	ENST00000396821.3	37	c.488_489insG	CCDS46706.1																																																																																				0.381	DDX17-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321476.2	NM_030881		9	185						9	185	---	---	---	---
SREBF2	6721	broad.mit.edu	37	22	42271636	42271637	+	Frame_Shift_Ins	INS	-	-	C	rs79727196		TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr22:42271636_42271637insC	ENST00000361204.4	+	7	1460_1461	c.1294_1295insC	c.(1294-1296)tccfs	p.S432fs		NM_004599.2	NP_004590.2	Q12772	SRBP2_HUMAN	sterol regulatory element binding transcription factor 2	432	Interaction with LMNA. {ECO:0000250}.				cellular lipid metabolic process (GO:0044255)|cellular response to laminar fluid shear stress (GO:0071499)|cholesterol metabolic process (GO:0008203)|lipid metabolic process (GO:0006629)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cholesterol homeostasis (GO:2000188)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|response to low-density lipoprotein particle (GO:0055098)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SREBP-SCAP-Insig complex (GO:0032937)	E-box binding (GO:0070888)|protein C-terminus binding (GO:0008022)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						CCTTCTGATGTCCCCCCCAGCC	0.52																																						ENST00000361204.4																			0				NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						c.(1294-1296)cccfs		sterol regulatory element binding transcription factor 2																																				SO:0001589	frameshift_variant	6721				cholesterol metabolic process	ER to Golgi transport vesicle membrane|Golgi membrane|nucleus|SREBP-SCAP-Insig complex	protein C-terminus binding	g.chr22:42271636_42271637insC	U02031	CCDS14023.1	22q13.2	2013-05-21			ENSG00000198911	ENSG00000198911		"""Basic helix-loop-helix proteins"""	11290	protein-coding gene	gene with protein product		600481				7903453	Standard	NM_004599		Approved	SREBP2, bHLHd2	uc003bbi.3	Q12772	OTTHUMG00000151261	ENST00000361204.4:c.1301dupC	22.37:g.42271643_42271643dupC	ENSP00000354476:p.Ser432fs		Somatic					p.P432fs	NM_004599.2	NP_004590.2	WXS	Illumina GAIIx	Phase_I	Q12772	SRBP2_HUMAN			7	1460_1461	+			432			Interaction with LMNA (By similarity).		Q05BD5|Q6GTH7|Q86V36|Q9UH04	Frame_Shift_Ins	INS	ENST00000361204.4	37	c.1294_1295insC	CCDS14023.1																																																																																				0.520	SREBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321956.1	NM_004599		7	242						7	242	---	---	---	---
DHRSX	207063	broad.mit.edu	37	X	2343335	2343336	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chrX:2343335_2343336insG	ENST00000334651.5	-	2	171_172	c.119_120insC	c.(118-120)ccafs	p.P40fs		NM_145177.2	NP_660160.2	Q8N5I4	DHRSX_HUMAN	dehydrogenase/reductase (SDR family) X-linked	40							oxidoreductase activity (GO:0016491)			endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)	16		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				GGTCAGGTCGTGGGGGGAAAAC	0.455																																						ENST00000334651.5																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)	16						c.(118-120)ccgfs		dehydrogenase/reductase (SDR family) X-linked																																				SO:0001589	frameshift_variant	207063						binding|oxidoreductase activity	g.chrX:2343335_2343336insG	AJ293620	CCDS35195.1	Xp22.33 and Yp11.2	2014-05-07	2003-09-12		ENSG00000169084	ENSG00000169084		"""Pseudoautosomal regions / PAR1"""	18399	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 7C, member 6"", ""short chain dehydrogenase/reductase family 46C, member 1"", ""dehydrogenase/reductase (SDR family) Y-linked"""		"""dehydrogenase/reductase (SDR family) X chromosome"""			11731500, 19027726	Standard	NM_145177		Approved	DHRS5X, DHRSXY, DHRSY, DHRS5Y, SDR46C1, SDR7C6	uc004cqf.4	Q8N5I4	OTTHUMG00000021068	ENST00000334651.5:c.120dupC	X.37:g.2343341_2343341dupG	ENSP00000334113:p.Pro40fs		Somatic					p.P40fs	NM_145177.2	NP_660160.2	WXS	Illumina GAIIx	Phase_I	Q8N5I4	DHRSX_HUMAN			2	171_172	-		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)	40					Q6UWC7|Q8WUS4|Q96GR8|Q9NTF6	Frame_Shift_Ins	INS	ENST00000334651.5	37	c.119_120insC	CCDS35195.1																																																																																				0.455	DHRSX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055617.3	NM_145177		9	517						9	517	---	---	---	---
MID1	4281	broad.mit.edu	37	X	10417613	10417614	+	Frame_Shift_Ins	INS	-	-	G	rs398123342|rs1802191		TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chrX:10417613_10417614insG	ENST00000317552.4	-	10	2198_2199	c.1798_1799insC	c.(1798-1800)cacfs	p.H600fs	MID1_ENST00000380782.2_3'UTR|MID1_ENST00000453318.2_Frame_Shift_Ins_p.H600fs|MID1_ENST00000380780.1_Frame_Shift_Ins_p.H600fs|MID1_ENST00000479925.1_5'UTR|MID1_ENST00000380779.1_Frame_Shift_Ins_p.H600fs|MID1_ENST00000380785.1_Frame_Shift_Ins_p.H600fs|MID1_ENST00000380787.1_Frame_Shift_Ins_p.H600fs	NM_000381.3|NM_033289.1	NP_000372.1|NP_150631.1	O15344	TRI18_HUMAN	midline 1	600	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				microtubule cytoskeleton organization (GO:0000226)|negative regulation of microtubule depolymerization (GO:0007026)|pattern specification process (GO:0007389)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein localization to microtubule (GO:0035372)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	ligase activity (GO:0016874)|microtubule binding (GO:0008017)|phosphoprotein binding (GO:0051219)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	26						GCGCCGGAGGTGGGGGGCAGGC	0.54																																						ENST00000317552.4																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	26	GRCh37	CD071368|CI067580	MID1	D|I	rs1802191	c.(1798-1800)cctfs		midline 1 (Opitz/BBB syndrome)																																				SO:0001589	frameshift_variant	4281				microtubule cytoskeleton organization|pattern specification process|positive regulation of stress-activated MAPK cascade	cytoplasm|microtubule|microtubule associated complex|spindle	ligase activity|ubiquitin protein ligase binding|zinc ion binding	g.chrX:10417613_10417614insG	Y13667	CCDS14138.1, CCDS75952.1, CCDS75953.1	Xp22	2014-06-18	2014-06-18		ENSG00000101871	ENSG00000101871		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Fibronectin type III domain containing"""	7095	protein-coding gene	gene with protein product	"""Opitz/BBB syndrome"""	300552				9354791, 9425238	Standard	NM_001098624		Approved	OS, FXY, TRIM18, RNF59	uc004cti.4	O15344	OTTHUMG00000021127	ENST00000317552.4:c.1799dupC	X.37:g.10417619_10417619dupG	ENSP00000312678:p.His600fs		Somatic				MID1_ENST00000380787.1_Frame_Shift_Ins_p.P600fs|MID1_ENST00000479925.1_5'UTR|MID1_ENST00000453318.2_Frame_Shift_Ins_p.P600fs|MID1_ENST00000380779.1_Frame_Shift_Ins_p.P600fs|MID1_ENST00000380780.1_Frame_Shift_Ins_p.P600fs|MID1_ENST00000380782.2_3'UTR|MID1_ENST00000380785.1_Frame_Shift_Ins_p.P600fs	p.P600fs	NM_000381.3|NM_033289.1	NP_000372.1|NP_150631.1	WXS	Illumina GAIIx	Phase_I	O15344	TRI18_HUMAN			10	2198_2199	-			600			B30.2/SPRY.		B2RCG2|O75361|Q9BZX5	Frame_Shift_Ins	INS	ENST00000317552.4	37	c.1798_1799insC	CCDS14138.1																																																																																				0.540	MID1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055738.1			13	1152						13	1152	---	---	---	---
PRRG1	5638	broad.mit.edu	37	X	37312610	37312611	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chrX:37312610_37312611insC	ENST00000542554.1	+	5	665_666	c.393_394insC	c.(394-396)cccfs	p.P132fs	PRRG1_ENST00000449135.2_Frame_Shift_Ins_p.P132fs|TM4SF2_ENST00000465127.1_Intron|PRRG1_ENST00000378628.4_Frame_Shift_Ins_p.P132fs|PRRG1_ENST00000543642.1_Frame_Shift_Ins_p.P132fs|PRRG1_ENST00000491253.1_3'UTR	NM_001173489.1	NP_001166960.1	O14668	TMG1_HUMAN	proline rich Gla (G-carboxyglutamic acid) 1	132	Poly-Pro.					extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.P135fs*3(1)|p.P134fs*19(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	15						TTATCACCCCACCCCCCCCACC	0.485																																						ENST00000542554.1																			2	Deletion - Frameshift(1)|Insertion - Frameshift(1)	p.P135fs*3(1)|p.P134fs*19(1)	ovary(2)	breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	15						c.(391-396)ccccccfs		proline rich Gla (G-carboxyglutamic acid) 1																																				SO:0001589	frameshift_variant	5638					extracellular region|integral to plasma membrane	calcium ion binding	g.chrX:37312610_37312611insC	AF009242	CCDS14239.1, CCDS55397.1	Xp21.1	2010-08-13	2004-05-27		ENSG00000130962	ENSG00000130962			9469	protein-coding gene	gene with protein product		604428	"""proline-rich Gla (G-carboxyglutamic acid) polypeptide 1"""			9256434	Standard	NM_000950		Approved	PRGP1	uc004ddo.3	O14668	OTTHUMG00000021360	ENST00000542554.1:c.401dupC	X.37:g.37312618_37312618dupC	ENSP00000444278:p.Pro132fs		Somatic				PRRG1_ENST00000543642.1_Frame_Shift_Ins_p.PP131fs|PRRG1_ENST00000378628.4_Frame_Shift_Ins_p.PP131fs|TM4SF2_ENST00000465127.1_Intron|PRRG1_ENST00000491253.1_3'UTR|PRRG1_ENST00000449135.2_Frame_Shift_Ins_p.PP131fs	p.PP131fs	NM_001173489.1	NP_001166960.1	WXS	Illumina GAIIx	Phase_I	O14668	TMG1_HUMAN			5	665_666	+			131			Poly-Pro.		B2R7A3|C9JXL7|D3DWA9|Q5JT66	Frame_Shift_Ins	INS	ENST00000542554.1	37	c.393_394insC	CCDS14239.1																																																																																				0.485	PRRG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056228.2	NM_000950		8	154						8	154	---	---	---	---
SSX9	280660	broad.mit.edu	37	X	48159107	48159108	+	RNA	INS	-	-	G	rs41305745		TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chrX:48159107_48159108insG	ENST00000608568.1	-	0	580					NR_073393.1		Q7RTT3	SSX9_HUMAN	synovial sarcoma, X breakpoint 9						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)			breast(1)|endometrium(1)|kidney(2)|lung(2)|prostate(1)|stomach(1)	8						TTGGTTTTCCCGGGGGGCACAG	0.49																																						ENST00000376909.1																			0				breast(1)|endometrium(1)|kidney(2)|lung(2)|prostate(1)|stomach(1)	8						c.(424-426)cggfs																																								280660							g.chrX:48159107_48159108insG	BK000689		Xp11.23	2013-01-16			ENSG00000204648	ENSG00000204648			19655	other	unknown		300544				12216073	Standard	NR_073393		Approved		uc031tjk.1	Q7RTT3	OTTHUMG00000021490		X.37:g.48159113_48159113dupG			Somatic				SSX9_ENST00000407081.2_Frame_Shift_Ins_p.R142fs	p.R142fs			WXS	Illumina GAIIx	Phase_I					6	487_488	-									Frame_Shift_Ins	INS	ENST00000608568.1	37	c.425_426insC																																																																																					0.490	SSX9-002	KNOWN	basic	retained_intron	pseudogene	OTTHUMT00000472372.1	NR_073393		8	337						8	337	---	---	---	---
SSX3	10214	broad.mit.edu	37	X	48207024	48207025	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chrX:48207024_48207025insC	ENST00000298396.2	-	7	533_534	c.481_482insG	c.(481-483)gaafs	p.E161fs	SSX3_ENST00000376895.1_Frame_Shift_Ins_p.E73fs	NM_021014.2	NP_066294.1	Q99909	SSX3_HUMAN	synovial sarcoma, X breakpoint 3	161					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)			endometrium(3)|large_intestine(1)|lung(9)	13						CCAGGCATGTTCCCCCCTTTTG	0.48																																					Colon(37;227 826 19399 40970 48007)	ENST00000298396.2																			0				endometrium(3)|large_intestine(1)|lung(9)	13						c.(481-483)acafs		synovial sarcoma, X breakpoint 3																																				SO:0001589	frameshift_variant	10214				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding	g.chrX:48207024_48207025insC	U90840	CCDS14291.1	Xp11.23	2009-06-17			ENSG00000165584	ENSG00000165584			11337	protein-coding gene	gene with protein product		300325				8697803, 9378559	Standard	NM_021014		Approved	CT5.3	uc004djd.1	Q99909	OTTHUMG00000021489	ENST00000298396.2:c.482dupG	X.37:g.48207030_48207030dupC	ENSP00000298396:p.Glu161fs		Somatic				SSX3_ENST00000376895.1_Frame_Shift_Ins_p.T73fs	p.T161fs	NM_021014.2	NP_066294.1	WXS	Illumina GAIIx	Phase_I	Q99909	SSX3_HUMAN			7	533_534	-			161					O60223|Q5JQZ3|Q9BRW7	Frame_Shift_Ins	INS	ENST00000298396.2	37	c.481_482insG	CCDS14291.1																																																																																				0.480	SSX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056486.1	NM_021014		14	675						14	675	---	---	---	---
SSX3	10214	broad.mit.edu	37	X	48209462	48209463	+	Frame_Shift_Ins	INS	-	-	G	rs6651589	byFrequency	TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chrX:48209462_48209463insG	ENST00000298396.2	-	6	477_478	c.425_426insC	c.(424-426)ccgfs	p.P142fs	SSX3_ENST00000376893.3_Frame_Shift_Ins_p.P142fs|SSX3_ENST00000376895.1_Frame_Shift_Ins_p.P54fs	NM_021014.2	NP_066294.1	Q99909	SSX3_HUMAN	synovial sarcoma, X breakpoint 3	142					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)	p.P142Q(2)		endometrium(3)|large_intestine(1)|lung(9)	13						TTGGTTTTCCCGGGGGGCACAG	0.495																																					Colon(37;227 826 19399 40970 48007)	ENST00000298396.2																			2	Substitution - Missense(2)	p.P142Q(2)	lung(2)	endometrium(3)|large_intestine(1)|lung(9)	13						c.(424-426)cggfs		synovial sarcoma, X breakpoint 3																																				SO:0001589	frameshift_variant	10214				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding	g.chrX:48209462_48209463insG	U90840	CCDS14291.1	Xp11.23	2009-06-17			ENSG00000165584	ENSG00000165584			11337	protein-coding gene	gene with protein product		300325				8697803, 9378559	Standard	NM_021014		Approved	CT5.3	uc004djd.1	Q99909	OTTHUMG00000021489	ENST00000298396.2:c.426dupC	X.37:g.48209468_48209468dupG	ENSP00000298396:p.Pro142fs		Somatic				SSX3_ENST00000376895.1_Frame_Shift_Ins_p.R54fs|SSX3_ENST00000376893.3_Frame_Shift_Ins_p.R142fs	p.R142fs	NM_021014.2	NP_066294.1	WXS	Illumina GAIIx	Phase_I	Q99909	SSX3_HUMAN			6	477_478	-			142					O60223|Q5JQZ3|Q9BRW7	Frame_Shift_Ins	INS	ENST00000298396.2	37	c.425_426insC	CCDS14291.1																																																																																				0.495	SSX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056486.1	NM_021014		10	360						10	360	---	---	---	---
TFE3	7030	broad.mit.edu	37	X	48887951	48887952	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chrX:48887951_48887952insC	ENST00000315869.7	-	10	1704_1705	c.1445_1446insG	c.(1444-1446)ggafs	p.G482fs	TFE3_ENST00000487451.1_5'Flank	NM_006521.4	NP_006512.2	P19532	TFE3_HUMAN	transcription factor binding to IGHM enhancer 3	482					humoral immune response (GO:0006959)|positive regulation of cell adhesion (GO:0045785)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of osteoclast differentiation (GO:0045670)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)		NONO/TFE3(2)|PRCC/TFE3(25)|SFPQ/TFE3(6)|CLTC/TFE3(2)|ASPSCR1/TFE3(167)	central_nervous_system(1)	1						TCTGGGCAGGTCCCCCCCCTAC	0.649			T	"""SFPQ, ASPSCR1, PRCC, NONO, CLTC"""	"""papillary renal, alveolar soft part sarcoma, renal"""																																	ENST00000315869.7				Dom	yes		X	Xp11.22	7030	T	transcription factor binding to IGHM enhancer 3			E	"""SFPQ, ASPSCR1, PRCC, NONO, CLTC"""		"""papillary renal, alveolar soft part sarcoma, renal"""	NONO/TFE3(2)|PRCC/TFE3(25)|SFPQ/TFE3(6)|CLTC/TFE3(2)|ASPSCR1/TFE3(167)	0				central_nervous_system(1)	1						c.(1444-1446)gccfs		transcription factor binding to IGHM enhancer 3																																				SO:0001589	frameshift_variant	7030				humoral immune response|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chrX:48887951_48887952insC	X96717	CCDS14315.3	Xp11.22	2013-05-21			ENSG00000068323	ENSG00000068323		"""Basic helix-loop-helix proteins"""	11752	protein-coding gene	gene with protein product	transcription factor E family, member A	314310				1672758, 1685140	Standard	NM_006521		Approved	TFEA, bHLHe33	uc004dmb.3	P19532	OTTHUMG00000022690	ENST00000315869.7:c.1446dupG	X.37:g.48887959_48887959dupC	ENSP00000314129:p.Gly482fs		Somatic				TFE3_ENST00000493583.1_5'UTR	p.A482fs	NM_006521.4	NP_006512.2	WXS	Illumina GAIIx	Phase_I	P19532	TFE3_HUMAN			10	1704_1705	-			482					A8MZL6|Q5JU74|Q92757|Q92758|Q99964	Frame_Shift_Ins	INS	ENST00000315869.7	37	c.1445_1446insG	CCDS14315.3																																																																																				0.649	TFE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058872.2	NM_006521		24	290						24	290	---	---	---	---
NOX1	27035	broad.mit.edu	37	X	100117691	100117692	+	Frame_Shift_Ins	INS	-	-	C	rs145552525	byFrequency	TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chrX:100117691_100117692insC	ENST00000372966.3	-	5	660_661	c.455_456insG	c.(454-456)ggtfs	p.G152fs	NOX1_ENST00000217885.5_Frame_Shift_Ins_p.G152fs|NOX1_ENST00000372964.1_Frame_Shift_Ins_p.G152fs|NOX1_ENST00000372960.4_Frame_Shift_Ins_p.G115fs	NM_007052.4|NM_013955.2	NP_008983.2|NP_039249.1	Q9Y5S8	NOX1_HUMAN	NADPH oxidase 1	152	Ferric oxidoreductase.				angiogenesis (GO:0001525)|cell migration (GO:0016477)|cellular response to hyperoxia (GO:0071455)|cellular stress response to acidic pH (GO:1990451)|extracellular matrix organization (GO:0030198)|hydrogen peroxide metabolic process (GO:0042743)|inflammatory response (GO:0006954)|intracellular pH elevation (GO:0051454)|NADP metabolic process (GO:0006739)|oxidation-reduction process (GO:0055114)|oxygen metabolic process (GO:0072592)|positive regulation of cell proliferation (GO:0008284)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of JNK cascade (GO:0046330)|positive regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902177)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation vascular endothelial growth factor production (GO:0010575)|proton transport (GO:0015992)|regulation of blood pressure (GO:0008217)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|respiratory burst (GO:0045730)|signal transduction (GO:0007165)|superoxide anion generation (GO:0042554)|superoxide metabolic process (GO:0006801)	cell junction (GO:0030054)|early endosome (GO:0005769)|integral component of membrane (GO:0016021)|invadopodium membrane (GO:0071438)|NADPH oxidase complex (GO:0043020)	metal ion binding (GO:0046872)|NADP binding (GO:0050661)|Rac GTPase binding (GO:0048365)|superoxide-generating NADPH oxidase activity (GO:0016175)|voltage-gated proton channel activity (GO:0030171)			cervix(1)|lung(3)|ovary(1)|skin(2)	7						TTAGCCAAGAACCCCCCTTTTT	0.5																																						ENST00000372966.3																			0				cervix(1)|lung(3)|ovary(1)|skin(2)	7						c.(454-456)gtcfs		NADPH oxidase 1																																				SO:0001589	frameshift_variant	27035				angiogenesis|cell migration|electron transport chain|FADH2 metabolic process|hydrogen peroxide metabolic process|inflammatory response|intracellular pH elevation|positive regulation of integrin biosynthetic process|positive regulation of smooth muscle cell proliferation|positive regulation vascular endothelial growth factor production|respiratory burst|response to pH|signal transduction|superoxide anion generation	cell junction|early endosome|invadopodium membrane|NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|Rac GTPase binding|superoxide-generating NADPH oxidase activity|voltage-gated proton channel activity	g.chrX:100117691_100117692insC	AF127763	CCDS14474.1, CCDS14475.1, CCDS65298.1	Xq22	2008-08-01			ENSG00000007952	ENSG00000007952			7889	protein-coding gene	gene with protein product	"""mitogenic oxidase (pyridine nucleotide-dependent superoxide-generating)"", ""NADPH oxidase homolog-1"", ""NADPH oxidase 1 variant NOH-1L"""	300225				10485709, 10615049	Standard	NM_007052		Approved	NOH1, NOH-1, MOX1, GP91-2	uc004egj.3	Q9Y5S8	OTTHUMG00000022007	ENST00000372966.3:c.456dupG	X.37:g.100117697_100117697dupC	ENSP00000362057:p.Gly152fs		Somatic				NOX1_ENST00000217885.5_Frame_Shift_Ins_p.V152fs|NOX1_ENST00000372964.1_Frame_Shift_Ins_p.V152fs|NOX1_ENST00000372960.4_Frame_Shift_Ins_p.V115fs	p.V152fs	NM_007052.4|NM_013955.2	NP_008983.2|NP_039249.1	WXS	Illumina GAIIx	Phase_I	Q9Y5S8	NOX1_HUMAN			5	660_661	-			152			Ferric oxidoreductase.		A8K836|O95691|Q2PP02	Frame_Shift_Ins	INS	ENST00000372966.3	37	c.455_456insG	CCDS14474.1																																																																																				0.500	NOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057495.1	NM_007052		7	593						7	593	---	---	---	---
ZNF449	203523	broad.mit.edu	37	X	134494267	134494268	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chrX:134494267_134494268insC	ENST00000339249.4	+	5	963_964	c.823_824insC	c.(823-825)accfs	p.T275fs		NM_152695.5	NP_689908.3	Q6P9G9	ZN449_HUMAN	zinc finger protein 449	275					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					TCAATGGGAAACCCCCCCAGAG	0.436																																						ENST00000339249.4																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)	23						c.(823-825)cccfs		zinc finger protein 449																																				SO:0001589	frameshift_variant	203523				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:134494267_134494268insC	AY280801	CCDS14649.1	Xq26.3	2013-01-09			ENSG00000173275	ENSG00000173275		"""-"", ""Zinc fingers, C2H2-type"""	21039	protein-coding gene	gene with protein product		300627					Standard	NM_152695		Approved	ZSCAN19, FLJ23614	uc004eys.3	Q6P9G9	OTTHUMG00000022478	ENST00000339249.4:c.830dupC	X.37:g.134494274_134494274dupC	ENSP00000339585:p.Thr275fs		Somatic					p.P275fs	NM_152695.5	NP_689908.3	WXS	Illumina GAIIx	Phase_I	Q6P9G9	ZN449_HUMAN			5	963_964	+	Acute lymphoblastic leukemia(192;6.56e-05)		275					Q5JRZ7|Q5JRZ8|Q6NZX2|Q8N3Q1|Q8TED7	Frame_Shift_Ins	INS	ENST00000339249.4	37	c.823_824insC	CCDS14649.1																																																																																				0.436	ZNF449-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058411.1	NM_152695		7	141						7	141	---	---	---	---
