#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
TXLNB	167838	broad.mit.edu	37	6	139563774	139563774	+	Silent	SNP	G	G	A			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr6:139563774G>A	ENST00000358430.3	-	10	2176	c.1944C>T	c.(1942-1944)tgC>tgT	p.C648C	RP1-225E12.3_ENST00000585874.1_RNA	NM_153235.3	NP_694967.3	Q8N3L3	TXLNB_HUMAN	taxilin beta	648						cytoplasm (GO:0005737)				breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37				OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235)		TACTGGGCTCGCATGCAGGCA	0.652																																						ENST00000358430.3																			0				breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37						c.(1942-1944)tgC>tgT		taxilin beta							62.0	67.0	65.0					6																	139563774		2203	4300	6503	SO:0001819	synonymous_variant	167838					cytoplasm		g.chr6:139563774G>A		CCDS34545.1	6q23.3	2008-02-05	2005-07-29	2005-07-29	ENSG00000164440	ENSG00000164440			21617	protein-coding gene	gene with protein product		611438	"""chromosome 6 open reading frame 198"""	C6orf198		15184072	Standard	NM_153235		Approved	DKFZp451A175, MDP77, dJ522B19.2	uc021zfy.1	Q8N3L3	OTTHUMG00000015688	ENST00000358430.3:c.1944C>T	6.37:g.139563774G>A						RP1-225E12.3_ENST00000585874.1_RNA	p.C648C	NM_153235.3	NP_694967.3	Q8N3L3	TXLNB_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235)	10	2176	-			648					Q5VTF3|Q76L25|Q86T52|Q8N3S2	Silent	SNP	ENST00000358430.3	37	c.1944C>T	CCDS34545.1																																																																																				0.652	TXLNB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042458.1	NM_153235		16	650	0	0	0	1	0	16	650				
KRT13	3860	broad.mit.edu	37	17	39658808	39658808	+	Silent	SNP	G	G	A			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr17:39658808G>A	ENST00000246635.3	-	6	1108	c.1062C>T	c.(1060-1062)tgC>tgT	p.C354C	KRT13_ENST00000336861.3_Silent_p.C354C|AC019349.5_ENST00000411759.1_RNA|KRT13_ENST00000587544.1_Silent_p.C354C|KRT13_ENST00000587118.1_5'Flank	NM_153490.2	NP_705694	P13646	K1C13_HUMAN	keratin 13	354	Coil 2.|Rod.				cellular response to retinoic acid (GO:0071300)|cytoskeleton organization (GO:0007010)|response to radiation (GO:0009314)|tongue morphogenesis (GO:0043587)	extracellular vesicular exosome (GO:0070062)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	33		Breast(137;0.000286)				GGGCATAGCGGCACTCCGTCT	0.607																																						ENST00000246635.3																			0				NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	33						c.(1060-1062)tgC>tgT		keratin 13							108.0	93.0	98.0					17																	39658808		2203	4300	6503	SO:0001819	synonymous_variant	3860				epidermis development	intermediate filament	structural molecule activity	g.chr17:39658808G>A		CCDS11396.1, CCDS11397.1	17q21.2	2013-06-20			ENSG00000171401	ENSG00000171401		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6415	protein-coding gene	gene with protein product	"""keratin, type I cytoskeletal 13"", ""cytokeratin 13"""	148065				16831889	Standard	NM_153490		Approved	K13, CK13, MGC3781, MGC161462	uc002hwu.1	P13646	OTTHUMG00000133434	ENST00000246635.3:c.1062C>T	17.37:g.39658808G>A						KRT13_ENST00000587544.1_Silent_p.C354C|KRT13_ENST00000336861.3_Silent_p.C354C	p.C354C	NM_153490.2	NP_705694.2	P13646	K1C13_HUMAN			6	1108	-		Breast(137;0.000286)	354			Coil 2.|Rod.		Q53G54|Q6AZK5|Q8N240	Silent	SNP	ENST00000246635.3	37	c.1062C>T	CCDS11396.1																																																																																				0.607	KRT13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257297.1	NM_153490		6	570	0	0	0	1	0	6	570				