MAP7D3	79649	broad.mit.edu	37	X	135314193	135314194	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chrX:135314193_135314194insG	ENST00000316077.9	-	8	1142_1143	c.922_923insC	c.(922-924)cagfs	p.Q308fs	MAP7D3_ENST00000370663.5_Frame_Shift_Ins_p.Q290fs|MAP7D3_ENST00000370661.1_Frame_Shift_Ins_p.Q273fs	NM_024597.3	NP_078873.2	Q8IWC1	MA7D3_HUMAN	MAP7 domain containing 3	308					microtubule cytoskeleton organization (GO:0000226)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)				central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1)	44	Acute lymphoblastic leukemia(192;0.000127)					CACATTCACCTGGGGGGGTGCA	0.535																																						ENST00000316077.9																			0				central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1)	44						c.(922-924)ggtfs		MAP7 domain containing 3																																				SO:0001589	frameshift_variant	79649					cytoplasm|spindle		g.chrX:135314193_135314194insG	AL832120	CCDS44004.1, CCDS55508.1, CCDS55509.1	Xq26.3	2014-08-13			ENSG00000129680	ENSG00000129680			25742	protein-coding gene	gene with protein product		300930				24927501	Standard	NM_001173516		Approved	FLJ12649	uc004ezt.3	Q8IWC1	OTTHUMG00000022507	ENST00000316077.9:c.923dupC	X.37:g.135314200_135314200dupG	ENSP00000318086:p.Gln308fs		Somatic				MAP7D3_ENST00000370661.1_Frame_Shift_Ins_p.G273fs|MAP7D3_ENST00000370663.5_Frame_Shift_Ins_p.G290fs	p.G308fs	NM_024597.3	NP_078873.2	WXS	Illumina GAIIx	Phase_I	Q8IWC1	MA7D3_HUMAN			8	1142_1143	-	Acute lymphoblastic leukemia(192;0.000127)		308					A2A2J0|A6NCZ7|A6NHR4|B4DWD2|H7BY77|Q5JXI5|Q5JXI6|Q6P2S1|Q9H9M8	Frame_Shift_Ins	INS	ENST00000316077.9	37	c.922_923insC	CCDS44004.1																																																																																				0.535	MAP7D3-001	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058487.2			11	226						11	226	---	---	---	---
SCN1A	6323	broad.mit.edu	37	2	166903319	166903321	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-AS-3777-01A-01D-0966-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b771fd10-af27-4da6-aa24-7ecc2d1474e0	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr2:166903319_166903321delCTG	ENST00000303395.4	-	9	1335_1337	c.1336_1338delCAG	c.(1336-1338)cagdel	p.Q446del	SCN1A_ENST00000423058.2_In_Frame_Del_p.Q446del|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000375405.3_In_Frame_Del_p.Q446del|AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000409050.1_In_Frame_Del_p.Q446del			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	446					adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GTTCAATCATCTGCTGAAATTCG	0.458																																						ENST00000423058.2																			0				NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200						c.(1336-1338)del		sodium channel, voltage-gated, type I, alpha subunit	Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)																																			SO:0001651	inframe_deletion	6323					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166903319_166903321delCTG	AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10585	protein-coding gene	gene with protein product		182389	"""febrile convulsions 3"""	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.1336_1338delCAG	2.37:g.166903322_166903324delCTG	ENSP00000303540:p.Gln446del		Somatic				SCN1A_ENST00000409050.1_In_Frame_Del_p.Q446del|SCN1A_ENST00000375405.3_In_Frame_Del_p.Q446del|AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000303395.4_In_Frame_Del_p.Q446del|AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000599041.1_RNA	p.Q446del	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	WXS	Illumina GAIIx	Phase_I	P35498	SCN1A_HUMAN			9	1353_1355	-			446					E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	In_Frame_Del	DEL	ENST00000303395.4	37	c.1336_1338delCAG	CCDS54413.1																																																																																				0.458	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	NM_006920		45	42						45	42	---	---	---	---
FIP1L1	81608	broad.mit.edu	37	4	54319248	54319249	+	Frame_Shift_Del	DEL	AG	AG	-	rs143671659		TCGA-AS-3777-01A-01D-0966-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b771fd10-af27-4da6-aa24-7ecc2d1474e0	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr4:54319248_54319249delAG	ENST00000337488.6	+	16	1641_1642	c.1447_1448delAG	c.(1447-1449)agafs	p.R483fs	FIP1L1_ENST00000306932.6_Frame_Shift_Del_p.R409fs|FIP1L1_ENST00000358575.5_Frame_Shift_Del_p.R477fs|FIP1L1_ENST00000507166.1_Intron	NM_030917.3	NP_112179.2	Q6UN15	FIP1_HUMAN	factor interacting with PAPOLA and CPSF1	483	Arg-rich.|Glu-rich.|Sufficient for interaction with CPSF1 and CSTF3.				mRNA processing (GO:0006397)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.R487fs*3(2)		large_intestine(3)|liver(1)|ovary(1)|skin(1)	6			GBM - Glioblastoma multiforme(3;3.31e-36)|LUSC - Lung squamous cell carcinoma(32;0.0134)			agaACGCACCAGAGAGAGAGAG	0.47			T	PDGFRA	idiopathic hypereosinophilic syndrome																																	ENST00000337488.6				Dom	yes		4	4q12	81608	T	FIP1 like 1 (S. cerevisiae)			L	PDGFRA		idiopathic hypereosinophilic syndrome		2	Deletion - Frameshift(2)	p.R487fs*3(2)	large_intestine(1)|kidney(1)	large_intestine(3)|liver(1)|ovary(1)|skin(1)	6						c.(1447-1449)afs		factor interacting with PAPOLA and CPSF1																																				SO:0001589	frameshift_variant	81608				mRNA processing	nucleus	RNA binding	g.chr4:54319248_54319249delAG	AF161429	CCDS3491.1, CCDS47055.1, CCDS47056.1	4q12	2013-06-18	2013-06-18		ENSG00000145216	ENSG00000145216			19124	protein-coding gene	gene with protein product		607686	"""FIP1 like 1 (S. cerevisiae)"", ""FIP1L1 cleavage and polyadenylation specific factor subunit"""			11230166, 14749727	Standard	NM_030917		Approved	DKFZp586K0717, FIP1	uc003hae.3	Q6UN15	OTTHUMG00000128701	ENST00000337488.6:c.1447_1448delAG	4.37:g.54319258_54319259delAG	ENSP00000336752:p.Arg483fs		Somatic				FIP1L1_ENST00000358575.5_Frame_Shift_Del_p.R477fs|FIP1L1_ENST00000306932.6_Frame_Shift_Del_p.R409fs|FIP1L1_ENST00000507166.1_Intron	p.R483fs	NM_030917.3	NP_112179.2	WXS	Illumina GAIIx	Phase_I	Q6UN15	FIP1_HUMAN	GBM - Glioblastoma multiforme(3;3.31e-36)|LUSC - Lung squamous cell carcinoma(32;0.0134)		16	1641_1642	+			483			Arg-rich.|Glu-rich.|Sufficient for interaction with CPSF1 and CSTF3.		B4DIR3|G3XAD6|Q0VGE0|Q499Y4|Q49AU3|Q7Z608|Q8WVN3|Q96F80|Q9H077	Frame_Shift_Del	DEL	ENST00000337488.6	37	c.1447_1448delAG	CCDS3491.1																																																																																				0.470	FIP1L1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250602.1	NM_030917		8	167						8	167	---	---	---	---
PODXL	5420	broad.mit.edu	37	7	131241030	131241035	+	In_Frame_Del	DEL	GGCGAC	GGCGAC	-	rs11277659|rs547816245|rs532078953	byFrequency	TCGA-AS-3777-01A-01D-0966-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b771fd10-af27-4da6-aa24-7ecc2d1474e0	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr7:131241030_131241035delGGCGAC	ENST00000378555.3	-	1	331_336	c.84_89delGTCGCC	c.(82-90)ccgtcgccc>ccc	p.28_30PSP>P	PODXL_ENST00000465001.1_Intron|PODXL_ENST00000541194.1_In_Frame_Del_p.28_30PSP>P|PODXL_ENST00000322985.9_In_Frame_Del_p.28_30PSP>P|PODXL_ENST00000537928.1_In_Frame_Del_p.28_30PSP>P			O00592	PODXL_HUMAN	podocalyxin-like	28					cell adhesion (GO:0007155)|cell migration (GO:0016477)|epithelial tube formation (GO:0072175)|glomerular visceral epithelial cell development (GO:0072015)|leukocyte migration (GO:0050900)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell-cell adhesion (GO:0022408)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-cell adhesion mediated by integrin (GO:0033634)|regulation of microvillus assembly (GO:0032534)	apical plasma membrane (GO:0016324)|cell body (GO:0044297)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|slit diaphragm (GO:0036057)		p.P30_S31delPS(2)		NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Melanoma(18;0.162)					ATTCTGGGAGggcgacggcgacggcg	0.748																																						ENST00000541194.1																			2	Deletion - In frame(2)	p.P30_S31delPS(2)	prostate(2)	NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24						c.(82-90)ccc>cc		podocalyxin-like																																				SO:0001651	inframe_deletion	5420				cell adhesion|epithelial tube formation|negative regulation of cell-cell adhesion|positive regulation of cell migration|positive regulation of cell-cell adhesion mediated by integrin|regulation of microvillus assembly	actin cytoskeleton|apical plasma membrane|centrosome|filopodium|integral to plasma membrane|lamellipodium|membrane raft|microvillus membrane|nucleolus|ruffle		g.chr7:131241030_131241035delGGCGAC		CCDS34755.1, CCDS47714.1	7q32-q33	2008-07-18			ENSG00000128567	ENSG00000128567			9171	protein-coding gene	gene with protein product		602632					Standard	NM_001018111		Approved	PCLP, Gp200, PC	uc003vqx.4	O00592	OTTHUMG00000154918	ENST00000378555.3:c.84_89delGTCGCC	7.37:g.131241036_131241041delGGCGAC	ENSP00000367817:p.Pro30_Ser31del		Somatic				PODXL_ENST00000378555.3_In_Frame_Del_p.PSP28del|PODXL_ENST00000465001.1_Intron|PODXL_ENST00000537928.1_In_Frame_Del_p.PSP28del|PODXL_ENST00000322985.9_In_Frame_Del_p.PSP28del	p.PSP28del	NM_001018111.2	NP_001018121.1	WXS	Illumina GAIIx	Phase_I	O00592	PODXL_HUMAN			1	341_346	-	Melanoma(18;0.162)		28					A6NHX8|Q52LZ7|Q53ER6	In_Frame_Del	DEL	ENST00000378555.3	37	c.84_89delGTCGCC	CCDS34755.1																																																																																				0.748	PODXL-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000337627.2	NM_001018111		4	4						4	4	---	---	---	---
UBC	7316	broad.mit.edu	37	12	125398295	125398296	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-AS-3777-01A-01D-0966-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b771fd10-af27-4da6-aa24-7ecc2d1474e0	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr12:125398295_125398296delAG	ENST00000538617.1	-	3	338_339	c.22_23delCT	c.(22-24)ctgfs	p.L8fs	MIR5188_ENST00000583467.1_RNA|UBC_ENST00000546120.1_Frame_Shift_Del_p.L8fs|UBC_ENST00000536769.1_Frame_Shift_Del_p.L8fs|UBC_ENST00000536661.1_5'UTR|UBC_ENST00000339647.5_Frame_Shift_Del_p.L8fs			P0CG48	UBC_HUMAN	ubiquitin C	388	Ubiquitin-like 1. {ECO:0000255|PROSITE- ProRule:PRU00214}.				activation of MAPK activity (GO:0000187)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|carbohydrate metabolic process (GO:0005975)|cellular response to hypoxia (GO:0071456)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular transport of virus (GO:0075733)|ion transmembrane transport (GO:0034220)|JNK cascade (GO:0007254)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of type I interferon production (GO:0032479)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protease binding (GO:0002020)			breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		CTTACCAGTCAGAGTCTTCACG	0.45																																						ENST00000536769.1																			0				breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(22-24)gfs		ubiquitin C																																				SO:0001589	frameshift_variant	7316				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding	g.chr12:125398295_125398296delAG		CCDS9260.1	12q24.3	2008-09-08			ENSG00000150991	ENSG00000150991			12468	protein-coding gene	gene with protein product	"""polyubiquitin-C"""	191340				1315303, 11872750	Standard	NM_021009		Approved		uc001ugs.4	P0CG48		ENST00000538617.1:c.22_23delCT	12.37:g.125398297_125398298delAG	ENSP00000443053:p.Leu8fs		Somatic				UBC_ENST00000536661.1_5'UTR|UBC_ENST00000339647.5_Frame_Shift_Del_p.L8fs|UBC_ENST00000538617.1_Frame_Shift_Del_p.L8fs|UBC_ENST00000546120.1_Frame_Shift_Del_p.L8fs	p.L8fs			WXS	Illumina GAIIx	Phase_I	P0CG48	UBC_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)	1	1598_1599	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		8			Ubiquitin-like 1.		P02248|P02249|P02250|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Frame_Shift_Del	DEL	ENST00000538617.1	37	c.22_23delCT																																																																																					0.450	UBC-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000400179.1	NM_021009		7	352						7	352	---	---	---	---
MESP2	145873	broad.mit.edu	37	15	90320135	90320146	+	In_Frame_Del	DEL	GGGCAGGGGCAG	GGGCAGGGGCAG	-	rs56192595|rs28546919|rs200021459|rs199821487	byFrequency	TCGA-AS-3777-01A-01D-0966-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b771fd10-af27-4da6-aa24-7ecc2d1474e0	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr15:90320135_90320146delGGGCAGGGGCAG	ENST00000341735.3	+	1	547_558	c.547_558delGGGCAGGGGCAG	c.(547-558)gggcaggggcagdel	p.GQGQ199del	MESP2_ENST00000558723.1_Intron|MESP2_ENST00000560219.1_Intron	NM_001039958.1	NP_001035047.1	Q0VG99	MESP2_HUMAN	mesoderm posterior basic helix-loop-helix transcription factor 2	199	13 X 2 AA tandem repeats of G-Q.				mesodermal cell migration (GO:0008078)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction involved in regulation of gene expression (GO:0023019)|somite rostral/caudal axis specification (GO:0032525)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q198_G205delQGQGQGQG(1)		kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)			gcaggggcaagggcaggggcaggggcaggggc	0.783																																						ENST00000341735.3																			1	Deletion - In frame(1)	p.Q198_G205delQGQGQGQG(1)	upper_aerodigestive_tract(1)	kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						c.(547-558)del		mesoderm posterior 2 homolog (mouse)																																				SO:0001651	inframe_deletion	145873				Notch signaling pathway	nucleus	DNA binding	g.chr15:90320135_90320146delGGGCAGGGGCAG		CCDS42078.1	15q26.1	2014-06-30	2014-06-30			ENSG00000188095		"""Basic helix-loop-helix proteins"""	29659	protein-coding gene	gene with protein product		605195	"""mesoderm posterior 2 homolog (mouse)"""			11578861	Standard	NM_001039958		Approved	SCDO2, bHLHc6	uc002bon.3	Q0VG99		ENST00000341735.3:c.547_558delGGGCAGGGGCAG	15.37:g.90320135_90320146delGGGCAGGGGCAG	ENSP00000342392:p.Gly199_Gln202del		Somatic				MESP2_ENST00000560219.1_Intron|MESP2_ENST00000558723.1_Intron	p.GQGQ199del	NM_001039958.1	NP_001035047.1	WXS	Illumina GAIIx	Phase_I	Q0VG99	MESP2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)		1	547_558	+	Lung NSC(78;0.0221)|all_lung(78;0.0448)		199			13 X 2 AA tandem repeats of G-Q.		Q7RTU2	In_Frame_Del	DEL	ENST00000341735.3	37	c.547_558delGGGCAGGGGCAG	CCDS42078.1																																																																																				0.783	MESP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416421.1	XM_085261		2	4						2	4	---	---	---	---
CCDC144B	284047	broad.mit.edu	37	17	18498497	18498498	+	RNA	INS	-	-	A	rs397961350|rs59933375|rs80104188	byFrequency	TCGA-AS-3777-01A-01D-0966-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b771fd10-af27-4da6-aa24-7ecc2d1474e0	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr17:18498497_18498498insA	ENST00000442583.1	-	0	749							Q3MJ40	C144B_HUMAN	coiled-coil domain containing 144B (pseudogene)											NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(6)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	36						CTGCAGGCCTGAAAAAAAAAAA	0.243														2618	0.522764	0.528	0.4683	5008	,	,		15585	0.6756		0.4294	False		,,,				2504	0.4928					ENST00000442583.1																			0				NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(6)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	36																																														284047							g.chr17:18498497_18498498insA	AK093811		17p11.2	2012-11-19	2011-09-02		ENSG00000154874	ENSG00000154874			26704	pseudogene	pseudogene			"""coiled-coil domain containing 144B"""			11997339	Standard	NR_036647		Approved	FLJ36492	uc002guc.2	Q3MJ40	OTTHUMG00000059531		17.37:g.18498508_18498508dupA			Somatic								WXS	Illumina GAIIx	Phase_I					0	749	-								Q6P5Q3|Q8N200	RNA	INS	ENST00000442583.1	37																																																																																						0.243	CCDC144B-006	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000132102.1	NM_182568		2	4						2	4	---	---	---	---
NUFIP2	57532	broad.mit.edu	37	17	27620806	27620808	+	In_Frame_Del	DEL	TTC	TTC	-			TCGA-AS-3777-01A-01D-0966-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b771fd10-af27-4da6-aa24-7ecc2d1474e0	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr17:27620806_27620808delTTC	ENST00000225388.4	-	1	328_330	c.270_272delGAA	c.(268-273)aagaaa>aaa	p.90_91KK>K	NUFIP2_ENST00000579665.1_In_Frame_Del_p.90_91KK>K	NM_020772.2	NP_065823.1	Q7Z417	NUFP2_HUMAN	nuclear fragile X mental retardation protein interacting protein 2	90						cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|polysomal ribosome (GO:0042788)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	24			BRCA - Breast invasive adenocarcinoma(11;0.000457)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)			caGACCTGTTTTCTTCTTCGGCG	0.645																																						ENST00000225388.4																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	24						c.(268-273)aaa>aa		nuclear fragile X mental retardation protein interacting protein 2																																				SO:0001651	inframe_deletion	57532					nucleus|polysomal ribosome	protein binding|RNA binding	g.chr17:27620806_27620808delTTC	AB037742	CCDS32600.1	17q11.1	2006-03-01				ENSG00000108256			17634	protein-coding gene	gene with protein product		609356				12837692, 16407062	Standard	NM_020772		Approved	KIAA1321, MGC117262, PIG1, 182-FIP, FIP-82, 82-FIP	uc002hdy.4	Q7Z417		ENST00000225388.4:c.270_272delGAA	17.37:g.27620812_27620814delTTC	ENSP00000225388:p.Lys91del		Somatic				NUFIP2_ENST00000579665.1_In_Frame_Del_p.KK90del	p.KK90del	NM_020772.2	NP_065823.1	WXS	Illumina GAIIx	Phase_I	Q7Z417	NUFP2_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.000457)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)		1	328_330	-			90					A1L3A6|Q9P2M5	In_Frame_Del	DEL	ENST00000225388.4	37	c.270_272delGAA	CCDS32600.1																																																																																				0.645	NUFIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447015.2	NM_020772		9	260						9	260	---	---	---	---
SERPINB3	6317	broad.mit.edu	37	18	61324536	61324537	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AS-3777-01A-01D-0966-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b771fd10-af27-4da6-aa24-7ecc2d1474e0	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr18:61324536_61324537insT	ENST00000283752.5	-	6	722_723	c.579_580insA	c.(577-582)gaagatfs	p.D194fs	SERPINB3_ENST00000332821.8_Frame_Shift_Ins_p.D194fs|SERPINB11_ENST00000489748.1_RNA	NM_006919.2	NP_008850.1	P29508	SPB3_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 3	194					negative regulation of catalytic activity (GO:0043086)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of peptidase activity (GO:0010466)|negative regulation of proteolysis (GO:0045861)|regulation of proteolysis (GO:0030162)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)|virus receptor activity (GO:0001618)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						TCTTTAGTATCTTCTTTATTAA	0.292																																						ENST00000283752.5																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						c.(577-582)gaatacfs		serpin peptidase inhibitor, clade B (ovalbumin), member 3																																				SO:0001589	frameshift_variant	6317				regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity	g.chr18:61324536_61324537insT	U19568	CCDS11987.1	18q21.3	2014-02-18	2005-08-18		ENSG00000057149	ENSG00000057149		"""Serine (or cysteine) peptidase inhibitors"""	10569	protein-coding gene	gene with protein product		600517	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 3"""	SCC, SCCA1		7724531, 24172014	Standard	NM_006919		Approved	T4-A, HsT1196	uc002lji.3	P29508	OTTHUMG00000060403	ENST00000283752.5:c.580dupA	18.37:g.61324538_61324538dupT	ENSP00000283752:p.Asp194fs		Somatic				SERPINB3_ENST00000332821.8_Frame_Shift_Ins_p.Y194fs|SERPINB11_ENST00000489748.1_RNA	p.Y194fs	NM_006919.2	NP_008850.1	WXS	Illumina GAIIx	Phase_I	P29508	SPB3_HUMAN			6	722_723	-			194					A6NDM2|B2RBT5|B3W5Y6|Q53H28|Q53YB5|Q86VF3|Q86W04|Q8IWL4|Q8IXI3|Q96J21|Q9BYF8	Frame_Shift_Ins	INS	ENST00000283752.5	37	c.579_580insA	CCDS11987.1																																																																																				0.292	SERPINB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133791.1	NM_006919		8	167						8	167	---	---	---	---
ADNP2	22850	broad.mit.edu	37	18	77895551	77895552	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AS-3777-01A-01D-0966-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b771fd10-af27-4da6-aa24-7ecc2d1474e0	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr18:77895551_77895552insT	ENST00000262198.4	+	4	2710_2711	c.2255_2256insT	c.(2254-2259)tgtaagfs	p.K753fs		NM_014913.3	NP_055728.1	Q6IQ32	ADNP2_HUMAN	ADNP homeobox 2	753					cellular response to oxidative stress (GO:0034599)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell death (GO:0060548)|neuron differentiation (GO:0030182)|positive regulation of cell growth (GO:0030307)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		TGTCTGTCTTGTAAGTGCTTGG	0.475																																						ENST00000262198.4																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42						c.(2254-2256)taafs		ADNP homeobox 2																																				SO:0001589	frameshift_variant	22850				cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:77895551_77895552insT	AB020670	CCDS32853.1	18q23	2013-01-07	2007-07-17	2007-07-17	ENSG00000101544	ENSG00000101544		"""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	23803	protein-coding gene	gene with protein product			"""zinc finger protein 508"""	ZNF508			Standard	NM_014913		Approved	KIAA0863	uc002lnw.3	Q6IQ32	OTTHUMG00000172535	ENST00000262198.4:c.2256dupT	18.37:g.77895552_77895552dupT	ENSP00000262198:p.Lys753fs		Somatic					p.*752fs	NM_014913.3	NP_055728.1	WXS	Illumina GAIIx	Phase_I	Q6IQ32	ADNP2_HUMAN		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)	4	2710_2711	+		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)	752					A8K951|O94943|Q9H9P3	Frame_Shift_Ins	INS	ENST00000262198.4	37	c.2255_2256insT	CCDS32853.1																																																																																				0.475	ADNP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418979.1	NM_014913		14	344						14	344	---	---	---	---
SSU72	29101	broad.mit.edu	37	1	1500119	1500120	+	Intron	INS	-	-	G			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr1:1500119_1500120insG	ENST00000291386.3	-	2	536				SSU72_ENST00000359060.4_Frame_Shift_Ins_p.P86fs	NM_014188.2	NP_054907.1	Q9NP77	SSU72_HUMAN	SSU72 RNA polymerase II CTD phosphatase homolog (S. cerevisiae)						dephosphorylation of RNA polymerase II C-terminal domain (GO:0070940)|mRNA polyadenylation (GO:0006378)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	CTD phosphatase activity (GO:0008420)			large_intestine(2)|lung(5)	7	all_cancers(77;0.00125)|all_epithelial(69;0.000703)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.03e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;5.04e-37)|OV - Ovarian serous cystadenocarcinoma(86;3.72e-23)|GBM - Glioblastoma multiforme(42;1.2e-07)|Colorectal(212;0.000188)|COAD - Colon adenocarcinoma(227;0.000214)|Kidney(185;0.00254)|STAD - Stomach adenocarcinoma(132;0.00645)|BRCA - Breast invasive adenocarcinoma(365;0.00837)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)		GAGGACCACACGGGGGGTTTTT	0.505																																						ENST00000359060.4																			0				large_intestine(2)|lung(5)	7						c.(256-258)ctgfs		SSU72 RNA polymerase II CTD phosphatase homolog (S. cerevisiae)																																				SO:0001627	intron_variant	29101				mRNA processing	cytoplasm|nucleus	phosphoprotein phosphatase activity	g.chr1:1500119_1500120insG	AJ276409	CCDS32.1	1p36	2010-03-24	2006-04-04		ENSG00000160075	ENSG00000160075			25016	protein-coding gene	gene with protein product			"""Ssu72 RNA polymerase II CTD phosphatase homolog (yeast)"""			15125841, 15659578	Standard	NM_014188		Approved	HSPC182	uc001agd.3	Q9NP77	OTTHUMG00000000576	ENST00000291386.3:c.224+32->C	1.37:g.1500125_1500125dupG			Somatic				SSU72_ENST00000291386.3_Intron	p.L86fs			WXS	Illumina GAIIx	Phase_I	Q9NP77	SSU72_HUMAN		Epithelial(90;5.04e-37)|OV - Ovarian serous cystadenocarcinoma(86;3.72e-23)|GBM - Glioblastoma multiforme(42;1.2e-07)|Colorectal(212;0.000188)|COAD - Colon adenocarcinoma(227;0.000214)|Kidney(185;0.00254)|STAD - Stomach adenocarcinoma(132;0.00645)|BRCA - Breast invasive adenocarcinoma(365;0.00837)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)	2	283_284	-	all_cancers(77;0.00125)|all_epithelial(69;0.000703)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.03e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	0					Q9BZS6|Q9H933	Frame_Shift_Ins	INS	ENST00000291386.3	37	c.257_258insC	CCDS32.1																																																																																				0.505	SSU72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001366.1	NM_014188		18	1797						18	1797	---	---	---	---
ERRFI1	54206	broad.mit.edu	37	1	8073803	8073804	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr1:8073803_8073804insG	ENST00000377482.5	-	4	1078_1079	c.855_856insC	c.(853-858)cccagafs	p.R286fs	ERRFI1_ENST00000467067.1_3'UTR|ERRFI1_ENST00000474874.1_Intron|ERRFI1_ENST00000469499.1_3'UTR	NM_018948.3	NP_061821.1	Q9UJM3	ERRFI_HUMAN	ERBB receptor feedback inhibitor 1	286					lung alveolus development (GO:0048286)|lung epithelium development (GO:0060428)|lung vasculature development (GO:0060426)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of protein autophosphorylation (GO:0031953)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of keratinocyte differentiation (GO:0045616)|response to stress (GO:0006950)|skin morphogenesis (GO:0043589)	cytoplasm (GO:0005737)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|Rho GTPase activator activity (GO:0005100)			breast(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(3)|ovary(1)|prostate(1)|skin(2)	16	Ovarian(185;0.06)|all_lung(157;0.151)	all_epithelial(116;1.76e-16)|all_lung(118;3.66e-05)|Lung NSC(185;0.000163)|Renal(390;0.000469)|Colorectal(325;0.0033)|Breast(348;0.0044)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.33e-70)|GBM - Glioblastoma multiforme(8;8.05e-37)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;6.9e-06)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.000985)|READ - Rectum adenocarcinoma(331;0.0642)		ATGGGAACTCTGGGGGGAACCT	0.475																																						ENST00000377482.5																			0				breast(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(3)|ovary(1)|prostate(1)|skin(2)	16						c.(853-858)ccgagtfs		ERBB receptor feedback inhibitor 1																																				SO:0001589	frameshift_variant	54206				lung alveolus development|lung epithelium development|lung vasculature development|negative regulation of epidermal growth factor receptor activity|negative regulation of protein autophosphorylation|regulation of keratinocyte differentiation|response to stress|skin morphogenesis	cytoplasm|extrinsic to internal side of plasma membrane|nucleus	protein kinase binding|Rho GTPase activator activity	g.chr1:8073803_8073804insG	BC025337	CCDS94.1	1p36.23	2008-02-05			ENSG00000116285	ENSG00000116285			18185	protein-coding gene	gene with protein product		608069				10749885, 2780291, 12226756, 11003669	Standard	NM_018948		Approved	MIG-6, GENE-33, RALT	uc001aoz.3	Q9UJM3	OTTHUMG00000001221	ENST00000377482.5:c.856dupC	1.37:g.8073809_8073809dupG	ENSP00000366702:p.Arg286fs		Somatic				ERRFI1_ENST00000474874.1_Intron|ERRFI1_ENST00000469499.1_3'UTR|ERRFI1_ENST00000467067.1_3'UTR	p.S286fs	NM_018948.3	NP_061821.1	WXS	Illumina GAIIx	Phase_I	Q9UJM3	ERRFI_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.33e-70)|GBM - Glioblastoma multiforme(8;8.05e-37)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;6.9e-06)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.000985)|READ - Rectum adenocarcinoma(331;0.0642)	4	1078_1079	-	Ovarian(185;0.06)|all_lung(157;0.151)	all_epithelial(116;1.76e-16)|all_lung(118;3.66e-05)|Lung NSC(185;0.000163)|Renal(390;0.000469)|Colorectal(325;0.0033)|Breast(348;0.0044)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)	286					B2RDX9|Q9NTG9|Q9UD05	Frame_Shift_Ins	INS	ENST00000377482.5	37	c.855_856insC	CCDS94.1																																																																																				0.475	ERRFI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000003617.1	NM_018948		8	323						8	323	---	---	---	---
ERRFI1	54206	broad.mit.edu	37	1	8074377	8074378	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr1:8074377_8074378insG	ENST00000377482.5	-	4	504_505	c.281_282insC	c.(280-282)cctfs	p.P94fs	ERRFI1_ENST00000467067.1_3'UTR|ERRFI1_ENST00000474874.1_Intron|ERRFI1_ENST00000469499.1_Frame_Shift_Ins_p.S69fs	NM_018948.3	NP_061821.1	Q9UJM3	ERRFI_HUMAN	ERBB receptor feedback inhibitor 1	94					lung alveolus development (GO:0048286)|lung epithelium development (GO:0060428)|lung vasculature development (GO:0060426)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of protein autophosphorylation (GO:0031953)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of keratinocyte differentiation (GO:0045616)|response to stress (GO:0006950)|skin morphogenesis (GO:0043589)	cytoplasm (GO:0005737)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|Rho GTPase activator activity (GO:0005100)			breast(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(3)|ovary(1)|prostate(1)|skin(2)	16	Ovarian(185;0.06)|all_lung(157;0.151)	all_epithelial(116;1.76e-16)|all_lung(118;3.66e-05)|Lung NSC(185;0.000163)|Renal(390;0.000469)|Colorectal(325;0.0033)|Breast(348;0.0044)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.33e-70)|GBM - Glioblastoma multiforme(8;8.05e-37)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;6.9e-06)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.000985)|READ - Rectum adenocarcinoma(331;0.0642)		GAATAAGAAGAGGGGGCAAGCT	0.46																																						ENST00000377482.5																			0				breast(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(3)|ovary(1)|prostate(1)|skin(2)	16						c.(280-282)cctfs		ERBB receptor feedback inhibitor 1																																				SO:0001589	frameshift_variant	54206				lung alveolus development|lung epithelium development|lung vasculature development|negative regulation of epidermal growth factor receptor activity|negative regulation of protein autophosphorylation|regulation of keratinocyte differentiation|response to stress|skin morphogenesis	cytoplasm|extrinsic to internal side of plasma membrane|nucleus	protein kinase binding|Rho GTPase activator activity	g.chr1:8074377_8074378insG	BC025337	CCDS94.1	1p36.23	2008-02-05			ENSG00000116285	ENSG00000116285			18185	protein-coding gene	gene with protein product		608069				10749885, 2780291, 12226756, 11003669	Standard	NM_018948		Approved	MIG-6, GENE-33, RALT	uc001aoz.3	Q9UJM3	OTTHUMG00000001221	ENST00000377482.5:c.282dupC	1.37:g.8074382_8074382dupG	ENSP00000366702:p.Pro94fs		Somatic				ERRFI1_ENST00000474874.1_Intron|ERRFI1_ENST00000469499.1_Frame_Shift_Ins_p.F69fs|ERRFI1_ENST00000467067.1_3'UTR	p.P94fs	NM_018948.3	NP_061821.1	WXS	Illumina GAIIx	Phase_I	Q9UJM3	ERRFI_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.33e-70)|GBM - Glioblastoma multiforme(8;8.05e-37)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;6.9e-06)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.000985)|READ - Rectum adenocarcinoma(331;0.0642)	4	504_505	-	Ovarian(185;0.06)|all_lung(157;0.151)	all_epithelial(116;1.76e-16)|all_lung(118;3.66e-05)|Lung NSC(185;0.000163)|Renal(390;0.000469)|Colorectal(325;0.0033)|Breast(348;0.0044)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)	94					B2RDX9|Q9NTG9|Q9UD05	Frame_Shift_Ins	INS	ENST00000377482.5	37	c.281_282insC	CCDS94.1																																																																																				0.460	ERRFI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000003617.1	NM_018948		7	2194						7	2194	---	---	---	---
DAB1	1600	broad.mit.edu	37	1	57491653	57491654	+	Splice_Site	INS	-	-	G	rs138352976|rs201318657		TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr1:57491653_57491654insG	ENST00000371231.1	-	11	919_920		c.e11+1		DAB1_ENST00000414851.2_Splice_Site|DAB1_ENST00000485760.1_Splice_Site|DAB1_ENST00000439789.2_Splice_Site|DAB1_ENST00000371236.2_Splice_Site|DAB1_ENST00000420954.2_Splice_Site|DAB1_ENST00000371234.4_Splice_Site			O75553	DAB1_HUMAN	Dab, reelin signal transducer, homolog 1 (Drosophila)						adult walking behavior (GO:0007628)|cell-cell adhesion involved in neuronal-glial interactions involved in cerebral cortex radial glia guided migration (GO:0021813)|cerebellum structural organization (GO:0021589)|dendrite development (GO:0016358)|Golgi localization (GO:0051645)|lateral motor column neuron migration (GO:0097477)|midgut development (GO:0007494)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell adhesion (GO:0007162)|negative regulation of JAK-STAT cascade (GO:0046426)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein kinase activity (GO:0045860)|radial glia guided migration of Purkinje cell (GO:0021942)|response to drug (GO:0042493)|small GTPase mediated signal transduction (GO:0007264)|ventral spinal cord development (GO:0021517)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytosol (GO:0005829)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						TGCATACTTACGGGGGGAGAGG	0.465																																						ENST00000371236.2																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						c.e10+1		Dab, reelin signal transducer, homolog 1 (Drosophila)																																				SO:0001630	splice_region_variant	1600				cell differentiation|nervous system development			g.chr1:57491653_57491654insG	BC067445	CCDS607.1	1p32-p31	2013-10-03	2013-10-03		ENSG00000173406	ENSG00000173406			2661	protein-coding gene	gene with protein product		603448	"""disabled (Drosophila) homolog 1"", ""disabled homolog 1 (Drosophila)"", ""Dab, reelin signal transducer, homolog 1 (Drosophila)"", ""Dab reelin signal transducer 1"""			9790777	Standard	NM_021080		Approved		uc001cys.1	O75553	OTTHUMG00000008391	ENST00000371231.1:c.885+1->C	1.37:g.57491659_57491659dupG			Somatic				DAB1_ENST00000414851.2_Splice_Site|DAB1_ENST00000420954.2_Splice_Site|DAB1_ENST00000371231.1_Splice_Site|DAB1_ENST00000439789.2_Splice_Site|DAB1_ENST00000371234.4_Splice_Site|DAB1_ENST00000485760.1_Splice_Site				WXS	Illumina GAIIx	Phase_I	O75553	DAB1_HUMAN			10	1049_1050	-								A4FU90|B3KTG3|Q4LE59|Q5T6M6|Q5T6M9|Q5T835|Q5T836|Q5T837|Q6NWS9|Q6NWT0|Q6NWT1|Q9NYA8	Splice_Site	INS	ENST00000371231.1	37																																																																																						0.465	DAB1-010	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000027962.1	NM_021080	Intron	9	511						9	511	---	---	---	---
LOC149351	149351	broad.mit.edu	37	1	91252142	91252143	+	lincRNA	DEL	AG	AG	-			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr1:91252142_91252143delAG	ENST00000435649.2	-	0	390																											ttcaagaggcagagagagagag	0.446																																						ENST00000435649.2																			0																																																			149351							g.chr1:91252142_91252143delAG																													1.37:g.91252152_91252153delAG			Somatic								WXS	Illumina GAIIx	Phase_I					0	390	-									RNA	DEL	ENST00000435649.2	37																																																																																						0.446	RP4-665J23.1-004	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000470185.1			2	4						2	4	---	---	---	---
KIF21B	23046	broad.mit.edu	37	1	200956270	200956271	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr1:200956270_200956271insG	ENST00000422435.2	-	25	3783_3784	c.3467_3468insC	c.(3466-3468)ccafs	p.P1156fs	KIF21B_ENST00000332129.2_Frame_Shift_Ins_p.P1156fs|KIF21B_ENST00000461742.2_Frame_Shift_Ins_p.P1156fs|KIF21B_ENST00000360529.5_Frame_Shift_Ins_p.P1156fs	NM_001252100.1	NP_001239029.1	O75037	KI21B_HUMAN	kinesin family member 21B	1156					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						AGATATCCAGTGGGGGGCCCAG	0.559																																						ENST00000332129.2																			0				autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						c.(3466-3468)cctfs		kinesin family member 21B																																				SO:0001589	frameshift_variant	23046				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr1:200956270_200956271insG	BC031927	CCDS30965.1, CCDS58054.1, CCDS58055.1, CCDS58056.1	1q32.1	2013-01-10			ENSG00000116852	ENSG00000116852		"""Kinesins"", ""WD repeat domain containing"""	29442	protein-coding gene	gene with protein product		608322				9455484	Standard	NM_001252100		Approved	DKFZP434J212, KIAA0449	uc001gvs.2	O75037	OTTHUMG00000035787	ENST00000422435.2:c.3468dupC	1.37:g.200956276_200956276dupG	ENSP00000411831:p.Pro1156fs		Somatic				KIF21B_ENST00000422435.2_Frame_Shift_Ins_p.P1156fs|KIF21B_ENST00000360529.5_Frame_Shift_Ins_p.P1156fs|KIF21B_ENST00000461742.2_Frame_Shift_Ins_p.P1156fs	p.P1156fs	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	WXS	Illumina GAIIx	Phase_I	O75037	KI21B_HUMAN			25	3783_3784	-			1156					B2RP62|B7ZMI0|Q5T4J3	Frame_Shift_Ins	INS	ENST00000422435.2	37	c.3467_3468insC	CCDS58056.1																																																																																				0.559	KIF21B-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382635.1	XM_371332		40	1919						40	1919	---	---	---	---
PAPOLG	64895	broad.mit.edu	37	2	61021134	61021135	+	Frame_Shift_Ins	INS	-	-	C	rs140373990		TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr2:61021134_61021135insC	ENST00000238714.3	+	19	2046_2047	c.1797_1798insC	c.(1798-1800)cccfs	p.P600fs		NM_022894.3	NP_075045.2	Q9BWT3	PAPOG_HUMAN	poly(A) polymerase gamma	600					mRNA polyadenylation (GO:0006378)|RNA polyadenylation (GO:0043631)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|polynucleotide adenylyltransferase activity (GO:0004652)|RNA binding (GO:0003723)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	35	all_hematologic(2;0.0797)		LUSC - Lung squamous cell carcinoma(5;1.19e-07)|Lung(5;2.86e-06)|Epithelial(17;0.0768)			AAACTGTATCACCCCCCACTGT	0.401																																					GBM(183;1497 2932 21839 46797)	ENST00000238714.3																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	35						c.(1795-1800)tcccccfs		poly(A) polymerase gamma																																				SO:0001589	frameshift_variant	64895				mRNA processing|RNA polyadenylation|transcription, DNA-dependent	nucleus	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding	g.chr2:61021134_61021135insC	AC012498	CCDS1863.1	2p16.1	2008-02-08			ENSG00000115421	ENSG00000115421	2.7.7.19		14982	protein-coding gene	gene with protein product							Standard	NM_022894		Approved	FLJ12972	uc002sai.3	Q9BWT3	OTTHUMG00000129419	ENST00000238714.3:c.1803dupC	2.37:g.61021140_61021140dupC	ENSP00000238714:p.Pro600fs		Somatic					p.SP599fs	NM_022894.3	NP_075045.2	WXS	Illumina GAIIx	Phase_I	Q9BWT3	PAPOG_HUMAN	LUSC - Lung squamous cell carcinoma(5;1.19e-07)|Lung(5;2.86e-06)|Epithelial(17;0.0768)		19	2046_2047	+	all_hematologic(2;0.0797)		599					B2RBH4|Q59G05|Q969N1|Q9H8L2|Q9HAD0	Frame_Shift_Ins	INS	ENST00000238714.3	37	c.1797_1798insC	CCDS1863.1																																																																																				0.401	PAPOLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251577.3	NM_022894		8	210						8	210	---	---	---	---
SCN1A	6323	broad.mit.edu	37	2	166903319	166903321	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr2:166903319_166903321delCTG	ENST00000303395.4	-	9	1335_1337	c.1336_1338delCAG	c.(1336-1338)cagdel	p.Q446del	SCN1A_ENST00000423058.2_In_Frame_Del_p.Q446del|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000375405.3_In_Frame_Del_p.Q446del|AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000409050.1_In_Frame_Del_p.Q446del			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	446					adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GTTCAATCATCTGCTGAAATTCG	0.458																																						ENST00000423058.2																			0				NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200						c.(1336-1338)del		sodium channel, voltage-gated, type I, alpha subunit	Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)																																			SO:0001651	inframe_deletion	6323					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166903319_166903321delCTG	AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10585	protein-coding gene	gene with protein product		182389	"""febrile convulsions 3"""	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.1336_1338delCAG	2.37:g.166903322_166903324delCTG	ENSP00000303540:p.Gln446del		Somatic				SCN1A_ENST00000409050.1_In_Frame_Del_p.Q446del|AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000375405.3_In_Frame_Del_p.Q446del|SCN1A_ENST00000303395.4_In_Frame_Del_p.Q446del|AC010127.3_ENST00000595268.1_RNA	p.Q446del	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	WXS	Illumina GAIIx	Phase_I	P35498	SCN1A_HUMAN			9	1353_1355	-			446					E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	In_Frame_Del	DEL	ENST00000303395.4	37	c.1336_1338delCAG	CCDS54413.1																																																																																				0.458	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	NM_006920		45	69						45	69	---	---	---	---
ZFYVE20	64145	broad.mit.edu	37	3	15115298	15115299	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr3:15115298_15115299insC	ENST00000253699.3	-	14	2958_2959	c.2345_2346insG	c.(2344-2346)ggcfs	p.G782fs	ZFYVE20_ENST00000476527.2_Frame_Shift_Ins_p.G782fs	NM_022340.2	NP_071735.2	Q9H1K0	RBNS5_HUMAN	zinc finger, FYVE domain containing 20	782	Necessary for the interaction with EHD1.|Necessary for the interaction with RAB5A.				blood coagulation (GO:0007596)|endosomal transport (GO:0016197)|protein transport (GO:0015031)	endosome (GO:0005768)|endosome membrane (GO:0010008)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			NS(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|skin(3)|stomach(1)|urinary_tract(2)	26						GTCAGTCAGTGCCCCCCTTCTG	0.624																																						ENST00000253699.3																			0				NS(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|skin(3)|stomach(1)|urinary_tract(2)	26						c.(2344-2346)gacfs		zinc finger, FYVE domain containing 20																																				SO:0001589	frameshift_variant	64145				blood coagulation|endosome transport|protein transport	early endosome membrane|plasma membrane	protein binding|zinc ion binding	g.chr3:15115298_15115299insC	AY009133	CCDS2623.1	3p25.1	2014-01-15			ENSG00000131381	ENSG00000131381		"""Zinc fingers, FYVE domain containing"""	20759	protein-coding gene	gene with protein product		609511				11062261	Standard	XR_427283		Approved	Rabenosyn-5	uc003bzm.1	Q9H1K0	OTTHUMG00000129860	ENST00000253699.3:c.2346dupG	3.37:g.15115304_15115304dupC	ENSP00000253699:p.Gly782fs		Somatic				ZFYVE20_ENST00000476527.2_Frame_Shift_Ins_p.D782fs	p.D782fs	NM_022340.2	NP_071735.2	WXS	Illumina GAIIx	Phase_I	Q9H1K0	RBNS5_HUMAN			14	2958_2959	-			782			Necessary for the interaction with EHD1.|Necessary for the interaction with RAB5A.		B4DWY8|C9J4P5|Q3KP30|Q59EY8|Q8NAQ1	Frame_Shift_Ins	INS	ENST00000253699.3	37	c.2345_2346insG	CCDS2623.1																																																																																				0.624	ZFYVE20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252102.2	NM_022340		8	385						8	385	---	---	---	---
TRANK1	9881	broad.mit.edu	37	3	36876345	36876345	+	Frame_Shift_Del	DEL	G	G	-			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr3:36876345delG	ENST00000429976.2	-	20	5686	c.5439delC	c.(5437-5439)ttcfs	p.F1813fs	TRANK1_ENST00000428977.2_Frame_Shift_Del_p.F1263fs|TRANK1_ENST00000301807.6_Frame_Shift_Del_p.F1263fs	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	1813							ATP binding (GO:0005524)|hydrolase activity (GO:0016787)			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						CAAAGCATCTGAAAGCGTCTT	0.388																																						ENST00000429976.2																			0				NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						c.(5437-5439)ttfs		tetratricopeptide repeat and ankyrin repeat containing 1							101.0	100.0	100.0					3																	36876345		1870	4099	5969	SO:0001589	frameshift_variant	9881				DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr3:36876345delG	AK096678	CCDS46789.1, CCDS46789.2	3p22.2	2013-01-11			ENSG00000168016	ENSG00000168016		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29011	protein-coding gene	gene with protein product	"""lupus brain antigen 1"", ""KIAA0342"""					9205841	Standard	NM_014831		Approved	LBA1, KIAA0342	uc003cgj.3	O15050	OTTHUMG00000155848	ENST00000429976.2:c.5439delC	3.37:g.36876345delG	ENSP00000416168:p.Phe1813fs		Somatic				TRANK1_ENST00000428977.2_Frame_Shift_Del_p.F1263fs|TRANK1_ENST00000301807.6_Frame_Shift_Del_p.F1263fs	p.F1813fs			WXS	Illumina GAIIx	Phase_I	O15050	TRNK1_HUMAN			20	5686	-			1813					Q8N8K0	Frame_Shift_Del	DEL	ENST00000429976.2	37	c.5439delC	CCDS46789.2																																																																																				0.388	TRANK1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014831		25	95						25	95	---	---	---	---