FRG1B	284802	broad.mit.edu	37	20	29625947	29625947	+	Missense_Mutation	SNP	T	T	C			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr20:29625947T>C	ENST00000278882.3	+	5	571	c.191T>C	c.(190-192)aTt>aCt	p.I64T	FRG1B_ENST00000439954.2_Missense_Mutation_p.I69T|FRG1B_ENST00000358464.4_Missense_Mutation_p.I64T			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	64								p.I64T(4)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TCAGATGCAATTGGACCAAGA	0.343																																						ENST00000278882.3																			4	Substitution - Missense(4)	p.I64T(4)	urinary_tract(2)|prostate(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(190-192)aTt>aCt																																						SO:0001583	missense	0							g.chr20:29625947T>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.191T>C	20.37:g.29625947T>C	ENSP00000278882:p.Ile64Thr					FRG1B_ENST00000358464.4_Missense_Mutation_p.I64T|FRG1B_ENST00000439954.2_Missense_Mutation_p.I69T	p.I64T							5	571	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.191T>C		.	.	.	.	.	.	.	.	.	.	t	11.16	1.557441	0.27827	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.53640	0.61	1.68	1.68	0.24146	.	0.048324	0.85682	N	0.000000	T	0.39279	0.1072	.	.	.	0.50313	D	0.999869	B	0.11235	0.004	B	0.30943	0.122	T	0.37549	-0.9701	9	0.62326	D	0.03	.	7.3757	0.26827	0.0:0.0:0.0:1.0	.	69	F5H5R5	.	T	64;69;64	ENSP00000408863:I69T	ENSP00000278882:I64T	I	+	2	0	FRG1B	28239608	1.000000	0.71417	0.998000	0.56505	0.053000	0.15095	6.623000	0.74238	1.028000	0.39785	0.155000	0.16302	ATT		0.343	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		12	435	0	0	0	1	0	12	435				
ZNF845	91664	broad.mit.edu	37	19	53856702	53856702	+	Missense_Mutation	SNP	G	G	A	rs200114728	byFrequency	TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr19:53856702G>A	ENST00000595091.1	+	5	2993	c.2774G>A	c.(2773-2775)cGt>cAt	p.R925H	ZNF845_ENST00000458035.1_Missense_Mutation_p.R925H			Q96IR2	ZN845_HUMAN	zinc finger protein 845	925					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R925H(3)		endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						AAAACCTTCCGTCACAATTCA	0.363													.|||	267	0.0533147	0.0484	0.0562	5008	,	,		21751	0.0466		0.0915	False		,,,				2504	0.0256					ENST00000458035.1																			3	Substitution - Missense(3)	p.R925H(3)	kidney(3)	endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						c.(2773-2775)cGt>cAt		zinc finger protein 845							33.0	30.0	31.0					19																	53856702		692	1591	2283	SO:0001583	missense	91664				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53856702G>A	BC007307	CCDS46170.1	19q13.42	2013-01-08			ENSG00000213799	ENSG00000213799		"""Zinc fingers, C2H2-type"", ""-"""	25112	protein-coding gene	gene with protein product							Standard	NM_138374		Approved		uc010ydv.1	Q96IR2		ENST00000595091.1:c.2774G>A	19.37:g.53856702G>A	ENSP00000470005:p.Arg925His					ZNF845_ENST00000595091.1_Missense_Mutation_p.R925H	p.R925H	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN			4	2891	+			925						Missense_Mutation	SNP	ENST00000595091.1	37	c.2774G>A	CCDS46170.1	.	.	.	.	.	.	.	.	.	.	G	5.812	0.334080	0.11013	.	.	ENSG00000213799	ENST00000458035;ENST00000427984	T	0.36157	1.27	2.0	-4.0	0.04057	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.42585	0.1209	L	0.58302	1.8	0.09310	N	1	D	0.55800	0.973	P	0.53760	0.734	T	0.43925	-0.9361	9	0.51188	T	0.08	.	10.7803	0.46374	0.0:0.6804:0.1821:0.1375	.	925	Q96IR2	ZN845_HUMAN	H	925;841	ENSP00000388311:R925H	ENSP00000412086:R841H	R	+	2	0	ZNF845	58548514	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-7.662000	0.00032	-1.603000	0.01597	-0.499000	0.04595	CGT		0.363	ZNF845-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464359.1	XM_039908		5	156	0	0	0	1	0	5	156				
DHX9	1660	broad.mit.edu	37	1	182812436	182812436	+	Missense_Mutation	SNP	T	T	G			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr1:182812436T>G	ENST00000367549.3	+	3	229	c.119T>G	c.(118-120)gTg>gGg	p.V40G		NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9	40	DRBM 1. {ECO:0000255|PROSITE- ProRule:PRU00266}.|Interaction with CREBBP.				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)	p.V40G(8)		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						AAGGTTCAGGTGGAAGGTTAT	0.333																																					Colon(69;210 1162 3697 13559 39565)	ENST00000367549.3																			8	Substitution - Missense(8)	p.V40G(8)	lung(5)|endometrium(1)|kidney(1)|central_nervous_system(1)	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.(118-120)gTg>gGg		DEAH (Asp-Glu-Ala-His) box helicase 9							54.0	51.0	52.0					1																	182812436		1803	4059	5862	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.chr1:182812436T>G	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.119T>G	1.37:g.182812436T>G	ENSP00000356520:p.Val40Gly						p.V40G	NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN			3	229	+			40			DRBM 1.|Interaction with CREBBP.		B2RNV4|Q05CI5|Q12803|Q32Q22|Q5VY62|Q6PD69|Q99556	Missense_Mutation	SNP	ENST00000367549.3	37	c.119T>G	CCDS41444.1	.	.	.	.	.	.	.	.	.	.	T	22.5	4.303744	0.81136	.	.	ENSG00000135829	ENST00000399175;ENST00000367549	D	0.81996	-1.56	5.63	5.63	0.86233	Double-stranded RNA-binding (3);Double-stranded RNA-binding-like (1);	0.000000	0.85682	D	0.000000	D	0.93255	0.7851	M	0.94142	3.5	0.80722	D	1	D	0.67145	0.996	D	0.70716	0.97	D	0.94934	0.8085	10	0.87932	D	0	.	15.1117	0.72362	0.0:0.0:0.0:1.0	.	40	Q08211	DHX9_HUMAN	G	40	ENSP00000356520:V40G	ENSP00000356520:V40G	V	+	2	0	DHX9	181079059	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	7.285000	0.78660	2.263000	0.75096	0.533000	0.62120	GTG		0.333	DHX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085522.2	NM_030588		10	118	0	0	0	1	0	10	118				
C1QTNF7	114905	broad.mit.edu	37	4	15444115	15444115	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr4:15444115G>A	ENST00000444304.2	+	3	888	c.562G>A	c.(562-564)Gct>Act	p.A188T	C1QTNF7_ENST00000429690.1_Missense_Mutation_p.A188T|C1QTNF7_ENST00000295297.4_Missense_Mutation_p.A195T			Q9BXJ2	C1QT7_HUMAN	C1q and tumor necrosis factor related protein 7	188	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				protein homooligomerization (GO:0051260)	collagen trimer (GO:0005581)|extracellular space (GO:0005615)				endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|stomach(1)	16						GTTCATCTGTGCTTTCCCAGG	0.438																																						ENST00000295297.4																			0				endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|stomach(1)	16						c.(583-585)Gct>Act		C1q and tumor necrosis factor related protein 7							152.0	166.0	161.0					4																	15444115		2203	4300	6503	SO:0001583	missense	114905					collagen		g.chr4:15444115G>A	AF329839	CCDS3414.1, CCDS47025.1	4p15.3	2008-08-29			ENSG00000163145	ENSG00000163145			14342	protein-coding gene	gene with protein product							Standard	NM_001135170		Approved	CTRP7	uc003gnp.3	Q9BXJ2	OTTHUMG00000097095	ENST00000444304.2:c.562G>A	4.37:g.15444115G>A	ENSP00000388914:p.Ala188Thr					C1QTNF7_ENST00000444304.2_Missense_Mutation_p.A188T|C1QTNF7_ENST00000429690.1_Missense_Mutation_p.A188T	p.A195T	NM_001135170.1	NP_001128642.1	Q9BXJ2	C1QT7_HUMAN			3	842	+			188			C1q.		