TF	7018	broad.mit.edu	37	3	133476713	133476714	+	Frame_Shift_Ins	INS	-	-	C	rs148358704		TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr3:133476713_133476714insC	ENST00000402696.3	+	8	1456_1457	c.971_972insC	c.(970-975)gtccccfs	p.VP324fs	TF_ENST00000264998.3_Frame_Shift_Ins_p.VP197fs	NM_001063.3	NP_001054	P02787	TRFE_HUMAN	transferrin	324	Transferrin-like 1. {ECO:0000255|PROSITE- ProRule:PRU00741}.				blood coagulation (GO:0007596)|cellular iron ion homeostasis (GO:0006879)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|retina homeostasis (GO:0001895)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basal part of cell (GO:0045178)|basal plasma membrane (GO:0009925)|blood microparticle (GO:0072562)|cell surface (GO:0009986)|coated pit (GO:0005905)|cytoplasmic membrane-bounded vesicle (GO:0016023)|early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|secretory granule lumen (GO:0034774)|vesicle (GO:0031982)	ferric iron binding (GO:0008199)			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49					Aluminium(DB01370)|Bismuth Subsalicylate(DB01294)|Gallium nitrate(DB05260)|Iron Dextran(DB00893)	TTTTTAAAAGTCCCCCCCAGGA	0.485																																						ENST00000402696.3																			0				NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						c.(970-972)gccfs		transferrin	Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893)																																			SO:0001589	frameshift_variant	7018				cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport	apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule	ferric iron binding	g.chr3:133476713_133476714insC		CCDS3080.1	3q21	2012-10-02			ENSG00000091513	ENSG00000091513			11740	protein-coding gene	gene with protein product		190000				6585826	Standard	NM_001063		Approved	PRO1557, PRO2086	uc003epv.2	P02787	OTTHUMG00000150356	ENST00000402696.3:c.978dupC	3.37:g.133476720_133476720dupC	ENSP00000385834:p.Val324fs		Somatic				TF_ENST00000264998.3_Frame_Shift_Ins_p.A197fs	p.A324fs	NM_001063.3	NP_001054.1	WXS	Illumina GAIIx	Phase_I	P02787	TRFE_HUMAN			8	1456_1457	+			324			Transferrin-like 1.		O43890|Q1HBA5|Q9NQB8|Q9UHV0	Frame_Shift_Ins	INS	ENST00000402696.3	37	c.971_972insC	CCDS3080.1																																																																																				0.485	TF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317775.1	NM_001063		7	174						7	174	---	---	---	---
PDZD2	23037	broad.mit.edu	37	5	31995791	31995797	+	Frame_Shift_Del	DEL	TCACTCA	TCACTCA	-			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr5:31995791_31995797delTCACTCA	ENST00000438447.1	+	4	1476_1482	c.1088_1094delTCACTCA	c.(1087-1095)gtcactcaafs	p.VTQ363fs	PDZD2_ENST00000282493.3_Frame_Shift_Del_p.VTQ363fs			O15018	PDZD2_HUMAN	PDZ domain containing 2	363	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						GCTATCGTTGTCACTCAAGTGAAGGAA	0.57																																						ENST00000438447.1																			0				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						c.(1087-1095)gafs		PDZ domain containing 2																																				SO:0001589	frameshift_variant	23037				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		g.chr5:31995791_31995797delTCACTCA	AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"""PDZ domain containing 3"""	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.1088_1094delTCACTCA	5.37:g.31995791_31995797delTCACTCA	ENSP00000402033:p.Val363fs		Somatic				PDZD2_ENST00000282493.3_Frame_Shift_Del_p.VTQ363fs	p.VTQ363fs			WXS	Illumina GAIIx	Phase_I	O15018	PDZD2_HUMAN			4	1476_1482	+			363			PDZ 2.		Q9BXD4	Frame_Shift_Del	DEL	ENST00000438447.1	37	c.1088_1094delTCACTCA	CCDS34137.1																																																																																				0.570	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1			134	187						134	187	---	---	---	---
SLC6A7	6534	broad.mit.edu	37	5	149580754	149580755	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr5:149580754_149580755insC	ENST00000230671.2	+	6	1197_1198	c.826_827insC	c.(826-828)accfs	p.T276fs	SLC6A7_ENST00000524041.1_Frame_Shift_Ins_p.T276fs	NM_014228.3	NP_055043.2	Q99884	SC6A7_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 7	276					proline transport (GO:0015824)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)|stomach(1)	16		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Proline(DB00172)	GTTCTATCTCACCCCCCAGTTC	0.634																																						ENST00000230671.2																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)|stomach(1)	16						c.(826-828)cccfs		solute carrier family 6 (neurotransmitter transporter), member 7	L-Proline(DB00172)																																			SO:0001589	frameshift_variant	6534					integral to plasma membrane|membrane fraction	neurotransmitter:sodium symporter activity|proline:sodium symporter activity	g.chr5:149580754_149580755insC	S80071	CCDS4305.1	5q32	2013-07-19	2013-07-19		ENSG00000011083	ENSG00000011083		"""Solute carriers"""	11054	protein-coding gene	gene with protein product	"""brain-specific L-proline transporter"", ""sodium-dependent proline transporter"""	606205	"""solute carrier family 6 (neurotransmitter transporter, L-proline), member 7"""			7651355	Standard	NM_014228		Approved	PROT	uc003lrr.3	Q99884	OTTHUMG00000130046	ENST00000230671.2:c.832dupC	5.37:g.149580760_149580760dupC	ENSP00000230671:p.Thr276fs		Somatic				SLC6A7_ENST00000524041.1_Frame_Shift_Ins_p.P276fs	p.P276fs	NM_014228.3	NP_055043.2	WXS	Illumina GAIIx	Phase_I	Q99884	SC6A7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		6	1197_1198	+		all_hematologic(541;0.224)	276					Q0VG81|Q52LU6	Frame_Shift_Ins	INS	ENST00000230671.2	37	c.826_827insC	CCDS4305.1																																																																																				0.634	SLC6A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252325.1	NM_014228		9	213						9	213	---	---	---	---
CPA1	1357	broad.mit.edu	37	7	130023239	130023240	+	Frame_Shift_Ins	INS	-	-	G	rs369058363		TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr7:130023239_130023240insG	ENST00000011292.3	+	5	641_642	c.491_492insG	c.(490-495)acggggfs	p.TG164fs	CPA1_ENST00000484324.1_Frame_Shift_Ins_p.TG76fs	NM_001868.2	NP_001859.1	P15085	CBPA1_HUMAN	carboxypeptidase A1 (pancreatic)	164					proteolysis (GO:0006508)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)	21	Melanoma(18;0.0435)					CAGTTCAGCACGGGGGGCAGTA	0.614																																						ENST00000011292.3																			0				endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)	21						c.(490-492)aggfs		carboxypeptidase A1 (pancreatic)																																				SO:0001589	frameshift_variant	1357				proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding	g.chr7:130023239_130023240insG		CCDS5820.1	7q32	2012-02-10			ENSG00000091704	ENSG00000091704	3.4.17.1		2296	protein-coding gene	gene with protein product	"""pancreatic carboxypeptidase A"""	114850		CPA			Standard	NM_001868		Approved		uc003vpx.3	P15085	OTTHUMG00000157826	ENST00000011292.3:c.497dupG	7.37:g.130023245_130023245dupG	ENSP00000011292:p.Thr164fs		Somatic				CPA1_ENST00000484324.1_Frame_Shift_Ins_p.R76fs	p.R164fs	NM_001868.2	NP_001859.1	WXS	Illumina GAIIx	Phase_I	P15085	CBPA1_HUMAN			5	641_642	+	Melanoma(18;0.0435)		164					A4D1M1|Q53XU0|Q9BS67|Q9UCF2	Frame_Shift_Ins	INS	ENST00000011292.3	37	c.491_492insG	CCDS5820.1																																																																																				0.614	CPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349736.2	NM_001868		8	215						8	215	---	---	---	---
KDM7A	80853	broad.mit.edu	37	7	139820279	139820280	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr7:139820279_139820280insC	ENST00000397560.2	-	8	1198_1199	c.1101_1102insG	c.(1099-1104)gggaacfs	p.N368fs	JHDM1D_ENST00000006967.5_Frame_Shift_Ins_p.N368fs	NM_030647.1	NP_085150.1	Q6ZMT4	KDM7A_HUMAN		368	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				histone H3-K27 demethylation (GO:0071557)|histone H3-K36 demethylation (GO:0070544)|histone H3-K9 demethylation (GO:0033169)|histone H4-K20 demethylation (GO:0035574)|midbrain development (GO:0030901)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleus (GO:0005634)	histone demethylase activity (H3-K27 specific) (GO:0071558)|histone demethylase activity (H3-K36 specific) (GO:0051864)|histone demethylase activity (H3-K9 specific) (GO:0032454)|histone demethylase activity (H4-K20 specific) (GO:0035575)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)	22	Melanoma(164;0.0142)					TGCAGGAAGTTCCCCCCAAAAG	0.356																																						ENST00000397560.2																			0				central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)	22						c.(1099-1104)ggacttfs																																						SO:0001589	frameshift_variant	80853				midbrain development|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	g.chr7:139820279_139820280insC																												ENST00000397560.2:c.1102dupG	7.37:g.139820285_139820285dupC	ENSP00000380692:p.Asn368fs		Somatic				JHDM1D_ENST00000006967.5_Frame_Shift_Ins_p.L368fs	p.L368fs	NM_030647.1	NP_085150.1	WXS	Illumina GAIIx	Phase_I	Q6ZMT4	KDM7_HUMAN			8	1198_1199	-	Melanoma(164;0.0142)		368			JmjC.		A4D1S9|C9JJH9|C9JQU2|Q6MZL8|Q9C0E5	Frame_Shift_Ins	INS	ENST00000397560.2	37	c.1101_1102insG	CCDS43658.1																																																																																				0.356	JHDM1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348460.1			8	227						8	227	---	---	---	---
BNC2	54796	broad.mit.edu	37	9	16436374	16436375	+	Frame_Shift_Ins	INS	-	-	G	rs116528562|rs142872531	byFrequency	TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr9:16436374_16436375insG	ENST00000380672.4	-	6	1874_1875	c.1817_1818insC	c.(1816-1818)ccgfs	p.P606fs	BNC2_ENST00000545497.1_Frame_Shift_Ins_p.P511fs|BNC2_ENST00000380666.2_Frame_Shift_Ins_p.P606fs|BNC2_ENST00000380667.2_Frame_Shift_Ins_p.P539fs	NM_017637.5	NP_060107.3			basonuclin 2											NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		CAGAGGGTGGCGGGGGGTGCTG	0.564																																						ENST00000380672.4																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60						c.(1816-1818)cccfs		basonuclin 2																																				SO:0001589	frameshift_variant	54796				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding	g.chr9:16436374_16436375insG	AK092247	CCDS6482.2	9p22.2	2013-05-20			ENSG00000173068	ENSG00000173068		"""Zinc fingers, C2H2-type"""	30988	protein-coding gene	gene with protein product		608669				14702039	Standard	XM_006716784		Approved	BSN2, FLJ20043	uc003zml.3	Q6ZN30	OTTHUMG00000019593	ENST00000380672.4:c.1818dupC	9.37:g.16436380_16436380dupG	ENSP00000370047:p.Pro606fs		Somatic				BNC2_ENST00000380666.2_Frame_Shift_Ins_p.P606fs|BNC2_ENST00000545497.1_Frame_Shift_Ins_p.P511fs|BNC2_ENST00000380667.2_Frame_Shift_Ins_p.P539fs	p.P606fs	NM_017637.5	NP_060107.3	WXS	Illumina GAIIx	Phase_I	Q6ZN30	BNC2_HUMAN		GBM - Glioblastoma multiforme(50;9.01e-08)	6	1874_1875	-			606			Pro-rich.			Frame_Shift_Ins	INS	ENST00000380672.4	37	c.1817_1818insC	CCDS6482.2																																																																																				0.564	BNC2-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216901.5	NM_017637		11	380						11	380	---	---	---	---
ZNF462	58499	broad.mit.edu	37	9	109691601	109691602	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr9:109691601_109691602insG	ENST00000277225.5	+	3	5697_5698	c.5408_5409insG	c.(5407-5412)ttggggfs	p.LG1803fs	ZNF462_ENST00000441147.2_Frame_Shift_Ins_p.LG648fs|ZNF462_ENST00000457913.1_Frame_Shift_Ins_p.LG1803fs			Q96JM2	ZN462_HUMAN	zinc finger protein 462	1803					chromatin organization (GO:0006325)|negative regulation of DNA binding (GO:0043392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						GCCAGCAAGTTGGGGGGCTACT	0.55																																						ENST00000277225.5																			0				NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						c.(5407-5409)tggfs		zinc finger protein 462																																				SO:0001589	frameshift_variant	58499				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:109691601_109691602insG	AB058706	CCDS35096.1	9q31.3	2008-02-05			ENSG00000148143	ENSG00000148143		"""Zinc fingers, C2H2-type"""	21684	protein-coding gene	gene with protein product							Standard	NM_021224		Approved	DKFZP762N2316, KIAA1803, Zfp462	uc004bcz.3	Q96JM2	OTTHUMG00000020438	ENST00000277225.5:c.5414dupG	9.37:g.109691607_109691607dupG	ENSP00000277225:p.Leu1803fs		Somatic				ZNF462_ENST00000441147.2_Frame_Shift_Ins_p.W648fs|ZNF462_ENST00000457913.1_Frame_Shift_Ins_p.W1803fs	p.W1803fs			WXS	Illumina GAIIx	Phase_I	Q96JM2	ZN462_HUMAN			3	5697_5698	+			1803					Q5T0T4|Q8N408	Frame_Shift_Ins	INS	ENST00000277225.5	37	c.5408_5409insG	CCDS35096.1																																																																																				0.550	ZNF462-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053532.2	NM_021224		8	173						8	173	---	---	---	---
SEC16A	9919	broad.mit.edu	37	9	139345822	139345823	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr9:139345822_139345823insG	ENST00000371706.3	-	21	5696_5697	c.5663_5664insC	c.(5662-5664)ccafs	p.P1888fs	SEC16A_ENST00000313084.5_5'Flank|SEC16A_ENST00000290037.6_Frame_Shift_Ins_p.P1888fs|SEC16A_ENST00000313050.7_Frame_Shift_Ins_p.P2066fs|SEC16A_ENST00000398335.1_5'Flank|SEC16A_ENST00000431893.2_Frame_Shift_Ins_p.P1888fs			O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	1888	Pro-rich.				COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|protein transport (GO:0015031)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		GATCCCACCCTGGGGGGGCCTC	0.629																																						ENST00000313050.7																			0				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(6196-6198)cggfs		SEC16 homolog A (S. cerevisiae)																																				SO:0001589	frameshift_variant	9919				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane		g.chr9:139345822_139345823insG	AK074565	CCDS55351.1, CCDS75936.1	9q34.3	2007-06-20	2007-06-20	2007-06-20	ENSG00000148396	ENSG00000148396			29006	protein-coding gene	gene with protein product		612854	"""KIAA0310"""	KIAA0310		9205841	Standard	NM_014866		Approved	p250	uc004chx.3	O15027	OTTHUMG00000020932	ENST00000371706.3:c.5664dupC	9.37:g.139345829_139345829dupG	ENSP00000360771:p.Pro1888fs		Somatic				SEC16A_ENST00000371706.3_Frame_Shift_Ins_p.R1888fs|SEC16A_ENST00000431893.2_Frame_Shift_Ins_p.R1888fs|SEC16A_ENST00000290037.6_Frame_Shift_Ins_p.R1888fs	p.R2066fs	NM_014866.1	NP_055681.1	WXS	Illumina GAIIx	Phase_I	O15027	SC16A_HUMAN		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)	21	6270_6271	-		Myeloproliferative disorder(178;0.0511)	1888			Pro-rich.|Required for interaction with SEC23A.		A1YCA4|Q4G0D7|Q5SXP0|Q5SXP1|Q8N347|Q96HP1	Frame_Shift_Ins	INS	ENST00000371706.3	37	c.6197_6198insC																																																																																					0.629	SEC16A-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000055077.1	XM_088459		7	32						7	32	---	---	---	---
DLG2	1740	broad.mit.edu	37	11	84027990	84027991	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr11:84027990_84027991insC	ENST00000398301.2	-	1	391_392	c.198_199insG	c.(196-201)gggtccfs	p.S67fs	DLG2_ENST00000532653.1_Intron|DLG2_ENST00000280241.8_Frame_Shift_Ins_p.S67fs|DLG2_ENST00000398309.2_Intron|DLG2_ENST00000543673.1_Intron|DLG2_ENST00000376104.2_Intron|DLG2_ENST00000524982.1_Intron			Q14168	MPP2_HUMAN	discs, large homolog 2 (Drosophila)	0					nucleotide phosphorylation (GO:0046939)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	guanylate kinase activity (GO:0004385)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				TTGAAGCTGGACCCCCCGGTCC	0.609																																						ENST00000280241.8																			0				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71						c.(196-201)ggccagfs		discs, large homolog 2 (Drosophila)																																				SO:0001589	frameshift_variant	1740					cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding	g.chr11:84027990_84027991insC	U32376	CCDS41696.1, CCDS44690.1, CCDS44691.1, CCDS44692.1, CCDS55782.1, CCDS73357.1	11q21	2012-04-17	2008-12-15		ENSG00000150672	ENSG00000150672		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	2901	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 58"""	603583	"""discs, large homolog 2, chapsyn-110 (Drosophila)"""			8755482, 9806853	Standard	NM_001142702		Approved	PSD-93, PSD93, chapsyn-110, PPP1R58	uc001pak.2	Q15700	OTTHUMG00000134309	ENST00000398301.2:c.199dupG	11.37:g.84027996_84027996dupC	ENSP00000381346:p.Ser67fs		Somatic				DLG2_ENST00000398309.2_Intron|DLG2_ENST00000532653.1_Intron|DLG2_ENST00000543673.1_Intron|DLG2_ENST00000398301.2_Frame_Shift_Ins_p.Q67fs|DLG2_ENST00000524982.1_Intron|DLG2_ENST00000376104.2_Intron	p.Q67fs	NM_001206769.1	NP_001193698.1	WXS	Illumina GAIIx	Phase_I	Q15700	DLG2_HUMAN			1	197_198	-		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)	0					B4DGE9|B4DRJ0|B7Z3G8|E7EV80|E7EV91|E7EX01|Q53ES9|Q5CZB9|Q9BQJ2	Frame_Shift_Ins	INS	ENST00000398301.2	37	c.198_199insG																																																																																					0.609	DLG2-002	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000259244.2	NM_001364		8	392						8	392	---	---	---	---
SRSF8	10929	broad.mit.edu	37	11	94801196	94801197	+	RNA	INS	-	-	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr11:94801196_94801197insC	ENST00000529911.1	+	0	836_837					NM_032102.3	NP_115285.1	Q9BRL6	SRSF8_HUMAN	serine/arginine-rich splicing factor 8						mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)										GATCCAAGAGGCCCCCCAAGTC	0.535																																						ENST00000529911.1																			0													serine/arginine-rich splicing factor 8																																						10929				mRNA processing|RNA splicing	nucleus	nucleotide binding|RNA binding	g.chr11:94801196_94801197insC	AF031166	CCDS73370.1	11q21	2014-05-06	2010-06-22	2010-06-22	ENSG00000180771	ENSG00000263465		"""Serine/arginine-rich splicing factors"""	16988	protein-coding gene	gene with protein product	"""SR splicing factor 8"""	603269	"""splicing factor, arginine/serine-rich 2B"""	SFRS2B		9671500, 20516191	Standard	NM_032102		Approved	SRP46	uc001pff.3	Q9BRL6	OTTHUMG00000188534		11.37:g.94801202_94801202dupC			Somatic						NM_032102.3	NP_115285.1	WXS	Illumina GAIIx	Phase_I	Q9BRL6	SRSF8_HUMAN			0	836_837	+								B2R6B8|Q6PF01|Q96TA3	RNA	INS	ENST00000529911.1	37																																																																																						0.535	SRSF8-002	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000390962.3	NM_032102		7	97						7	97	---	---	---	---
CHD4	1108	broad.mit.edu	37	12	6701671	6701672	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr12:6701671_6701672insT	ENST00000357008.2	-	19	2998_2999	c.2835_2836insA	c.(2833-2838)aaactgfs	p.L946fs	CHD4_ENST00000544040.1_Frame_Shift_Ins_p.L939fs|CHD4_ENST00000544484.1_Frame_Shift_Ins_p.L943fs|CHD4_ENST00000309577.6_Frame_Shift_Ins_p.L946fs	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	946					ATP-dependent chromatin remodeling (GO:0043044)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spindle assembly (GO:0051225)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|RNA polymerase II repressing transcription factor binding (GO:0001103)|zinc ion binding (GO:0008270)			central_nervous_system(2)	2						ATGTCATGCAGTTTTTTTATCT	0.46																																					Colon(32;586 792 4568 16848 45314)	ENST00000309577.6																			0				central_nervous_system(2)	2						c.(2833-2838)aatgcafs		chromodomain helicase DNA binding protein 4																																				SO:0001589	frameshift_variant	1108				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding	g.chr12:6701671_6701672insT	X86691	CCDS8552.1	12p13	2013-01-28				ENSG00000111642		"""Zinc fingers, PHD-type"""	1919	protein-coding gene	gene with protein product		603277				7575689, 8843877	Standard	XM_006718958		Approved	Mi-2b, Mi2-BETA	uc001qpo.3	Q14839		ENST00000357008.2:c.2836dupA	12.37:g.6701678_6701678dupT	ENSP00000349508:p.Leu946fs		Somatic				CHD4_ENST00000544484.1_Frame_Shift_Ins_p.NA942fs|CHD4_ENST00000544040.1_Frame_Shift_Ins_p.NA938fs|CHD4_ENST00000357008.2_Frame_Shift_Ins_p.NA945fs	p.NA945fs			WXS	Illumina GAIIx	Phase_I	Q14839	CHD4_HUMAN			19	2998_2999	-			945					Q8IXZ5	Frame_Shift_Ins	INS	ENST00000357008.2	37	c.2835_2836insA	CCDS8552.1																																																																																				0.460	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001273		7	695						7	695	---	---	---	---
MFSD5	84975	broad.mit.edu	37	12	53647283	53647284	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr12:53647283_53647284insG	ENST00000329548.4	+	2	855_856	c.664_665insG	c.(664-666)tggfs	p.W222fs	MFSD5_ENST00000534842.1_Frame_Shift_Ins_p.W329fs	NM_032889.4	NP_116278.3	Q6N075	MFSD5_HUMAN	major facilitator superfamily domain containing 5	222					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|skin(3)|urinary_tract(1)	16						CCTTCGAAACTGGGGGGAGAAC	0.653																																						ENST00000534842.1																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|skin(3)|urinary_tract(1)	16						c.(985-987)gggfs		major facilitator superfamily domain containing 5																																				SO:0001589	frameshift_variant	84975				transport	integral to membrane		g.chr12:53647283_53647284insG	AK097576	CCDS8851.1, CCDS53796.1	12q13.13	2012-03-09			ENSG00000182544	ENSG00000182544			28156	protein-coding gene	gene with protein product							Standard	NM_032889		Approved	MGC11308	uc001sch.2	Q6N075	OTTHUMG00000170028	ENST00000329548.4:c.670dupG	12.37:g.53647289_53647289dupG	ENSP00000332624:p.Trp222fs		Somatic				MFSD5_ENST00000329548.4_Frame_Shift_Ins_p.G222fs	p.G329fs	NM_001170790.1	NP_001164261.1	WXS	Illumina GAIIx	Phase_I	Q6N075	MFSD5_HUMAN			2	1132_1133	+			222					G3V1N7|Q6NW04|Q8N7W8|Q8NCK0|Q96IA5	Frame_Shift_Ins	INS	ENST00000329548.4	37	c.985_986insG	CCDS8851.1																																																																																				0.653	MFSD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406896.1	NM_032889		8	179						8	179	---	---	---	---
REC8	9985	broad.mit.edu	37	14	24642563	24642564	+	Frame_Shift_Ins	INS	-	-	T	rs148175635		TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr14:24642563_24642564insT	ENST00000311457.3	+	6	1004_1005	c.405_406insT	c.(406-408)tttfs	p.F136fs	REC8_ENST00000559919.1_Frame_Shift_Ins_p.F136fs			O95072	REC8_HUMAN	REC8 meiotic recombination protein	136					double-strand break repair via homologous recombination (GO:0000724)|fertilization (GO:0009566)|linear element assembly (GO:0030999)|male meiosis I (GO:0007141)|meiotic nuclear division (GO:0007126)|oocyte maturation (GO:0001556)|reciprocal meiotic recombination (GO:0007131)|seminiferous tubule development (GO:0072520)|sister chromatid cohesion (GO:0007062)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)	condensed nuclear chromosome kinetochore (GO:0000778)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|nuclear meiotic cohesin complex (GO:0034991)|nucleus (GO:0005634)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15				GBM - Glioblastoma multiforme(265;0.00839)		CTCCAGATCCCTTTTTTGGGAT	0.53																																					NSCLC(139;1764 2537 12868 49041)	ENST00000311457.3																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15						c.(403-408)ccttttfs		REC8 meiotic recombination protein																																				SO:0001589	frameshift_variant	9985				mitotic metaphase/anaphase transition|mitotic prometaphase|reciprocal meiotic recombination|sister chromatid cohesion	nucleoplasm		g.chr14:24642563_24642564insT	AF006264	CCDS41932.1	14q11.2-q12	2013-08-06	2013-08-06	2007-04-03		ENSG00000100918			16879	protein-coding gene	gene with protein product		608193	"""REC8-like 1 (yeast)"", ""REC8 homolog (yeast)"""	REC8L1		10207075, 15935783, 12759374	Standard	NM_005132		Approved	Rec8p, kleisin-alpha	uc001wms.3	O95072		ENST00000311457.3:c.411dupT	14.37:g.24642569_24642569dupT	ENSP00000308699:p.Phe136fs		Somatic				REC8_ENST00000559919.1_Frame_Shift_Ins_p.PF135fs	p.PF135fs			WXS	Illumina GAIIx	Phase_I	O95072	REC8_HUMAN		GBM - Glioblastoma multiforme(265;0.00839)	6	1004_1005	+			135					A8K576|D3DS62|Q658V5|Q6IA92|Q8WUV8|Q9BTF2|Q9NVQ9	Frame_Shift_Ins	INS	ENST00000311457.3	37	c.405_406insT	CCDS41932.1																																																																																				0.530	REC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415889.3	NM_005132		8	470						8	470	---	---	---	---
RBM25	58517	broad.mit.edu	37	14	73572607	73572608	+	Frame_Shift_Del	DEL	AG	AG	-	rs150988201		TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr14:73572607_73572608delAG	ENST00000261973.7	+	11	1480_1481	c.1195_1196delAG	c.(1195-1197)agafs	p.R399fs	RBM25_ENST00000527432.1_Frame_Shift_Del_p.R399fs	NM_021239.2	NP_067062.1	P49756	RBM25_HUMAN	RNA binding motif protein 25	399	Arg-rich.|Glu-rich.|Necessary for nuclear speckle localization.				mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of apoptotic process (GO:0042981)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)		agagcgggaaagagagagagag	0.446																																						ENST00000261973.7																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1)	31						c.(1195-1197)afs		RNA binding motif protein 25																																				SO:0001589	frameshift_variant	58517				apoptosis|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|RNA splicing	cytoplasm|nuclear speck	mRNA binding|nucleotide binding|protein binding	g.chr14:73572607_73572608delAG	BX647116	CCDS32113.1	14q24.3	2013-02-12	2004-04-23	2004-04-29	ENSG00000119707	ENSG00000119707		"""RNA binding motif (RRM) containing"""	23244	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 94"""	612427	"""RNA-binding region (RNP1, RRM) containing 7"""	RNPC7		9847074, 7596406	Standard	NM_021239		Approved	S164, fSAP94, NET52, Snu71	uc001xno.3	P49756	OTTHUMG00000167540	ENST00000261973.7:c.1195_1196delAG	14.37:g.73572617_73572618delAG	ENSP00000261973:p.Arg399fs		Somatic				RBM25_ENST00000527432.1_Frame_Shift_Del_p.R399fs	p.R399fs	NM_021239.2	NP_067062.1	WXS	Illumina GAIIx	Phase_I	P49756	RBM25_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)	11	1480_1481	+			399			Arg-rich.|Glu-rich.|Necessary for nuclear speckle localization.		A0PJL9|B2RNA8|B3KT03|Q2TA72|Q5XJ17|Q6P665|Q9H6A1|Q9UEQ5|Q9UIE9	Frame_Shift_Del	DEL	ENST00000261973.7	37	c.1195_1196delAG	CCDS32113.1																																																																																				0.446	RBM25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394966.1	XM_027330		7	107						7	107	---	---	---	---
THBS1	7057	broad.mit.edu	37	15	39881488	39881489	+	Frame_Shift_Ins	INS	-	-	C	rs370418172		TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr15:39881488_39881489insC	ENST00000260356.5	+	12	2024_2025	c.1859_1860insC	c.(1858-1863)tgccccfs	p.CP620fs		NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	620					activation of MAPK activity (GO:0000187)|behavioral response to pain (GO:0048266)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heat (GO:0034605)|cellular response to tumor necrosis factor (GO:0071356)|chronic inflammatory response (GO:0002544)|endocardial cushion development (GO:0003197)|engulfment of apoptotic cell (GO:0043652)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|immune response (GO:0006955)|negative regulation of angiogenesis (GO:0016525)|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II (GO:0002581)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cGMP-mediated signaling (GO:0010754)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of dendritic cell antigen processing and presentation (GO:0002605)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|negative regulation of plasminogen activation (GO:0010757)|outflow tract morphogenesis (GO:0003151)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood coagulation (GO:0030194)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of chemotaxis (GO:0050921)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of macrophage activation (GO:0043032)|positive regulation of macrophage chemotaxis (GO:0010759)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of transforming growth factor beta1 production (GO:0032914)|positive regulation of translation (GO:0045727)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to endoplasmic reticulum stress (GO:0034976)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to magnesium ion (GO:0032026)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|response to testosterone (GO:0033574)|response to unfolded protein (GO:0006986)|sprouting angiogenesis (GO:0002040)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|sarcoplasmic reticulum (GO:0016529)|secretory granule (GO:0030141)	calcium ion binding (GO:0005509)|collagen V binding (GO:0070052)|fibrinogen binding (GO:0070051)|fibroblast growth factor binding (GO:0017134)|fibronectin binding (GO:0001968)|glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|laminin binding (GO:0043236)|low-density lipoprotein particle binding (GO:0030169)|phosphatidylserine binding (GO:0001786)|proteoglycan binding (GO:0043394)|transforming growth factor beta binding (GO:0050431)			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)		TGCCTGCCCTGCCCCCCACGCT	0.569																																						ENST00000260356.5																			0				breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53						c.(1858-1860)tccfs		thrombospondin 1	Becaplermin(DB00102)																																			SO:0001589	frameshift_variant	7057				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding	g.chr15:39881488_39881489insC		CCDS32194.1	15q15	2009-04-08			ENSG00000137801	ENSG00000137801			11785	protein-coding gene	gene with protein product	"""thrombospondin-1p180"""	188060				2341158, 2335352	Standard	NM_003246		Approved	TSP1, THBS, TSP, THBS-1, TSP-1	uc001zkh.3	P07996	OTTHUMG00000133665	ENST00000260356.5:c.1865dupC	15.37:g.39881494_39881494dupC	ENSP00000260356:p.Cys620fs		Somatic					p.S620fs	NM_003246.2	NP_003237.2	WXS	Illumina GAIIx	Phase_I	P07996	TSP1_HUMAN		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	12	2024_2025	+		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)	620			EGF-like 2; calcium-binding (Potential).		A8K6H4|B4E3J7|B9EGH6|Q15667|Q59E99	Frame_Shift_Ins	INS	ENST00000260356.5	37	c.1859_1860insC	CCDS32194.1																																																																																				0.569	THBS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257831.2	NM_003246		8	594						8	594	---	---	---	---
GOLGA6C	653641	broad.mit.edu	37	15	75562488	75562489	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr15:75562488_75562489insC	ENST00000300576.5	+	18	2030_2031	c.2030_2031insC	c.(2029-2034)aaccccfs	p.NP677fs	RN7SL489P_ENST00000486185.2_RNA	NM_001164404.1	NP_001157876.1	A6NDK9	GOG6C_HUMAN	golgin A6 family, member C	677						Golgi apparatus (GO:0005794)				ovary(1)	1						CCCCATGACAACCCCCCGGTAC	0.604																																						ENST00000300576.5																			0				ovary(1)	1						c.(2029-2031)accfs		golgin A6 family, member C																																				SO:0001589	frameshift_variant	653641							g.chr15:75562488_75562489insC		CCDS58388.1	15q24.2	2014-02-12	2010-02-12		ENSG00000167195	ENSG00000167195			32206	protein-coding gene	gene with protein product			"""golgi autoantigen, golgin subfamily a, 6C"""				Standard	NM_001164404		Approved		uc002azs.2	A6NDK9	OTTHUMG00000172671	ENST00000300576.5:c.2036dupC	15.37:g.75562494_75562494dupC	ENSP00000300576:p.Asn677fs		Somatic					p.T677fs	NM_001164404.1	NP_001157876.1	WXS	Illumina GAIIx	Phase_I	A6NDK9	GOG6C_HUMAN			18	2030_2031	+			677						Frame_Shift_Ins	INS	ENST00000300576.5	37	c.2030_2031insC	CCDS58388.1																																																																																				0.604	GOLGA6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419797.1	NM_001164404		7	307						7	307	---	---	---	---
FURIN	5045	broad.mit.edu	37	15	91424956	91424957	+	Frame_Shift_Ins	INS	-	-	G	rs35641241		TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr15:91424956_91424957insG	ENST00000268171.3	+	16	2512_2513	c.2233_2234insG	c.(2233-2235)cggfs	p.R745fs	FES_ENST00000328850.3_5'Flank|FES_ENST00000394302.1_5'Flank|FES_ENST00000414248.2_5'Flank	NM_002569.2	NP_002560.1	P09958	FURIN_HUMAN	furin (paired basic amino acid cleaving enzyme)	745					cell proliferation (GO:0008283)|cellular protein metabolic process (GO:0044267)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of low-density lipoprotein particle receptor catabolic process (GO:0032804)|negative regulation of transforming growth factor beta1 production (GO:0032911)|nerve growth factor processing (GO:0032455)|nerve growth factor production (GO:0032902)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|peptidyl-glutamic acid carboxylation (GO:0017187)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|post-translational protein modification (GO:0043687)|protein processing (GO:0016485)|proteolysis (GO:0006508)|regulation of endopeptidase activity (GO:0052548)|regulation of protein catabolic process (GO:0042176)|secretion by cell (GO:0032940)|signal peptide processing (GO:0006465)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)|trans-Golgi network transport vesicle (GO:0030140)	endopeptidase activity (GO:0004175)|metal ion binding (GO:0046872)|nerve growth factor binding (GO:0048406)|peptidase activity (GO:0008233)|peptide binding (GO:0042277)|protease binding (GO:0002020)|serine-type endopeptidase activity (GO:0004252)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.R745L(1)		breast(1)|central_nervous_system(4)|endometrium(4)|large_intestine(3)|liver(2)|lung(13)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	36	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			CTTTAGTTTTCGGGGGGTGAAG	0.619																																						ENST00000268171.3																			1	Substitution - Missense(1)	p.R745L(1)	lung(1)	breast(1)|central_nervous_system(4)|endometrium(4)|large_intestine(3)|liver(2)|lung(13)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	36						c.(2233-2235)gggfs		furin (paired basic amino acid cleaving enzyme)																																				SO:0001589	frameshift_variant	5045				cell proliferation|negative regulation of low-density lipoprotein particle receptor catabolic process|negative regulation of transforming growth factor-beta1 production|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|Notch signaling pathway|peptide biosynthetic process|peptidyl-glutamic acid carboxylation|post-translational protein modification|secretion by cell|signal peptide processing|transforming growth factor beta receptor signaling pathway|viral assembly, maturation, egress, and release	cell surface|Golgi lumen|Golgi membrane|integral to membrane|membrane raft|plasma membrane|trans-Golgi network|trans-Golgi network transport vesicle	metal ion binding|nerve growth factor binding|peptide binding|protease binding|serine-type endopeptidase activity|serine-type endopeptidase inhibitor activity	g.chr15:91424956_91424957insG	X17094	CCDS10364.1	15q26.1	2007-01-24	2002-12-04	2002-12-06	ENSG00000140564	ENSG00000140564			8568	protein-coding gene	gene with protein product		136950	"""paired basic amino acid cleaving enzyme (furin, membrane associated receptor protein)"""	PCSK3, FUR, PACE		2251280, 1741956	Standard	NM_002569		Approved	SPC1	uc002bpu.1	P09958	OTTHUMG00000149831	ENST00000268171.3:c.2239dupG	15.37:g.91424962_91424962dupG	ENSP00000268171:p.Arg745fs		Somatic					p.G745fs	NM_002569.2	NP_002560.1	WXS	Illumina GAIIx	Phase_I	P09958	FURIN_HUMAN	Lung(145;0.189)		16	2512_2513	+	Lung NSC(78;0.0771)|all_lung(78;0.137)		745					Q14336|Q6LBS3|Q9UCZ5	Frame_Shift_Ins	INS	ENST00000268171.3	37	c.2233_2234insG	CCDS10364.1																																																																																				0.619	FURIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313492.1	NM_002569		8	247						8	247	---	---	---	---
MSLNL	401827	broad.mit.edu	37	16	830785	830786	+	Intron	INS	-	-	CAG	rs371048330|rs374071660		TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr16:830785_830786insCAG	ENST00000442466.1	-	2	37				MSLNL_ENST00000293892.3_In_Frame_Ins_p.72_73insC			Q96KJ4	MSLNL_HUMAN	mesothelin-like						cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						CGGGTAGGTGACGGTGTGCACG	0.589																																						ENST00000293892.3																			0				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						c.(214-216)cca>cCTGca		mesothelin-like																																				SO:0001627	intron_variant	401827				cell adhesion	integral to membrane		g.chr16:830785_830786insCAG			16p13.3	2008-08-06	2008-07-04	2008-07-04	ENSG00000162006	ENSG00000162006			14170	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 37"""	C16orf37			Standard	NG_032123		Approved	MPFL		Q96KJ4		ENST00000442466.1:c.38-623->CTG	16.37:g.830785_830786insCAG			Somatic				MSLNL_ENST00000442466.1_Intron	p.72_73insA			WXS	Illumina GAIIx	Phase_I	Q96KJ4	MSLNL_HUMAN			3	214_215	-			0						In_Frame_Ins	INS	ENST00000442466.1	37	c.215_216insCTG																																																																																					0.589	MSLNL-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_001025190		9	238						9	238	---	---	---	---
CIITA	4261	broad.mit.edu	37	16	10995899	10995900	+	Frame_Shift_Ins	INS	-	-	C	rs555184617		TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr16:10995899_10995900insC	ENST00000324288.8	+	7	619_620	c.486_487insC	c.(487-489)cccfs	p.P163fs	CIITA_ENST00000537380.1_3'UTR|CIITA_ENST00000381835.5_Intron	NM_000246.3	NP_000237	P33076	C2TA_HUMAN	class II, major histocompatibility complex, transactivator	163					aging (GO:0007568)|cellular response to electrical stimulus (GO:0071257)|cellular response to exogenous dsRNA (GO:0071360)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|inflammatory response (GO:0006954)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of collagen biosynthetic process (GO:0032966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to antibiotic (GO:0046677)|response to interferon-gamma (GO:0034341)|transcription, DNA-templated (GO:0006351)	cell surface (GO:0009986)|nucleoplasm (GO:0005654)|PML body (GO:0016605)	activating transcription factor binding (GO:0033613)|ATP binding (GO:0005524)|GTP binding (GO:0005525)|kinase activity (GO:0016301)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|transferase activity, transferring acyl groups (GO:0016746)			central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						TCACAGCTGAGCCCCCCACTGT	0.634			T	"""FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"""	"""PMBL, Hodgkin Lymphona, """																																	ENST00000324288.8				Dom	yes		16	16p13	4261	T	"""class II, major histocompatibility complex, transactivator"""			L	"""FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"""		"""PMBL, Hodgkin Lymphona, """		0				central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						c.(484-489)gaccccfs		class II, major histocompatibility complex, transactivator																																				SO:0001589	frameshift_variant	4261				interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding	g.chr16:10995899_10995900insC	U18259	CCDS10544.1, CCDS66943.1, CCDS73826.1	16p13	2014-09-17	2005-08-12	2005-08-12	ENSG00000179583	ENSG00000179583		"""Nucleotide-binding domain and leucine rich repeat containing"""	7067	protein-coding gene	gene with protein product	"""NLR family, acid domain containing"", ""nucleotide-binding oligomerization domain, leucine rich repeat and acid domain containing"""	600005	"""MHC class II transactivator"""	MHC2TA		8402893	Standard	NM_000246		Approved	C2TA, NLRA	uc002dai.4	P33076	OTTHUMG00000129753	ENST00000324288.8:c.492dupC	16.37:g.10995905_10995905dupC	ENSP00000316328:p.Pro163fs		Somatic				CIITA_ENST00000381835.5_Intron|CIITA_ENST00000537380.1_3'UTR	p.DP162fs	NM_000246.3	NP_000237.2	WXS	Illumina GAIIx	Phase_I	P33076	C2TA_HUMAN			7	619_620	+			162					A0N0N9|D3DUG0|E9PFE0|Q29675|Q8SNB8|Q96KL4	Frame_Shift_Ins	INS	ENST00000324288.8	37	c.486_487insC	CCDS10544.1																																																																																				0.634	CIITA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251966.2	NM_000246		13	956						13	956	---	---	---	---
PRRT2	112476	broad.mit.edu	37	16	29825015	29825016	+	Frame_Shift_Ins	INS	-	-	C	rs587778771		TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr16:29825015_29825016insC	ENST00000358758.7	+	2	923_924	c.640_641insC	c.(640-642)gccfs	p.A214fs	AC009133.14_ENST00000569981.1_RNA|PRRT2_ENST00000300797.6_Frame_Shift_Ins_p.A214fs|PAGR1_ENST00000609618.1_5'Flank|PRRT2_ENST00000567659.1_Frame_Shift_Ins_p.A214fs|PRRT2_ENST00000567551.1_3'UTR|PAGR1_ENST00000320330.6_5'Flank|AC009133.20_ENST00000569039.1_RNA	NM_001256442.1|NM_001256443.1|NM_145239.2	NP_001243371.1|NP_001243372.1|NP_660282.2	Q7Z6L0	PRRT2_HUMAN	proline-rich transmembrane protein 2	214	Pro-rich.		A -> P. {ECO:0000269|PubMed:22101681}.	A -> AP (in Ref. 3; CAD38881). {ECO:0000305}.	neuromuscular process controlling posture (GO:0050884)|response to biotic stimulus (GO:0009607)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)		p.R217fs*12(1)|p.A214P(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	8						AGCCAATGGGGCCCCCCCCCGA	0.653																																						ENST00000300797.6																			2	Substitution - Missense(1)|Deletion - Frameshift(1)	p.R217fs*12(1)|p.A214P(1)	large_intestine(1)|central_nervous_system(1)	central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	8						c.(640-642)cccfs		proline-rich transmembrane protein 2																																				SO:0001589	frameshift_variant	112476				response to biotic stimulus	integral to membrane		g.chr16:29825015_29825016insC	BC011405	CCDS10654.1, CCDS58445.1, CCDS58446.1	16p11.2	2014-02-03			ENSG00000167371	ENSG00000167371		"""Proline-rich transmembrane proteins"""	30500	protein-coding gene	gene with protein product	"""interferon induced transmembrane protein domain containing 1"""	614386	"""infantile convulsions and paroxysmal choreoathetosis"""	ICCA		22101681, 22243967	Standard	NM_145239		Approved	FLJ25513, DKFZp547J199, IFITMD1, FICCA	uc002dud.3	Q7Z6L0	OTTHUMG00000177142	ENST00000358758.7:c.649dupC	16.37:g.29825024_29825024dupC	ENSP00000351608:p.Ala214fs		Somatic				PRRT2_ENST00000567659.1_Frame_Shift_Ins_p.P214fs|PRRT2_ENST00000567551.1_3'UTR|AC009133.20_ENST00000569039.1_RNA|PRRT2_ENST00000358758.7_Frame_Shift_Ins_p.P214fs	p.P214fs			WXS	Illumina GAIIx	Phase_I	Q7Z6L0	PRRT2_HUMAN			2	814_815	+			214	A -> AP (in Ref. 3; CAD38881).		Pro-rich.		A8K8M8|Q8N2N8|Q8NAQ7|Q8ND36|Q96FA8	Frame_Shift_Ins	INS	ENST00000358758.7	37	c.640_641insC	CCDS10654.1																																																																																				0.653	PRRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255161.3	NM_145239		3	5						3	5	---	---	---	---
PLD2	5338	broad.mit.edu	37	17	4719138	4719139	+	Frame_Shift_Ins	INS	-	-	G	rs368018438		TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr17:4719138_4719139insG	ENST00000263088.6	+	14	1495_1496	c.1364_1365insG	c.(1363-1368)ctggggfs	p.LG455fs	PLD2_ENST00000572940.1_Frame_Shift_Ins_p.LG455fs	NM_001243108.1|NM_002663.4	NP_001230037.1|NP_002654.3	O14939	PLD2_HUMAN	phospholipase D2	455	Catalytic.|PLD phosphodiesterase 1. {ECO:0000255|PROSITE-ProRule:PRU00153}.				cytoskeleton organization (GO:0007010)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|G-protein coupled receptor internalization (GO:0002031)|glycerophospholipid biosynthetic process (GO:0046474)|innate immune response (GO:0045087)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	brush border membrane (GO:0031526)|endoplasmic reticulum membrane (GO:0005789)|plasma membrane (GO:0005886)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phosphatidylinositol binding (GO:0035091)|phospholipase D activity (GO:0004630)			autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)	31					Choline(DB00122)	GTAGCATTCCTGGGGGGACTGG	0.594											OREG0024105	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000263088.6																			0				autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)	31						c.(1363-1365)cggfs		phospholipase D2	Choline(DB00122)																																			SO:0001589	frameshift_variant	5338				cell communication|cytoskeleton organization|small GTPase mediated signal transduction		NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity	g.chr17:4719138_4719139insG	AF035483	CCDS11057.1, CCDS58507.1	17p13.3	2008-04-14			ENSG00000129219	ENSG00000129219	3.1.4.4		9068	protein-coding gene	gene with protein product	"""choline phosphatase 2"""	602384				9858823, 9582313	Standard	NM_002663		Approved		uc002fzc.3	O14939	OTTHUMG00000090779	ENST00000263088.6:c.1370dupG	17.37:g.4719144_4719144dupG	ENSP00000263088:p.Leu455fs		Somatic	OREG0024105	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	621	PLD2_ENST00000572940.1_Frame_Shift_Ins_p.R455fs	p.R455fs	NM_001243108.1|NM_002663.4	NP_001230037.1|NP_002654.3	WXS	Illumina GAIIx	Phase_I	O14939	PLD2_HUMAN			14	1495_1496	+			455			Catalytic.|PLD phosphodiesterase 1.		I3L2C9|O43540|O43579|O43580|Q6PGR0|Q96BY3	Frame_Shift_Ins	INS	ENST00000263088.6	37	c.1364_1365insG	CCDS11057.1																																																																																				0.594	PLD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207561.3	NM_002663		8	542						8	542	---	---	---	---
GPATCH8	23131	broad.mit.edu	37	17	42476034	42476035	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr17:42476034_42476035insG	ENST00000591680.1	-	8	3440_3441	c.3410_3411insC	c.(3409-3411)ccafs	p.P1137fs	GPATCH8_ENST00000434000.1_Frame_Shift_Ins_p.P1059fs	NM_001002909.2	NP_001002909.1	Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	1137							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		TGCCAAGAGATGGGGGGAGCTT	0.554																																						ENST00000434000.1																			0				breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50						c.(3175-3177)ctcfs		G patch domain containing 8																																				SO:0001589	frameshift_variant	23131					intracellular	nucleic acid binding|zinc ion binding	g.chr17:42476034_42476035insG	AB011125	CCDS32666.1	17q21.31	2013-01-28	2006-08-22	2006-12-13	ENSG00000186566	ENSG00000186566		"""G patch domain containing"""	29066	protein-coding gene	gene with protein product		614396	"""KIAA0553"""	KIAA0553, GPATC8		9628581	Standard	NM_001002909		Approved		uc002igw.2	Q9UKJ3	OTTHUMG00000181818	ENST00000591680.1:c.3411dupC	17.37:g.42476040_42476040dupG	ENSP00000467556:p.Pro1137fs		Somatic				GPATCH8_ENST00000591680.1_Frame_Shift_Ins_p.L1137fs	p.L1059fs			WXS	Illumina GAIIx	Phase_I	Q9UKJ3	GPTC8_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.206)	9	3458_3459	-		Prostate(33;0.0181)	1137					B9EGP9|O60300|Q8TB99	Frame_Shift_Ins	INS	ENST00000591680.1	37	c.3176_3177insC	CCDS32666.1																																																																																				0.554	GPATCH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457797.1	NM_001002909		7	2093						7	2093	---	---	---	---
MRPL10	124995	broad.mit.edu	37	17	45905873	45905874	+	Frame_Shift_Ins	INS	-	-	G	rs147331240		TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr17:45905873_45905874insG	ENST00000351111.2	-	2	220_221	c.215_216insC	c.(214-216)ccafs	p.P72fs	MRPL10_ENST00000290208.7_Frame_Shift_Ins_p.P82fs|MRPL10_ENST00000414011.1_Frame_Shift_Ins_p.P82fs	NM_145255.3	NP_660298.2	Q7Z7H8	RM10_HUMAN	mitochondrial ribosomal protein L10	72					ribosome biogenesis (GO:0042254)|translation (GO:0006412)	mitochondrial large ribosomal subunit (GO:0005762)|mitochondrion (GO:0005739)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			endometrium(3)|large_intestine(1)|lung(3)|ovary(1)	8						TTACCTCCTGTGGGGGGCTGGG	0.525																																						ENST00000290208.7																			0				endometrium(3)|large_intestine(1)|lung(3)|ovary(1)	8						c.(244-246)ccafs		mitochondrial ribosomal protein L10			,	0,4264		0,0,2132					,	-10.1	0.0			44	1,8253		0,1,4126	no	frameshift,frameshift	MRPL10	NM_148887.2,NM_145255.3	,	0,1,6258	A1A1,A1R,RR		0.0121,0.0,0.0080	,	,		1,12517				SO:0001589	frameshift_variant	124995				ribosome biogenesis|translation	mitochondrial large ribosomal subunit	structural constituent of ribosome	g.chr17:45905873_45905874insG	AB051618	CCDS11516.1, CCDS11517.1	17q21.3	2012-09-13			ENSG00000159111	ENSG00000159111		"""Mitochondrial ribosomal proteins / large subunits"""	14055	protein-coding gene	gene with protein product	"""39S ribosomal protein L10, mitochondrial"""	611825				11551941	Standard	NM_148887		Approved	RPML8, MRP-L8, L10MT, MRP-L10, MRPL8, MGC17973	uc002ily.3	Q7Z7H8	OTTHUMG00000156302	ENST00000351111.2:c.216dupC	17.37:g.45905879_45905879dupG	ENSP00000324100:p.Pro72fs		Somatic				MRPL10_ENST00000351111.2_Frame_Shift_Ins_p.P72fs|MRPL10_ENST00000414011.1_Frame_Shift_Ins_p.P82fs	p.P82fs			WXS	Illumina GAIIx	Phase_I	Q7Z7H8	RM10_HUMAN			2	697_698	-			72					A6NGJ4|Q96B80|Q96Q55	Frame_Shift_Ins	INS	ENST00000351111.2	37	c.245_246insC	CCDS11516.1																																																																																				0.525	MRPL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343764.1	NM_145255		7	253						7	253	---	---	---	---
MRPL38	64978	broad.mit.edu	37	17	73895694	73895695	+	Frame_Shift_Ins	INS	-	-	G	rs368094656		TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr17:73895694_73895695insG	ENST00000309352.3	-	7	1308_1309	c.771_772insC	c.(769-774)cccttcfs	p.F258fs	MRPL38_ENST00000585475.1_5'Flank|TRIM65_ENST00000269383.3_5'Flank|RP11-552F3.10_ENST00000587267.1_RNA|MRPL38_ENST00000409963.3_Frame_Shift_Ins_p.F74fs	NM_032478.3	NP_115867.2	Q96DV4	RM38_HUMAN	mitochondrial ribosomal protein L38	258						mitochondrion (GO:0005739)|ribosome (GO:0005840)				ovary(1)|pancreas(1)|prostate(2)|skin(1)	5			all cancers(21;0.000154)|Epithelial(20;0.000156)|BRCA - Breast invasive adenocarcinoma(9;0.00936)|LUSC - Lung squamous cell carcinoma(166;0.154)			CGGGCAGGGAAGGGGGGGAGGT	0.614																																						ENST00000309352.3																			0				ovary(1)|pancreas(1)|prostate(2)|skin(1)	5						c.(769-774)cctcccfs		mitochondrial ribosomal protein L38				7,4253		0,7,2123						5.9	1.0			51	11,8241		0,11,4115	no	frameshift	MRPL38	NM_032478.3		0,18,6238	A1A1,A1R,RR		0.1333,0.1643,0.1439				18,12494				SO:0001589	frameshift_variant	64978					actin cytoskeleton|mitochondrion|ribosome		g.chr17:73895694_73895695insG	AB051345	CCDS11733.2	17q23-q25	2012-09-13			ENSG00000204316	ENSG00000204316		"""Mitochondrial ribosomal proteins / large subunits"""	14033	protein-coding gene	gene with protein product		611844				11543634	Standard	NM_032478		Approved	RPML3, MRP-L3, HSPC262, MGC4810	uc010wso.1	Q96DV4	OTTHUMG00000152977	ENST00000309352.3:c.772dupC	17.37:g.73895701_73895701dupG	ENSP00000308275:p.Phe258fs		Somatic				RP11-552F3.10_ENST00000587267.1_RNA|MRPL38_ENST00000409963.3_Frame_Shift_Ins_p.P74fs	p.P258fs	NM_032478.3	NP_115867.2	WXS	Illumina GAIIx	Phase_I	Q96DV4	RM38_HUMAN	all cancers(21;0.000154)|Epithelial(20;0.000156)|BRCA - Breast invasive adenocarcinoma(9;0.00936)|LUSC - Lung squamous cell carcinoma(166;0.154)		7	1308_1309	-			258					B3KN96|Q96Q66|Q9P0B9	Frame_Shift_Ins	INS	ENST00000309352.3	37	c.771_772insC	CCDS11733.2																																																																																				0.614	MRPL38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328829.1	NM_032478		3	5						3	5	---	---	---	---
ZBTB7C	201501	broad.mit.edu	37	18	45566518	45566519	+	Frame_Shift_Ins	INS	-	-	C	rs113275715		TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr18:45566518_45566519insC	ENST00000588982.1	-	3	1461_1462	c.960_961insG	c.(958-963)gggcctfs	p.P321fs	ZBTB7C_ENST00000535628.2_Frame_Shift_Ins_p.P321fs|ZBTB7C_ENST00000590800.1_Frame_Shift_Ins_p.P321fs|ZBTB7C_ENST00000332053.2_Frame_Shift_Ins_p.P321fs|ZBTB7C_ENST00000586438.1_Frame_Shift_Ins_p.P321fs			A1YPR0	ZBT7C_HUMAN	zinc finger and BTB domain containing 7C	321	Pro-rich.						metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						GGTCCCAGAGGCCCCCCCGGCA	0.624																																						ENST00000588982.1																			0				endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						c.(958-963)ggctctfs		zinc finger and BTB domain containing 7C																																				SO:0001589	frameshift_variant	201501					intracellular	nucleic acid binding|zinc ion binding	g.chr18:45566518_45566519insC	Y14591	CCDS32830.1	18q21.1	2013-01-08		2005-04-07	ENSG00000184828	ENSG00000184828		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	31700	protein-coding gene	gene with protein product			"""zinc finger and BTB domain containing 36"""	ZBTB36			Standard	NM_001039360		Approved	ZNF857C	uc002ldb.3	A1YPR0		ENST00000588982.1:c.961dupG	18.37:g.45566525_45566525dupC	ENSP00000468782:p.Pro321fs		Somatic				ZBTB7C_ENST00000535628.2_Frame_Shift_Ins_p.S321fs|ZBTB7C_ENST00000586438.1_Frame_Shift_Ins_p.S321fs|ZBTB7C_ENST00000590800.1_Frame_Shift_Ins_p.S321fs|ZBTB7C_ENST00000332053.2_Frame_Shift_Ins_p.S321fs	p.S321fs			WXS	Illumina GAIIx	Phase_I	A1YPR0	ZBT7C_HUMAN			3	1461_1462	-			321			Pro-rich.		O73453	Frame_Shift_Ins	INS	ENST00000588982.1	37	c.960_961insG	CCDS32830.1																																																																																				0.624	ZBTB7C-025	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450731.1	NM_001039360		17	520						17	520	---	---	---	---
ZBTB7C	201501	broad.mit.edu	37	18	45567075	45567076	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr18:45567075_45567076insC	ENST00000588982.1	-	3	904_905	c.403_404insG	c.(403-405)gagfs	p.E135fs	ZBTB7C_ENST00000535628.2_Frame_Shift_Ins_p.E135fs|ZBTB7C_ENST00000590800.1_Frame_Shift_Ins_p.E135fs|ZBTB7C_ENST00000332053.2_Frame_Shift_Ins_p.E135fs|ZBTB7C_ENST00000586438.1_Frame_Shift_Ins_p.E135fs			A1YPR0	ZBT7C_HUMAN	zinc finger and BTB domain containing 7C	135	Asp-rich.|Glu-rich.						metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						gtcatcctcctcccccccgtcc	0.574																																						ENST00000588982.1																			0				endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						c.(403-405)ggafs		zinc finger and BTB domain containing 7C																																				SO:0001589	frameshift_variant	201501					intracellular	nucleic acid binding|zinc ion binding	g.chr18:45567075_45567076insC	Y14591	CCDS32830.1	18q21.1	2013-01-08		2005-04-07	ENSG00000184828	ENSG00000184828		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	31700	protein-coding gene	gene with protein product			"""zinc finger and BTB domain containing 36"""	ZBTB36			Standard	NM_001039360		Approved	ZNF857C	uc002ldb.3	A1YPR0		ENST00000588982.1:c.404dupG	18.37:g.45567082_45567082dupC	ENSP00000468782:p.Glu135fs		Somatic				ZBTB7C_ENST00000535628.2_Frame_Shift_Ins_p.G135fs|ZBTB7C_ENST00000586438.1_Frame_Shift_Ins_p.G135fs|ZBTB7C_ENST00000590800.1_Frame_Shift_Ins_p.G135fs|ZBTB7C_ENST00000332053.2_Frame_Shift_Ins_p.G135fs	p.G135fs			WXS	Illumina GAIIx	Phase_I	A1YPR0	ZBT7C_HUMAN			3	904_905	-			135			Asp-rich.|Glu-rich.		O73453	Frame_Shift_Ins	INS	ENST00000588982.1	37	c.403_404insG	CCDS32830.1																																																																																				0.574	ZBTB7C-025	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450731.1	NM_001039360		7	246						7	246	---	---	---	---
ECSIT	51295	broad.mit.edu	37	19	11618820	11618821	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr19:11618820_11618821insG	ENST00000270517.7	-	5	916_917	c.781_782insC	c.(781-783)cagfs	p.Q261fs	ECSIT_ENST00000592312.1_Frame_Shift_Ins_p.Q145fs|ECSIT_ENST00000417981.2_Frame_Shift_Ins_p.Q47fs|ECSIT_ENST00000588998.1_Frame_Shift_Ins_p.Q47fs|ECSIT_ENST00000591104.1_Frame_Shift_Ins_p.Q261fs|CTC-398G3.6_ENST00000585656.1_5'Flank|ZNF653_ENST00000293771.5_5'Flank|ECSIT_ENST00000252440.7_Frame_Shift_Ins_p.Q261fs|ZNF653_ENST00000593191.1_5'Flank|ECSIT_ENST00000591352.1_5'UTR	NM_016581.4	NP_057665.2	Q9BQ95	ECSIT_HUMAN	ECSIT signalling integrator	261					BMP signaling pathway (GO:0030509)|innate immune response (GO:0045087)|mesoderm formation (GO:0001707)|oxidation-reduction process (GO:0055114)|regulation of oxidoreductase activity (GO:0051341)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	oxidoreductase activity, acting on NAD(P)H (GO:0016651)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	11						GATGTGGGGCTGGGGGGGATCT	0.584																																						ENST00000270517.7																			0				kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	11						c.(781-783)gccfs		ECSIT signalling integrator																																				SO:0001589	frameshift_variant	51295				innate immune response|regulation of oxidoreductase activity	mitochondrion	oxidoreductase activity, acting on NADH or NADPH|protein binding	g.chr19:11618820_11618821insG	BC005119	CCDS12262.1, CCDS45979.1, CCDS45980.1, CCDS59353.1	19p13.2	2013-05-24	2013-05-24			ENSG00000130159		"""Mitochondrial respiratory chain complex assembly factors"""	29548	protein-coding gene	gene with protein product	"""signaling intermediate in Toll pathway evolutionarily conserved ortholog (mouse)"""	608388	"""ECSIT homolog (Drosophila)"""			10465784, 22982022	Standard	NM_001142464		Approved	SITPEC	uc002msb.3	Q9BQ95		ENST00000270517.7:c.782dupC	19.37:g.11618827_11618827dupG	ENSP00000270517:p.Gln261fs		Somatic				ECSIT_ENST00000417981.2_Frame_Shift_Ins_p.A47fs|ECSIT_ENST00000591104.1_Frame_Shift_Ins_p.A261fs|ECSIT_ENST00000252440.7_Frame_Shift_Ins_p.A261fs|ECSIT_ENST00000588998.1_Frame_Shift_Ins_p.A47fs|ECSIT_ENST00000592312.1_Frame_Shift_Ins_p.A145fs|ECSIT_ENST00000591352.1_5'UTR	p.A261fs	NM_016581.4	NP_057665.2	WXS	Illumina GAIIx	Phase_I	Q9BQ95	ECSIT_HUMAN			5	916_917	-			261					E9PAN9|K7EMM0|Q96HQ7|Q9NYI1	Frame_Shift_Ins	INS	ENST00000270517.7	37	c.781_782insC	CCDS12262.1																																																																																				0.584	ECSIT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442603.2	NM_016581		7	202						7	202	---	---	---	---
MPV17L2	84769	broad.mit.edu	37	19	18305818	18305819	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr19:18305818_18305819insC	ENST00000599612.2	+	4	586_587	c.486_487insC	c.(487-489)cccfs	p.P163fs		NM_032683.2	NP_116072.2	Q567V2	M17L2_HUMAN	MPV17 mitochondrial membrane protein-like 2	163						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				large_intestine(1)|lung(2)|urinary_tract(1)	4						TCCTCTTCGTGCCCCCCCAATT	0.653																																						ENST00000599612.2																			0				large_intestine(1)|lung(2)|urinary_tract(1)	4						c.(484-489)gtccccfs		MPV17 mitochondrial membrane protein-like 2																																				SO:0001589	frameshift_variant	84769					integral to membrane		g.chr19:18305818_18305819insC	AK094091	CCDS42522.1	19p13.11	2011-05-26			ENSG00000254858	ENSG00000254858			28177	protein-coding gene	gene with protein product						12477932	Standard	NM_032683		Approved	FKSG24, MGC12972	uc002nid.3	Q567V2	OTTHUMG00000165628	ENST00000599612.2:c.493dupC	19.37:g.18305825_18305825dupC	ENSP00000469836:p.Pro163fs		Somatic				MPV17L2_ENST00000534474.2_Frame_Shift_Ins_p.P137fs	p.VP162fs	NM_032683.2	NP_116072.2	WXS	Illumina GAIIx	Phase_I	Q567V2	M17L2_HUMAN			4	586_587	+			162					Q96P34|Q96QA0|Q9BSG4	Frame_Shift_Ins	INS	ENST00000599612.2	37	c.486_487insC	CCDS42522.1																																																																																				0.653	MPV17L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466294.2	NM_032683		15	259						15	259	---	---	---	---
CD22	933	broad.mit.edu	37	19	35832248	35832249	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr19:35832248_35832249insC	ENST00000085219.5	+	8	1576_1577	c.1510_1511insC	c.(1510-1512)gccfs	p.A504fs	CD22_ENST00000544992.2_Frame_Shift_Ins_p.A504fs|CD22_ENST00000419549.2_Frame_Shift_Ins_p.A332fs|CD22_ENST00000270311.6_Frame_Shift_Ins_p.A384fs|CD22_ENST00000341773.6_Frame_Shift_Ins_p.A327fs|CD22_ENST00000594250.1_Frame_Shift_Ins_p.A327fs|CD22_ENST00000536635.2_Frame_Shift_Ins_p.A416fs	NM_001771.3	NP_001762.2	P20273	CD22_HUMAN	CD22 molecule	504					cell adhesion (GO:0007155)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)			breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			CCCTCCAGATGCCCCCCGAGAC	0.619																																					Ovarian(42;1009 1133 23674 26041)	ENST00000085219.5																			0				breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54						c.(1510-1512)cccfs		CD22 molecule	OspA lipoprotein(DB00045)																																			SO:0001589	frameshift_variant	933				cell adhesion		protein binding|sugar binding	g.chr19:35832248_35832249insC	X52785	CCDS12457.1, CCDS54247.1, CCDS54248.1, CCDS54249.1, CCDS62634.1	19q13.1	2013-01-29	2006-03-28		ENSG00000012124	ENSG00000012124		"""CD molecules"", ""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1643	protein-coding gene	gene with protein product	"""sialic acid binding Ig-like lectin 2"""	107266	"""CD22 antigen"""			8496602, 1691828	Standard	NM_001185099		Approved	SIGLEC-2, SIGLEC2	uc010edt.3	P20273		ENST00000085219.5:c.1516dupC	19.37:g.35832254_35832254dupC	ENSP00000085219:p.Ala504fs		Somatic				CD22_ENST00000536635.2_Frame_Shift_Ins_p.P416fs|CD22_ENST00000544992.2_Frame_Shift_Ins_p.P504fs|CD22_ENST00000419549.2_Frame_Shift_Ins_p.P332fs|CD22_ENST00000270311.6_Frame_Shift_Ins_p.P384fs|CD22_ENST00000341773.6_Frame_Shift_Ins_p.P327fs|CD22_ENST00000594250.1_Frame_Shift_Ins_p.P327fs	p.P504fs	NM_001771.3	NP_001762.2	WXS	Illumina GAIIx	Phase_I	P20273	CD22_HUMAN	Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		8	1576_1577	+	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		504					F5GYU4|F5H7U3|O95699|O95701|O95702|O95703|Q01665|Q32M46|Q92872|Q92873|Q9UQA6|Q9UQA7|Q9UQA8|Q9UQA9|Q9UQB0|Q9Y2A6	Frame_Shift_Ins	INS	ENST00000085219.5	37	c.1510_1511insC	CCDS12457.1																																																																																				0.619	CD22-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466099.1	NM_001771		7	213						7	213	---	---	---	---
NSFL1C	55968	broad.mit.edu	37	20	1426464	1426465	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr20:1426464_1426465insG	ENST00000216879.4	-	8	1663_1664	c.796_797insC	c.(796-798)cagfs	p.Q266fs	NSFL1C_ENST00000350991.4_Frame_Shift_Ins_p.Q268fs|NSFL1C_ENST00000461211.1_5'UTR|NSFL1C_ENST00000381658.4_Frame_Shift_Ins_p.Q155fs|NSFL1C_ENST00000353088.2_Frame_Shift_Ins_p.Q235fs|NSFL1C_ENST00000476071.1_Frame_Shift_Ins_p.Q268fs	NM_016143.4	NP_057227.2	Q9UNZ2	NSF1C_HUMAN	NSFL1 (p97) cofactor (p47)	266						chromosome (GO:0005694)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)			breast(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	16						ACTCAACACCTGGGGGGCAGTG	0.51																																						ENST00000216879.4																			0				breast(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	16						c.(796-798)ggtfs		NSFL1 (p97) cofactor (p47)																																				SO:0001589	frameshift_variant	55968					chromosome|Golgi stack|nucleus	lipid binding|protein binding	g.chr20:1426464_1426465insG	AF112211	CCDS13015.1, CCDS13016.1, CCDS56175.1	20p13	2011-06-28			ENSG00000088833	ENSG00000088833		"""UBX domain containing"""	15912	protein-coding gene	gene with protein product	"""SHP1 homolog (S. cerevisiae)"", ""UBX domain protein 2C"""	606610				11042152	Standard	NM_016143		Approved	dJ776F14.1, p47, UBXD10, UBX1, UBXN2C	uc002wfc.3	Q9UNZ2	OTTHUMG00000031665	ENST00000216879.4:c.797dupC	20.37:g.1426470_1426470dupG	ENSP00000216879:p.Gln266fs		Somatic				NSFL1C_ENST00000350991.4_Frame_Shift_Ins_p.G268fs|NSFL1C_ENST00000353088.2_Frame_Shift_Ins_p.G235fs|NSFL1C_ENST00000381658.4_Frame_Shift_Ins_p.G155fs|NSFL1C_ENST00000476071.1_Frame_Shift_Ins_p.G268fs|NSFL1C_ENST00000461211.1_5'UTR	p.G266fs	NM_016143.4	NP_057227.2	WXS	Illumina GAIIx	Phase_I	Q9UNZ2	NSF1C_HUMAN			8	1663_1664	-			266					A2A2L1|B2RD74|Q5JXA4|Q5JXA5|Q7Z533|Q9H102|Q9NVL9|Q9UI06	Frame_Shift_Ins	INS	ENST00000216879.4	37	c.796_797insC	CCDS13015.1																																																																																				0.510	NSFL1C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077525.2	NM_016143		7	588						7	588	---	---	---	---
MID1	4281	broad.mit.edu	37	X	10417613	10417614	+	Frame_Shift_Ins	INS	-	-	G	rs398123342|rs1802191		TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chrX:10417613_10417614insG	ENST00000317552.4	-	10	2198_2199	c.1798_1799insC	c.(1798-1800)cacfs	p.H600fs	MID1_ENST00000380782.2_3'UTR|MID1_ENST00000453318.2_Frame_Shift_Ins_p.H600fs|MID1_ENST00000380780.1_Frame_Shift_Ins_p.H600fs|MID1_ENST00000479925.1_5'UTR|MID1_ENST00000380779.1_Frame_Shift_Ins_p.H600fs|MID1_ENST00000380785.1_Frame_Shift_Ins_p.H600fs|MID1_ENST00000380787.1_Frame_Shift_Ins_p.H600fs	NM_000381.3|NM_033289.1	NP_000372.1|NP_150631.1	O15344	TRI18_HUMAN	midline 1	600	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				microtubule cytoskeleton organization (GO:0000226)|negative regulation of microtubule depolymerization (GO:0007026)|pattern specification process (GO:0007389)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein localization to microtubule (GO:0035372)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	ligase activity (GO:0016874)|microtubule binding (GO:0008017)|phosphoprotein binding (GO:0051219)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	26						GCGCCGGAGGTGGGGGGCAGGC	0.54																																						ENST00000317552.4																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	26	GRCh37	CD071368|CI067580	MID1	D|I	rs1802191	c.(1798-1800)cctfs		midline 1 (Opitz/BBB syndrome)																																				SO:0001589	frameshift_variant	4281				microtubule cytoskeleton organization|pattern specification process|positive regulation of stress-activated MAPK cascade	cytoplasm|microtubule|microtubule associated complex|spindle	ligase activity|ubiquitin protein ligase binding|zinc ion binding	g.chrX:10417613_10417614insG	Y13667	CCDS14138.1, CCDS75952.1, CCDS75953.1	Xp22	2014-06-18	2014-06-18		ENSG00000101871	ENSG00000101871		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Fibronectin type III domain containing"""	7095	protein-coding gene	gene with protein product	"""Opitz/BBB syndrome"""	300552				9354791, 9425238	Standard	NM_001098624		Approved	OS, FXY, TRIM18, RNF59	uc004cti.4	O15344	OTTHUMG00000021127	ENST00000317552.4:c.1799dupC	X.37:g.10417619_10417619dupG	ENSP00000312678:p.His600fs		Somatic				MID1_ENST00000479925.1_5'UTR|MID1_ENST00000380785.1_Frame_Shift_Ins_p.P600fs|MID1_ENST00000380780.1_Frame_Shift_Ins_p.P600fs|MID1_ENST00000453318.2_Frame_Shift_Ins_p.P600fs|MID1_ENST00000380782.2_3'UTR|MID1_ENST00000380787.1_Frame_Shift_Ins_p.P600fs|MID1_ENST00000380779.1_Frame_Shift_Ins_p.P600fs	p.P600fs	NM_000381.3|NM_033289.1	NP_000372.1|NP_150631.1	WXS	Illumina GAIIx	Phase_I	O15344	TRI18_HUMAN			10	2198_2199	-			600			B30.2/SPRY.		B2RCG2|O75361|Q9BZX5	Frame_Shift_Ins	INS	ENST00000317552.4	37	c.1798_1799insC	CCDS14138.1																																																																																				0.540	MID1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055738.1			13	1152						13	1152	---	---	---	---
NOX1	27035	broad.mit.edu	37	X	100117691	100117692	+	Frame_Shift_Ins	INS	-	-	C	rs145552525	byFrequency	TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chrX:100117691_100117692insC	ENST00000372966.3	-	5	660_661	c.455_456insG	c.(454-456)ggtfs	p.G152fs	NOX1_ENST00000217885.5_Frame_Shift_Ins_p.G152fs|NOX1_ENST00000372964.1_Frame_Shift_Ins_p.G152fs|NOX1_ENST00000372960.4_Frame_Shift_Ins_p.G115fs	NM_007052.4|NM_013955.2	NP_008983.2|NP_039249.1	Q9Y5S8	NOX1_HUMAN	NADPH oxidase 1	152	Ferric oxidoreductase.				angiogenesis (GO:0001525)|cell migration (GO:0016477)|cellular response to hyperoxia (GO:0071455)|cellular stress response to acidic pH (GO:1990451)|extracellular matrix organization (GO:0030198)|hydrogen peroxide metabolic process (GO:0042743)|inflammatory response (GO:0006954)|intracellular pH elevation (GO:0051454)|NADP metabolic process (GO:0006739)|oxidation-reduction process (GO:0055114)|oxygen metabolic process (GO:0072592)|positive regulation of cell proliferation (GO:0008284)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of JNK cascade (GO:0046330)|positive regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902177)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation vascular endothelial growth factor production (GO:0010575)|proton transport (GO:0015992)|regulation of blood pressure (GO:0008217)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|respiratory burst (GO:0045730)|signal transduction (GO:0007165)|superoxide anion generation (GO:0042554)|superoxide metabolic process (GO:0006801)	cell junction (GO:0030054)|early endosome (GO:0005769)|integral component of membrane (GO:0016021)|invadopodium membrane (GO:0071438)|NADPH oxidase complex (GO:0043020)	metal ion binding (GO:0046872)|NADP binding (GO:0050661)|Rac GTPase binding (GO:0048365)|superoxide-generating NADPH oxidase activity (GO:0016175)|voltage-gated proton channel activity (GO:0030171)			cervix(1)|lung(3)|ovary(1)|skin(2)	7						TTAGCCAAGAACCCCCCTTTTT	0.5																																						ENST00000372966.3																			0				cervix(1)|lung(3)|ovary(1)|skin(2)	7						c.(454-456)gtcfs		NADPH oxidase 1																																				SO:0001589	frameshift_variant	27035				angiogenesis|cell migration|electron transport chain|FADH2 metabolic process|hydrogen peroxide metabolic process|inflammatory response|intracellular pH elevation|positive regulation of integrin biosynthetic process|positive regulation of smooth muscle cell proliferation|positive regulation vascular endothelial growth factor production|respiratory burst|response to pH|signal transduction|superoxide anion generation	cell junction|early endosome|invadopodium membrane|NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|Rac GTPase binding|superoxide-generating NADPH oxidase activity|voltage-gated proton channel activity	g.chrX:100117691_100117692insC	AF127763	CCDS14474.1, CCDS14475.1, CCDS65298.1	Xq22	2008-08-01			ENSG00000007952	ENSG00000007952			7889	protein-coding gene	gene with protein product	"""mitogenic oxidase (pyridine nucleotide-dependent superoxide-generating)"", ""NADPH oxidase homolog-1"", ""NADPH oxidase 1 variant NOH-1L"""	300225				10485709, 10615049	Standard	NM_007052		Approved	NOH1, NOH-1, MOX1, GP91-2	uc004egj.3	Q9Y5S8	OTTHUMG00000022007	ENST00000372966.3:c.456dupG	X.37:g.100117697_100117697dupC	ENSP00000362057:p.Gly152fs		Somatic				NOX1_ENST00000217885.5_Frame_Shift_Ins_p.V152fs|NOX1_ENST00000372960.4_Frame_Shift_Ins_p.V115fs|NOX1_ENST00000372964.1_Frame_Shift_Ins_p.V152fs	p.V152fs	NM_007052.4|NM_013955.2	NP_008983.2|NP_039249.1	WXS	Illumina GAIIx	Phase_I	Q9Y5S8	NOX1_HUMAN			5	660_661	-			152			Ferric oxidoreductase.		A8K836|O95691|Q2PP02	Frame_Shift_Ins	INS	ENST00000372966.3	37	c.455_456insG	CCDS14474.1																																																																																				0.500	NOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057495.1	NM_007052		7	593						7	593	---	---	---	---
PASD1	139135	broad.mit.edu	37	X	150842424	150842425	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chrX:150842424_150842425insC	ENST00000370357.4	+	15	2186_2187	c.1941_1942insC	c.(1942-1944)cccfs	p.P648fs		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	648						nucleus (GO:0005634)	signal transducer activity (GO:0004871)			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					CGTATCAAGGGCCCCCCGTGAA	0.455																																						ENST00000370357.4																			0				breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48						c.(1939-1944)ggccccfs		PAS domain containing 1																																				SO:0001589	frameshift_variant	139135					nucleus	signal transducer activity	g.chrX:150842424_150842425insC	AY270020	CCDS35431.1	Xq28	2009-08-06			ENSG00000166049	ENSG00000166049			20686	protein-coding gene	gene with protein product	"""cancer/testis antigen 63"""					15122589, 15162151	Standard	NM_173493		Approved	CT63	uc004fev.4	Q8IV76	OTTHUMG00000024169	ENST00000370357.4:c.1947dupC	X.37:g.150842430_150842430dupC	ENSP00000359382:p.Pro648fs		Somatic					p.GP647fs	NM_173493.2	NP_775764.2	WXS	Illumina GAIIx	Phase_I	Q8IV76	PASD1_HUMAN			15	2186_2187	+	Acute lymphoblastic leukemia(192;6.56e-05)		647					Q3MNE0|Q69HD7|Q8N7X9	Frame_Shift_Ins	INS	ENST00000370357.4	37	c.1941_1942insC	CCDS35431.1																																																																																				0.455	PASD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060879.2	NM_173493		7	238						7	238	---	---	---	---
SKI	6497	broad.mit.edu	37	1	2235396	2235397	+	Frame_Shift_Ins	INS	-	-	G	rs150033567	byFrequency	TCGA-AS-3777-01A-01D-0966-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b771fd10-af27-4da6-aa24-7ecc2d1474e0	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr1:2235396_2235397insG	ENST00000378536.4	+	4	1401_1402	c.1329_1330insG	c.(1330-1332)gagfs	p.E444fs		NM_003036.3	NP_003027.1	P12755	SKI_HUMAN	SKI proto-oncogene	444					anterior/posterior axis specification (GO:0009948)|BMP signaling pathway (GO:0030509)|bone morphogenesis (GO:0060349)|camera-type eye development (GO:0043010)|camera-type eye morphogenesis (GO:0048593)|cell motility (GO:0048870)|cell proliferation (GO:0008283)|embryonic limb morphogenesis (GO:0030326)|face morphogenesis (GO:0060325)|gene expression (GO:0010467)|lens morphogenesis in camera-type eye (GO:0002089)|myelination in peripheral nervous system (GO:0022011)|myotube differentiation (GO:0014902)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell proliferation (GO:0008285)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of Schwann cell proliferation (GO:0010626)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neural tube closure (GO:0001843)|nose morphogenesis (GO:0043585)|olfactory bulb development (GO:0021772)|palate development (GO:0060021)|positive regulation of DNA binding (GO:0043388)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|protein homotrimerization (GO:0070207)|regulation of apoptotic process (GO:0042981)|retina development in camera-type eye (GO:0060041)|skeletal muscle fiber development (GO:0048741)|SMAD protein signal transduction (GO:0060395)|somatic stem cell maintenance (GO:0035019)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase inhibitor activity (GO:0046811)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)|repressing transcription factor binding (GO:0070491)|SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			central_nervous_system(1)|kidney(2)|lung(5)|prostate(1)|stomach(1)	10	all_cancers(77;0.000139)|all_epithelial(69;4.45e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)			Epithelial(90;2.14e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.72e-29)|GBM - Glioblastoma multiforme(42;2.45e-08)|Colorectal(212;5.33e-05)|COAD - Colon adenocarcinoma(227;0.000228)|Kidney(185;0.00268)|BRCA - Breast invasive adenocarcinoma(365;0.00471)|STAD - Stomach adenocarcinoma(132;0.0147)|KIRC - Kidney renal clear cell carcinoma(229;0.0385)|Lung(427;0.207)		CCCGGGCCCCCGAGCCTCTCGC	0.718																																					Ovarian(177;144 1678 13697 20086 27838 40755)	ENST00000378536.4																			0				central_nervous_system(1)|kidney(2)|lung(5)|prostate(1)|stomach(1)	10						c.(1327-1332)ccagccfs		v-ski avian sarcoma viral oncogene homolog																																				SO:0001589	frameshift_variant	6497				anterior/posterior axis specification|BMP signaling pathway|bone morphogenesis|cell motility|cell proliferation|embryonic limb morphogenesis|face morphogenesis|lens morphogenesis in camera-type eye|myelination in peripheral nervous system|myotube differentiation|negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of fibroblast proliferation|negative regulation of osteoblast differentiation|negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|neural tube closure|nose morphogenesis|olfactory bulb development|palate development|positive regulation of DNA binding|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|protein homotrimerization|regulation of apoptosis|retina development in camera-type eye|skeletal muscle fiber development|SMAD protein signal transduction|somatic stem cell maintenance|transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|PML body|transcription factor complex|transcriptional repressor complex	histone deacetylase inhibitor activity|nucleotide binding|protein domain specific binding|protein kinase binding|repressing transcription factor binding|SMAD binding|transcription corepressor activity|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr1:2235396_2235397insG	X15218	CCDS39.1	1p36.33	2014-06-25	2014-06-25		ENSG00000157933	ENSG00000157933		"""SKI transcriptional corepressors"""	10896	protein-coding gene	gene with protein product		164780	"""v-ski avian sarcoma viral oncogene homolog"""			2762147	Standard	NM_003036		Approved		uc001aja.4	P12755	OTTHUMG00000001407	ENST00000378536.4:c.1330dupG	1.37:g.2235397_2235397dupG	ENSP00000367797:p.Glu444fs		Somatic					p.A444fs	NM_003036.3	NP_003027.1	WXS	Illumina GAIIx	Phase_I	P12755	SKI_HUMAN		Epithelial(90;2.14e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.72e-29)|GBM - Glioblastoma multiforme(42;2.45e-08)|Colorectal(212;5.33e-05)|COAD - Colon adenocarcinoma(227;0.000228)|Kidney(185;0.00268)|BRCA - Breast invasive adenocarcinoma(365;0.00471)|STAD - Stomach adenocarcinoma(132;0.0147)|KIRC - Kidney renal clear cell carcinoma(229;0.0385)|Lung(427;0.207)	4	1401_1402	+	all_cancers(77;0.000139)|all_epithelial(69;4.45e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)		444					Q5SYT7	Frame_Shift_Ins	INS	ENST00000378536.4	37	c.1329_1330insG	CCDS39.1																																																																																				0.718	SKI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004070.1	NM_003036		7	20						7	20	---	---	---	---
SCN1A	6323	broad.mit.edu	37	2	166903319	166903321	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-AS-3777-01A-01D-0966-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b771fd10-af27-4da6-aa24-7ecc2d1474e0	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr2:166903319_166903321delCTG	ENST00000303395.4	-	9	1335_1337	c.1336_1338delCAG	c.(1336-1338)cagdel	p.Q446del	SCN1A_ENST00000423058.2_In_Frame_Del_p.Q446del|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000375405.3_In_Frame_Del_p.Q446del|AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000409050.1_In_Frame_Del_p.Q446del			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	446					adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GTTCAATCATCTGCTGAAATTCG	0.458																																						ENST00000423058.2																			0				NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200						c.(1336-1338)del		sodium channel, voltage-gated, type I, alpha subunit	Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)																																			SO:0001651	inframe_deletion	6323					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166903319_166903321delCTG	AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10585	protein-coding gene	gene with protein product		182389	"""febrile convulsions 3"""	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.1336_1338delCAG	2.37:g.166903322_166903324delCTG	ENSP00000303540:p.Gln446del		Somatic				SCN1A_ENST00000375405.3_In_Frame_Del_p.Q446del|AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000599041.1_RNA|SCN1A_ENST00000409050.1_In_Frame_Del_p.Q446del|SCN1A_ENST00000303395.4_In_Frame_Del_p.Q446del|AC010127.3_ENST00000595268.1_RNA	p.Q446del	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	WXS	Illumina GAIIx	Phase_I	P35498	SCN1A_HUMAN			9	1353_1355	-			446					E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	In_Frame_Del	DEL	ENST00000303395.4	37	c.1336_1338delCAG	CCDS54413.1																																																																																				0.458	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	NM_006920		45	42						45	42	---	---	---	---
FIP1L1	81608	broad.mit.edu	37	4	54319248	54319249	+	Frame_Shift_Del	DEL	AG	AG	-	rs143671659		TCGA-AS-3777-01A-01D-0966-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b771fd10-af27-4da6-aa24-7ecc2d1474e0	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr4:54319248_54319249delAG	ENST00000337488.6	+	16	1641_1642	c.1447_1448delAG	c.(1447-1449)agafs	p.R483fs	FIP1L1_ENST00000306932.6_Frame_Shift_Del_p.R409fs|FIP1L1_ENST00000358575.5_Frame_Shift_Del_p.R477fs|FIP1L1_ENST00000507166.1_Intron	NM_030917.3	NP_112179.2	Q6UN15	FIP1_HUMAN	factor interacting with PAPOLA and CPSF1	483	Arg-rich.|Glu-rich.|Sufficient for interaction with CPSF1 and CSTF3.				mRNA processing (GO:0006397)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.R487fs*3(2)		large_intestine(3)|liver(1)|ovary(1)|skin(1)	6			GBM - Glioblastoma multiforme(3;3.31e-36)|LUSC - Lung squamous cell carcinoma(32;0.0134)			agaACGCACCAGAGAGAGAGAG	0.47			T	PDGFRA	idiopathic hypereosinophilic syndrome																																	ENST00000337488.6				Dom	yes		4	4q12	81608	T	FIP1 like 1 (S. cerevisiae)			L	PDGFRA		idiopathic hypereosinophilic syndrome		2	Deletion - Frameshift(2)	p.R487fs*3(2)	large_intestine(1)|kidney(1)	large_intestine(3)|liver(1)|ovary(1)|skin(1)	6						c.(1447-1449)afs		factor interacting with PAPOLA and CPSF1																																				SO:0001589	frameshift_variant	81608				mRNA processing	nucleus	RNA binding	g.chr4:54319248_54319249delAG	AF161429	CCDS3491.1, CCDS47055.1, CCDS47056.1	4q12	2013-06-18	2013-06-18		ENSG00000145216	ENSG00000145216			19124	protein-coding gene	gene with protein product		607686	"""FIP1 like 1 (S. cerevisiae)"", ""FIP1L1 cleavage and polyadenylation specific factor subunit"""			11230166, 14749727	Standard	NM_030917		Approved	DKFZp586K0717, FIP1	uc003hae.3	Q6UN15	OTTHUMG00000128701	ENST00000337488.6:c.1447_1448delAG	4.37:g.54319258_54319259delAG	ENSP00000336752:p.Arg483fs		Somatic				FIP1L1_ENST00000507166.1_Intron|FIP1L1_ENST00000358575.5_Frame_Shift_Del_p.R477fs|FIP1L1_ENST00000306932.6_Frame_Shift_Del_p.R409fs	p.R483fs	NM_030917.3	NP_112179.2	WXS	Illumina GAIIx	Phase_I	Q6UN15	FIP1_HUMAN	GBM - Glioblastoma multiforme(3;3.31e-36)|LUSC - Lung squamous cell carcinoma(32;0.0134)		16	1641_1642	+			483			Arg-rich.|Glu-rich.|Sufficient for interaction with CPSF1 and CSTF3.		B4DIR3|G3XAD6|Q0VGE0|Q499Y4|Q49AU3|Q7Z608|Q8WVN3|Q96F80|Q9H077	Frame_Shift_Del	DEL	ENST00000337488.6	37	c.1447_1448delAG	CCDS3491.1																																																																																				0.470	FIP1L1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250602.1	NM_030917		8	167						8	167	---	---	---	---
UTP3	57050	broad.mit.edu	37	4	71554620	71554622	+	In_Frame_Del	DEL	GAG	GAG	-	rs369776055		TCGA-AS-3777-01A-01D-0966-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b771fd10-af27-4da6-aa24-7ecc2d1474e0	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr4:71554620_71554622delGAG	ENST00000254803.2	+	1	425_427	c.226_228delGAG	c.(226-228)gagdel	p.E81del		NM_020368.2	NP_065101.1	Q9NQZ2	SAS10_HUMAN	UTP3, small subunit (SSU) processome component, homolog (S. cerevisiae)	81	Glu-rich.				brain development (GO:0007420)|chromatin modification (GO:0016568)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(4)	18			Lung(101;0.235)			ggaggatggcgaggaggaggagg	0.567																																						ENST00000254803.2																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(4)	18						c.(226-228)del		UTP3, small subunit (SSU) processome component, homolog (S. cerevisiae)																																				SO:0001651	inframe_deletion	57050				brain development|chromatin modification|gene silencing	nucleolus		g.chr4:71554620_71554622delGAG	AL136590	CCDS3546.1	4q13.3	2008-02-05			ENSG00000132467	ENSG00000132467			24477	protein-coding gene	gene with protein product	"""disrupter of silencing 10"""	611614				12477932	Standard	NM_020368		Approved	FLJ23256, DKFZp761F222, SAS10, CRLZ1	uc003hfo.3	Q9NQZ2	OTTHUMG00000129911	ENST00000254803.2:c.226_228delGAG	4.37:g.71554629_71554631delGAG	ENSP00000254803:p.Glu81del		Somatic					p.E81del	NM_020368.2	NP_065101.1	WXS	Illumina GAIIx	Phase_I	Q9NQZ2	SAS10_HUMAN	Lung(101;0.235)		1	425_427	+			81			Glu-rich.		Q6FI82	In_Frame_Del	DEL	ENST00000254803.2	37	c.226_228delGAG	CCDS3546.1																																																																																				0.567	UTP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252163.2	NM_020368		7	102						7	102	---	---	---	---
PODXL	5420	broad.mit.edu	37	7	131195806	131195807	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3777-01A-01D-0966-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b771fd10-af27-4da6-aa24-7ecc2d1474e0	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr7:131195806_131195807insG	ENST00000378555.3	-	2	733_734	c.486_487insC	c.(484-489)agcagcfs	p.S163fs	PODXL_ENST00000465001.1_5'Flank|PODXL_ENST00000541194.1_Frame_Shift_Ins_p.S165fs|PODXL_ENST00000322985.9_Frame_Shift_Ins_p.S163fs|PODXL_ENST00000537928.1_Frame_Shift_Ins_p.S163fs			O00592	PODXL_HUMAN	podocalyxin-like	163	Thr-rich.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|epithelial tube formation (GO:0072175)|glomerular visceral epithelial cell development (GO:0072015)|leukocyte migration (GO:0050900)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell-cell adhesion (GO:0022408)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-cell adhesion mediated by integrin (GO:0033634)|regulation of microvillus assembly (GO:0032534)	apical plasma membrane (GO:0016324)|cell body (GO:0044297)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|slit diaphragm (GO:0036057)				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Melanoma(18;0.162)					ACACTGTGGCTGCTTTTCCCCC	0.535																																						ENST00000541194.1																			0				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24						c.(490-495)aggccafs		podocalyxin-like																																				SO:0001589	frameshift_variant	5420				cell adhesion|epithelial tube formation|negative regulation of cell-cell adhesion|positive regulation of cell migration|positive regulation of cell-cell adhesion mediated by integrin|regulation of microvillus assembly	actin cytoskeleton|apical plasma membrane|centrosome|filopodium|integral to plasma membrane|lamellipodium|membrane raft|microvillus membrane|nucleolus|ruffle		g.chr7:131195806_131195807insG		CCDS34755.1, CCDS47714.1	7q32-q33	2008-07-18			ENSG00000128567	ENSG00000128567			9171	protein-coding gene	gene with protein product		602632					Standard	NM_001018111		Approved	PCLP, Gp200, PC	uc003vqx.4	O00592	OTTHUMG00000154918	ENST00000378555.3:c.487dupC	7.37:g.131195807_131195807dupG	ENSP00000367817:p.Ser163fs		Somatic				PODXL_ENST00000322985.9_Frame_Shift_Ins_p.RP162fs|PODXL_ENST00000537928.1_Frame_Shift_Ins_p.RP162fs|PODXL_ENST00000378555.3_Frame_Shift_Ins_p.RP162fs	p.RP164fs	NM_001018111.2	NP_001018121.1	WXS	Illumina GAIIx	Phase_I	O00592	PODXL_HUMAN			2	749_750	-	Melanoma(18;0.162)		162			Thr-rich.		A6NHX8|Q52LZ7|Q53ER6	Frame_Shift_Ins	INS	ENST00000378555.3	37	c.492_493insC	CCDS34755.1																																																																																				0.535	PODXL-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000337627.2	NM_001018111		7	767						7	767	---	---	---	---
MICALCL	84953	broad.mit.edu	37	11	12316384	12316389	+	In_Frame_Del	DEL	CTCCTA	CTCCTA	-	rs3812754|rs542581403|rs199786165	byFrequency	TCGA-AS-3777-01A-01D-0966-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b771fd10-af27-4da6-aa24-7ecc2d1474e0	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr11:12316384_12316389delCTCCTA	ENST00000256186.2	+	3	1697_1702	c.1406_1411delCTCCTA	c.(1405-1413)cctcctaca>cca	p.PT470del		NM_032867.2	NP_116256.2	Q6ZW33	MICLK_HUMAN	MICAL C-terminal like	470	Poly-Pro.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)	mitogen-activated protein kinase binding (GO:0051019)	p.T471delT(2)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30				Epithelial(150;0.00177)		cctcctcctcctcctACAGCGGGAGG	0.573																																						ENST00000256186.2																			2	Deletion - In frame(2)	p.T471delT(2)	upper_aerodigestive_tract(1)|skin(1)	breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30						c.(1405-1413)cca>c		MICAL C-terminal like				494,2594		71,352,1121						-0.7	0.0		dbSNP_107	5	1955,4965		272,1411,1777	no	coding	MICALCL	NM_032867.2		343,1763,2898	A1A1,A1R,RR		28.2514,15.9974,24.4704				2449,7559				SO:0001651	inframe_deletion	84953				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	mitogen-activated protein kinase binding	g.chr11:12316384_12316389delCTCCTA	BK000463	CCDS41620.1	11p15.3	2005-11-01			ENSG00000133808	ENSG00000133808			25933	protein-coding gene	gene with protein product		612355				12110185	Standard	NM_032867		Approved	FLJ14966	uc001mkg.1	Q6ZW33	OTTHUMG00000165777	ENST00000256186.2:c.1406_1411delCTCCTA	11.37:g.12316384_12316389delCTCCTA	ENSP00000256186:p.Pro470_Thr471del		Somatic					p.PPT469del	NM_032867.2	NP_116256.2	WXS	Illumina GAIIx	Phase_I	Q6ZW33	MICLK_HUMAN		Epithelial(150;0.00177)	3	1697_1702	+			469			Poly-Pro.		Q7RTP7|Q96JU6	In_Frame_Del	DEL	ENST00000256186.2	37	c.1406_1411delCTCCTA	CCDS41620.1																																																																																				0.573	MICALCL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386164.1	NM_032867		10	20						10	20	---	---	---	---
EMG1	10436	broad.mit.edu	37	12	7080212	7080213	+	Splice_Site	INS	-	-	C	rs11428482|rs374779752|rs17857448		TCGA-AS-3777-01A-01D-0966-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b771fd10-af27-4da6-aa24-7ecc2d1474e0	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr12:7080212_7080213insC	ENST00000261406.6	+	2	267_268	c.124_125insC	c.(124-126)ttt>tCtt	p.F42fs	PHB2_ENST00000440277.1_5'Flank|PHB2_ENST00000535923.1_5'Flank|PHB2_ENST00000544134.1_5'Flank|PHB2_ENST00000399433.2_5'Flank|PHB2_ENST00000546111.1_5'Flank|EMG1_ENST00000546220.1_3'UTR|PHB2_ENST00000542912.1_5'Flank	NM_006331.7	NP_006322.4			EMG1 N1-specific pseudouridine methyltransferase																		GAGGCCGTAGTTTATTGTGGTG	0.569																																						ENST00000546220.1																			0													EMG1 N1-specific pseudouridine methyltransferase				3746,4		1873,0,2						5.4	1.0		dbSNP_120	28	7902,2		3951,0,1	no	frameshift	EMG1	NM_006331.7		5824,0,3	A1A1,A1R,RR		0.0253,0.1067,0.0515				11648,6				SO:0001630	splice_region_variant	10436				ribosomal small subunit biogenesis	cytoplasm|nucleolus	rRNA (pseudouridine) methyltransferase activity|rRNA binding	g.chr12:7080212_7080213insC	U72514	CCDS73430.1	12p13	2013-05-22	2013-05-22			ENSG00000126749			16912	protein-coding gene	gene with protein product		611531	"""EMG1 nucleolar protein homolog (S. cerevisiae)"""			9074930, 11935223, 19463982	Standard	NM_006331		Approved	C2F, NEP1, Grcc2f	uc001qsh.4	Q92979		ENST00000261406.6:c.124-1->C	12.37:g.7080212_7080213insC			Somatic				U47924.28_ENST00000261406.6_lincRNA|U47924.19_ENST00000564245.1_RNA				WXS	Illumina GAIIx	Phase_I	Q92979	NEP1_HUMAN			0	157_158	+									RNA	INS	ENST00000261406.6	37																																																																																						0.569	EMG1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_006331	Frame_Shift_Ins	8	24						8	24	---	---	---	---
RP11-114H23.1	0	broad.mit.edu	37	12	76082490	76082491	+	lincRNA	INS	-	-	T	rs71276351		TCGA-AS-3777-01A-01D-0966-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b771fd10-af27-4da6-aa24-7ecc2d1474e0	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr12:76082490_76082491insT	ENST00000552856.1	-	0	401				SNORA70_ENST00000516084.2_RNA																							cattctTTTTCTTTTTTTTTTT	0.361																																						ENST00000552856.1																			0																																																			0							g.chr12:76082490_76082491insT																													12.37:g.76082501_76082501dupT			Somatic								WXS	Illumina GAIIx	Phase_I					0	401	-									RNA	INS	ENST00000552856.1	37																																																																																						0.361	RP11-114H23.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000405775.2			7	11						7	11	---	---	---	---
UBC	7316	broad.mit.edu	37	12	125398295	125398296	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-AS-3777-01A-01D-0966-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b771fd10-af27-4da6-aa24-7ecc2d1474e0	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr12:125398295_125398296delAG	ENST00000538617.1	-	3	338_339	c.22_23delCT	c.(22-24)ctgfs	p.L8fs	MIR5188_ENST00000583467.1_RNA|UBC_ENST00000546120.1_Frame_Shift_Del_p.L8fs|UBC_ENST00000536769.1_Frame_Shift_Del_p.L8fs|UBC_ENST00000536661.1_5'UTR|UBC_ENST00000339647.5_Frame_Shift_Del_p.L8fs			P0CG48	UBC_HUMAN	ubiquitin C	388	Ubiquitin-like 1. {ECO:0000255|PROSITE- ProRule:PRU00214}.				activation of MAPK activity (GO:0000187)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|carbohydrate metabolic process (GO:0005975)|cellular response to hypoxia (GO:0071456)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular transport of virus (GO:0075733)|ion transmembrane transport (GO:0034220)|JNK cascade (GO:0007254)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of type I interferon production (GO:0032479)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protease binding (GO:0002020)			breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		CTTACCAGTCAGAGTCTTCACG	0.45																																						ENST00000536769.1																			0				breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(22-24)gfs		ubiquitin C																																				SO:0001589	frameshift_variant	7316				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding	g.chr12:125398295_125398296delAG		CCDS9260.1	12q24.3	2008-09-08			ENSG00000150991	ENSG00000150991			12468	protein-coding gene	gene with protein product	"""polyubiquitin-C"""	191340				1315303, 11872750	Standard	NM_021009		Approved		uc001ugs.4	P0CG48		ENST00000538617.1:c.22_23delCT	12.37:g.125398297_125398298delAG	ENSP00000443053:p.Leu8fs		Somatic				UBC_ENST00000546120.1_Frame_Shift_Del_p.L8fs|UBC_ENST00000339647.5_Frame_Shift_Del_p.L8fs|UBC_ENST00000538617.1_Frame_Shift_Del_p.L8fs|UBC_ENST00000536661.1_5'UTR	p.L8fs			WXS	Illumina GAIIx	Phase_I	P0CG48	UBC_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)	1	1598_1599	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		8			Ubiquitin-like 1.		P02248|P02249|P02250|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Frame_Shift_Del	DEL	ENST00000538617.1	37	c.22_23delCT																																																																																					0.450	UBC-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000400179.1	NM_021009		7	352						7	352	---	---	---	---
POLE	5426	broad.mit.edu	37	12	133220099	133220100	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-AS-3777-01A-01D-0966-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b771fd10-af27-4da6-aa24-7ecc2d1474e0	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr12:133220099_133220100delCA	ENST00000320574.5	-	34	4380_4381	c.4337_4338delTG	c.(4336-4338)gtgfs	p.V1447fs	POLE_ENST00000434528.3_5'Flank|POLE_ENST00000535270.1_Frame_Shift_Del_p.V1420fs	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	1447					base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA synthesis involved in DNA repair (GO:0000731)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	cytoplasm (GO:0005737)|epsilon DNA polymerase complex (GO:0008622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	Cladribine(DB00242)	GTTTATTGACCACACACACACA	0.604								DNA polymerases (catalytic subunits)																														ENST00000320574.5																			0				NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89						c.(4336-4338)gfs	DNA polymerases (catalytic subunits)	polymerase (DNA directed), epsilon, catalytic subunit																																				SO:0001589	frameshift_variant	5426				base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding	g.chr12:133220099_133220100delCA		CCDS9278.1	12q24.3	2014-09-17	2012-05-18		ENSG00000177084	ENSG00000177084		"""DNA polymerases"""	9177	protein-coding gene	gene with protein product	"""DNA polymerase epsilon catalytic subunit A"""	174762	"""polymerase (DNA directed), epsilon"""			8020968	Standard	NM_006231		Approved	POLE1	uc001uks.1	Q07864	OTTHUMG00000168045	ENST00000320574.5:c.4337_4338delTG	12.37:g.133220109_133220110delCA	ENSP00000322570:p.Val1447fs		Somatic				POLE_ENST00000535270.1_Frame_Shift_Del_p.V1420fs	p.V1447fs	NM_006231.2	NP_006222.2	WXS	Illumina GAIIx	Phase_I	Q07864	DPOE1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	34	4380_4381	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)	1447					Q13533|Q86VH9	Frame_Shift_Del	DEL	ENST00000320574.5	37	c.4337_4338delTG	CCDS9278.1																																																																																				0.604	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397689.2	NM_006231		12	614						12	614	---	---	---	---
GOLGA8DP	100132979	broad.mit.edu	37	15	22709277	22709278	+	RNA	INS	-	-	A	rs377506667	byFrequency	TCGA-AS-3777-01A-01D-0966-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b771fd10-af27-4da6-aa24-7ecc2d1474e0	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr15:22709277_22709278insA	ENST00000314246.8	-	0	1157				RN7SL545P_ENST00000495815.2_RNA			Q0D2H9	GOG8D_HUMAN	golgin A8 family, member D, pseudogene							Golgi apparatus (GO:0005794)											CTCTGGATTCCAaaaaaaaaag	0.515													|||unknown(HR)	672	0.134185	0.3185	0.1326	5008	,	,		21907	0.0179		0.0616	False		,,,				2504	0.0808					ENST00000314246.8																			0																																																			100132979							g.chr15:22709277_22709278insA			15q11.2	2014-04-10	2011-04-15	2010-02-12	ENSG00000185182	ENSG00000185182			32376	pseudogene	pseudogene			"""golgi autoantigen, golgin subfamily a, 8D"""	GOLGA8D		12477932	Standard	NR_027407		Approved		uc010axw.2	Q0D2H9	OTTHUMG00000171882		15.37:g.22709287_22709287dupA			Somatic								WXS	Illumina GAIIx	Phase_I					0	1157	-									RNA	INS	ENST00000314246.8	37																																																																																						0.515	GOLGA8DP-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000415613.1	NR_027407		9	150						9	150	---	---	---	---
SCARF1	8578	broad.mit.edu	37	17	1548956	1548957	+	In_Frame_Ins	INS	-	-	AGC	rs142617742|rs371158488	byFrequency	TCGA-AS-3777-01A-01D-0966-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b771fd10-af27-4da6-aa24-7ecc2d1474e0	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr17:1548956_1548957insAGC	ENST00000263071.4	-	1	84_85	c.35_36insGCT	c.(34-36)ctc>ctGCTc	p.12_12L>LL	SCARF1_ENST00000574545.1_5'Flank|SCARF1_ENST00000571272.1_In_Frame_Ins_p.12_12L>LL|SCARF1_ENST00000348987.3_In_Frame_Ins_p.12_12L>LL	NM_003693.2|NM_145350.1	NP_003684.2|NP_663325.1	Q14162	SREC_HUMAN	scavenger receptor class F, member 1	12					cell adhesion (GO:0007155)|cholesterol catabolic process (GO:0006707)|dendrite development (GO:0016358)|neuron remodeling (GO:0016322)|positive regulation of axon regeneration (GO:0048680)|positive regulation of neuron projection development (GO:0010976)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	endocytic vesicle membrane (GO:0030666)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	low-density lipoprotein particle binding (GO:0030169)|scavenger receptor activity (GO:0005044)|transmembrane signaling receptor activity (GO:0004888)			cervix(1)|endometrium(3)|kidney(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		CCCGAGTCCAGAGCAGCAGCAG	0.698														199	0.0397364	0.0741	0.0115	5008	,	,		16590	0.001		0.0199	False		,,,				2504	0.0736					ENST00000263071.4																			0				cervix(1)|endometrium(3)|kidney(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(34-36)ctg>cGCTtg		scavenger receptor class F, member 1			,,	296,3916		17,262,1827					,,	4.0	0.8		dbSNP_119	19	149,8047		4,141,3953	no	coding,coding,coding	SCARF1	NM_145352.2,NM_145350.1,NM_003693.2	,,	21,403,5780	A1A1,A1R,RR		1.818,7.0275,3.5864	,,	,,		445,11963				SO:0001652	inframe_insertion	8578				cell adhesion|neuron remodeling|positive regulation of axon regeneration|receptor-mediated endocytosis	integral to membrane	low-density lipoprotein particle binding|scavenger receptor activity	g.chr17:1548956_1548957insAGC	D63483	CCDS11007.1, CCDS45564.1	17p13.3	2008-07-18			ENSG00000074660	ENSG00000074660			16820	protein-coding gene	gene with protein product	"""scavenger receptor expressed by endothelial cells"", ""acetyl LDL receptor"""	607873				9395444, 8590280	Standard	NM_003693		Approved	SREC, KIAA0149	uc002fsz.2	Q14162	OTTHUMG00000090555	ENST00000263071.4:c.33_35dupGCT	17.37:g.1548963_1548965dupAGC	ENSP00000263071:p.Leu12dup		Somatic				SCARF1_ENST00000348987.3_In_Frame_Ins_p.11_12insR|SCARF1_ENST00000571272.1_In_Frame_Ins_p.11_12insR	p.11_12insR	NM_003693.2|NM_145350.1	NP_003684.2|NP_663325.1	WXS	Illumina GAIIx	Phase_I	Q14162	SREC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	1	84_85	-			11					A8MQ05|O43701|Q8NHD2|Q8NHD3|Q8NHD4|Q8NHD5	In_Frame_Ins	INS	ENST00000263071.4	37	c.35_36insGCT	CCDS11007.1																																																																																				0.698	SCARF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207081.4	NM_003693		8	10						8	10	---	---	---	---
CCDC144B	284047	broad.mit.edu	37	17	18498497	18498498	+	RNA	INS	-	-	A	rs397961350|rs59933375|rs80104188	byFrequency	TCGA-AS-3777-01A-01D-0966-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b771fd10-af27-4da6-aa24-7ecc2d1474e0	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr17:18498497_18498498insA	ENST00000442583.1	-	0	749							Q3MJ40	C144B_HUMAN	coiled-coil domain containing 144B (pseudogene)											NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(6)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	36						CTGCAGGCCTGAAAAAAAAAAA	0.243														2618	0.522764	0.528	0.4683	5008	,	,		15585	0.6756		0.4294	False		,,,				2504	0.4928					ENST00000442583.1																			0				NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(6)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	36																																														284047							g.chr17:18498497_18498498insA	AK093811		17p11.2	2012-11-19	2011-09-02		ENSG00000154874	ENSG00000154874			26704	pseudogene	pseudogene			"""coiled-coil domain containing 144B"""			11997339	Standard	NR_036647		Approved	FLJ36492	uc002guc.2	Q3MJ40	OTTHUMG00000059531		17.37:g.18498508_18498508dupA			Somatic								WXS	Illumina GAIIx	Phase_I					0	749	-								Q6P5Q3|Q8N200	RNA	INS	ENST00000442583.1	37																																																																																						0.243	CCDC144B-006	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000132102.1	NM_182568		2	4						2	4	---	---	---	---
NUFIP2	57532	broad.mit.edu	37	17	27620806	27620808	+	In_Frame_Del	DEL	TTC	TTC	-			TCGA-AS-3777-01A-01D-0966-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b771fd10-af27-4da6-aa24-7ecc2d1474e0	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr17:27620806_27620808delTTC	ENST00000225388.4	-	1	328_330	c.270_272delGAA	c.(268-273)aagaaa>aaa	p.90_91KK>K	NUFIP2_ENST00000579665.1_In_Frame_Del_p.90_91KK>K	NM_020772.2	NP_065823.1	Q7Z417	NUFP2_HUMAN	nuclear fragile X mental retardation protein interacting protein 2	90						cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|polysomal ribosome (GO:0042788)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	24			BRCA - Breast invasive adenocarcinoma(11;0.000457)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)			caGACCTGTTTTCTTCTTCGGCG	0.645																																						ENST00000225388.4																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	24						c.(268-273)aaa>aa		nuclear fragile X mental retardation protein interacting protein 2																																				SO:0001651	inframe_deletion	57532					nucleus|polysomal ribosome	protein binding|RNA binding	g.chr17:27620806_27620808delTTC	AB037742	CCDS32600.1	17q11.1	2006-03-01				ENSG00000108256			17634	protein-coding gene	gene with protein product		609356				12837692, 16407062	Standard	NM_020772		Approved	KIAA1321, MGC117262, PIG1, 182-FIP, FIP-82, 82-FIP	uc002hdy.4	Q7Z417		ENST00000225388.4:c.270_272delGAA	17.37:g.27620812_27620814delTTC	ENSP00000225388:p.Lys91del		Somatic				NUFIP2_ENST00000579665.1_In_Frame_Del_p.KK90del	p.KK90del	NM_020772.2	NP_065823.1	WXS	Illumina GAIIx	Phase_I	Q7Z417	NUFP2_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.000457)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)		1	328_330	-			90					A1L3A6|Q9P2M5	In_Frame_Del	DEL	ENST00000225388.4	37	c.270_272delGAA	CCDS32600.1																																																																																				0.645	NUFIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447015.2	NM_020772		9	260						9	260	---	---	---	---
SERPINB3	6317	broad.mit.edu	37	18	61324536	61324537	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AS-3777-01A-01D-0966-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b771fd10-af27-4da6-aa24-7ecc2d1474e0	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr18:61324536_61324537insT	ENST00000283752.5	-	6	722_723	c.579_580insA	c.(577-582)gaagatfs	p.D194fs	SERPINB3_ENST00000332821.8_Frame_Shift_Ins_p.D194fs|SERPINB11_ENST00000489748.1_RNA	NM_006919.2	NP_008850.1	P29508	SPB3_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 3	194					negative regulation of catalytic activity (GO:0043086)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of peptidase activity (GO:0010466)|negative regulation of proteolysis (GO:0045861)|regulation of proteolysis (GO:0030162)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)|virus receptor activity (GO:0001618)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						TCTTTAGTATCTTCTTTATTAA	0.292																																						ENST00000283752.5																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						c.(577-582)gaatacfs		serpin peptidase inhibitor, clade B (ovalbumin), member 3																																				SO:0001589	frameshift_variant	6317				regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity	g.chr18:61324536_61324537insT	U19568	CCDS11987.1	18q21.3	2014-02-18	2005-08-18		ENSG00000057149	ENSG00000057149		"""Serine (or cysteine) peptidase inhibitors"""	10569	protein-coding gene	gene with protein product		600517	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 3"""	SCC, SCCA1		7724531, 24172014	Standard	NM_006919		Approved	T4-A, HsT1196	uc002lji.3	P29508	OTTHUMG00000060403	ENST00000283752.5:c.580dupA	18.37:g.61324538_61324538dupT	ENSP00000283752:p.Asp194fs		Somatic				SERPINB11_ENST00000489748.1_RNA|SERPINB3_ENST00000332821.8_Frame_Shift_Ins_p.Y194fs	p.Y194fs	NM_006919.2	NP_008850.1	WXS	Illumina GAIIx	Phase_I	P29508	SPB3_HUMAN			6	722_723	-			194					A6NDM2|B2RBT5|B3W5Y6|Q53H28|Q53YB5|Q86VF3|Q86W04|Q8IWL4|Q8IXI3|Q96J21|Q9BYF8	Frame_Shift_Ins	INS	ENST00000283752.5	37	c.579_580insA	CCDS11987.1																																																																																				0.292	SERPINB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133791.1	NM_006919		8	167						8	167	---	---	---	---
ADNP2	22850	broad.mit.edu	37	18	77895551	77895552	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AS-3777-01A-01D-0966-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b771fd10-af27-4da6-aa24-7ecc2d1474e0	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr18:77895551_77895552insT	ENST00000262198.4	+	4	2710_2711	c.2255_2256insT	c.(2254-2259)tgtaagfs	p.K753fs		NM_014913.3	NP_055728.1	Q6IQ32	ADNP2_HUMAN	ADNP homeobox 2	753					cellular response to oxidative stress (GO:0034599)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell death (GO:0060548)|neuron differentiation (GO:0030182)|positive regulation of cell growth (GO:0030307)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		TGTCTGTCTTGTAAGTGCTTGG	0.475																																						ENST00000262198.4																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42						c.(2254-2256)taafs		ADNP homeobox 2																																				SO:0001589	frameshift_variant	22850				cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:77895551_77895552insT	AB020670	CCDS32853.1	18q23	2013-01-07	2007-07-17	2007-07-17	ENSG00000101544	ENSG00000101544		"""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	23803	protein-coding gene	gene with protein product			"""zinc finger protein 508"""	ZNF508			Standard	NM_014913		Approved	KIAA0863	uc002lnw.3	Q6IQ32	OTTHUMG00000172535	ENST00000262198.4:c.2256dupT	18.37:g.77895552_77895552dupT	ENSP00000262198:p.Lys753fs		Somatic					p.*752fs	NM_014913.3	NP_055728.1	WXS	Illumina GAIIx	Phase_I	Q6IQ32	ADNP2_HUMAN		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)	4	2710_2711	+		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)	752					A8K951|O94943|Q9H9P3	Frame_Shift_Ins	INS	ENST00000262198.4	37	c.2255_2256insT	CCDS32853.1																																																																																				0.475	ADNP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418979.1	NM_014913		14	344						14	344	---	---	---	---
FAM98C	147965	broad.mit.edu	37	19	38899502	38899504	+	In_Frame_Del	DEL	AAG	AAG	-	rs372349446		TCGA-AS-3777-01A-01D-0966-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b771fd10-af27-4da6-aa24-7ecc2d1474e0	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr19:38899502_38899504delAAG	ENST00000252530.5	+	8	1049_1051	c.1030_1032delAAG	c.(1030-1032)aagdel	p.K349del	FAM98C_ENST00000343358.7_In_Frame_Del_p.K267del|FAM98C_ENST00000588262.1_3'UTR	NM_174905.3	NP_777565.3	Q17RN3	FA98C_HUMAN	family with sequence similarity 98, member C	349										endometrium(2)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(60;3.95e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			TTGGGGTCGCAAGAAGAAGAAGA	0.606																																						ENST00000252530.5																			0				endometrium(2)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	15						c.(1030-1032)del		family with sequence similarity 98, member C				414,186,2888		21,2,370,1,182,1168						-2.6	0.1		dbSNP_134	37	186,506,7042		7,0,172,3,500,3185	no	codingComplex	FAM98C	NM_174905.3		28,2,542,4,682,4353	A1A1,A1A2,A1R,A2A2,A2R,RR		8.9475,17.2018,11.5131				600,692,9930				SO:0001651	inframe_deletion	147965							g.chr19:38899502_38899504delAAG		CCDS42562.1	19q13.2	2008-02-05				ENSG00000130244			27119	protein-coding gene	gene with protein product						12477932	Standard	NM_174905		Approved	FLJ44669	uc002oin.1	Q17RN3		ENST00000252530.5:c.1030_1032delAAG	19.37:g.38899511_38899513delAAG	ENSP00000252530:p.Lys349del		Somatic				FAM98C_ENST00000343358.7_In_Frame_Del_p.K267del|FAM98C_ENST00000588262.1_3'UTR	p.K349del	NM_174905.3	NP_777565.3	WXS	Illumina GAIIx	Phase_I	Q17RN3	FA98C_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		8	1049_1051	+	all_cancers(60;3.95e-06)		349					A6NMW3|Q66K45	In_Frame_Del	DEL	ENST00000252530.5	37	c.1030_1032delAAG	CCDS42562.1																																																																																				0.606	FAM98C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000459222.1	NM_174905		10	132						10	132	---	---	---	---
RSPH6A	81492	broad.mit.edu	37	19	46299147	46299149	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-AS-3777-01A-01D-0966-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b771fd10-af27-4da6-aa24-7ecc2d1474e0	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr19:46299147_46299149delCCT	ENST00000221538.3	-	6	2274_2276	c.2132_2134delAGG	c.(2131-2136)gagggc>ggc	p.E711del	RSPH6A_ENST00000597055.1_3'UTR|RSPH6A_ENST00000600188.1_In_Frame_Del_p.E447del	NM_030785.3	NP_110412.1	Q9H0K4	RSH6A_HUMAN	radial spoke head 6 homolog A (Chlamydomonas)	711	Glu-rich.					intracellular (GO:0005622)				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						GTctcctcgccctcctcctcctc	0.557																																						ENST00000221538.3																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						c.(2131-2136)ggc>g		radial spoke head 6 homolog A (Chlamydomonas)																																				SO:0001651	inframe_deletion	81492					intracellular		g.chr19:46299147_46299149delCCT	AL136761	CCDS12675.1	19q13.3	2010-02-17	2009-11-18	2009-11-18	ENSG00000104941	ENSG00000104941			14241	protein-coding gene	gene with protein product		607548	"""radial spokehead-like 1"""	RSHL1		11237735	Standard	NM_030785		Approved	RSP4, RSP6, RSPH4B	uc002pdm.3	Q9H0K4		ENST00000221538.3:c.2132_2134delAGG	19.37:g.46299156_46299158delCCT	ENSP00000221538:p.Glu711del		Somatic				RSPH6A_ENST00000597055.1_3'UTR|RSPH6A_ENST00000600188.1_In_Frame_Del_p.EG447del	p.EG711del	NM_030785.3	NP_110412.1	WXS	Illumina GAIIx	Phase_I	Q9H0K4	RSH6A_HUMAN			6	2274_2276	-			711			Glu-rich.		Q53FE2|Q6PEZ9	In_Frame_Del	DEL	ENST00000221538.3	37	c.2132_2134delAGG	CCDS12675.1																																																																																				0.557	RSPH6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461657.1			9	336						9	336	---	---	---	---