B2RBT3|J3KPW3	Missense_Mutation	SNP	ENST00000444304.2	37	c.583G>A	CCDS3414.1	.	.	.	.	.	.	.	.	.	.	G	18.59	3.656712	0.67586	.	.	ENSG00000163145	ENST00000295297;ENST00000429690;ENST00000444304	T;T;T	0.74842	-0.88;-0.88;-0.88	5.8	5.8	0.92144	Tumour necrosis factor-like (2);Complement C1q protein (4);	0.052703	0.85682	D	0.000000	T	0.72669	0.3489	N	0.21617	0.685	0.80722	D	1	P	0.51240	0.943	P	0.51516	0.672	T	0.69665	-0.5084	9	.	.	.	.	20.0545	0.97645	0.0:0.0:1.0:0.0	.	188	Q9BXJ2	C1QT7_HUMAN	T	195;188;188	ENSP00000295297:A195T;ENSP00000410722:A188T;ENSP00000388914:A188T	.	A	+	1	0	C1QTNF7	15053213	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.830000	0.99415	2.748000	0.94277	0.655000	0.94253	GCT		0.438	C1QTNF7-002	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000250891.2			48	838	0	0	0	1	0	48	838				
PHF21B	112885	broad.mit.edu	37	22	45312324	45312324	+	Missense_Mutation	SNP	C	C	T	rs374291941		TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr22:45312324C>T	ENST00000313237.5	-	4	550	c.400G>A	c.(400-402)Gcc>Acc	p.A134T	PHF21B_ENST00000396103.3_Missense_Mutation_p.A134T|PHF21B_ENST00000447824.3_Missense_Mutation_p.A122T|PHF21B_ENST00000404079.2_Missense_Mutation_p.A122T|PHF21B_ENST00000403565.1_5'UTR	NM_138415.4	NP_612424.1	Q96EK2	PF21B_HUMAN	PHD finger protein 21B	134							zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(14)|ovary(2)|prostate(1)|skin(2)	25		all_neural(38;0.00802)|Glioma(61;0.0353)|Ovarian(80;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0203)		GCGGGCTCGGCGAGGGCCTGG	0.726																																						ENST00000313237.5																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(14)|ovary(2)|prostate(1)|skin(2)	25						c.(400-402)Gcc>Acc		PHD finger protein 21B		C	THR/ALA,THR/ALA,THR/ALA	0,4378		0,0,2189	16.0	21.0	19.0		400,364,400	0.2	0.2	22		19	2,8542		0,2,4270	no	missense,missense,missense	PHF21B	NM_138415.4,NM_001242450.1,NM_001135862.2	58,58,58	0,2,6459	TT,TC,CC		0.0234,0.0,0.0155	benign,benign,benign	134/532,122/478,134/490	45312324	2,12920	2189	4272	6461	SO:0001583	missense	112885						zinc ion binding	g.chr22:45312324C>T	AK091480	CCDS14061.1, CCDS56234.1, CCDS63504.1	22q13.31	2013-01-28			ENSG00000056487	ENSG00000056487		"""Zinc fingers, PHD-type"""	25161	protein-coding gene	gene with protein product			"""PHD finger protein 4"""	PHF4		12477932	Standard	NM_138415		Approved	BHC80L, FLJ34161	uc011aql.2	Q96EK2	OTTHUMG00000151199	ENST00000313237.5:c.400G>A	22.37:g.45312324C>T	ENSP00000324403:p.Ala134Thr					PHF21B_ENST00000396103.3_Missense_Mutation_p.A134T|PHF21B_ENST00000404079.2_Missense_Mutation_p.A122T|PHF21B_ENST00000447824.3_Missense_Mutation_p.A122T|PHF21B_ENST00000403565.1_5'UTR	p.A134T	NM_138415.4	NP_612424.1	Q96EK2	PF21B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0203)	4	550	-		all_neural(38;0.00802)|Glioma(61;0.0353)|Ovarian(80;0.0731)	134					B0QYW3|B0QYW4|B3KRU4|B7Z4F8|Q5TFL2|Q6ICC0	Missense_Mutation	SNP	ENST00000313237.5	37	c.400G>A	CCDS14061.1	.	.	.	.	.	.	.	.	.	.	C	6.580	0.475266	0.12521	0.0	2.34E-4	ENSG00000056487	ENST00000313237;ENST00000396103;ENST00000404079;ENST00000447824;ENST00000420689	D;T;T;T;T	0.82167	-1.58;-1.49;-1.49;1.51;0.84	4.68	0.208	0.15221	.	0.598227	0.16002	N	0.234261	T	0.66607	0.2806	L	0.29908	0.895	0.20074	N	0.999932	B;B;B;B	0.12013	0.003;0.004;0.002;0.005	B;B;B;B	0.09377	0.004;0.002;0.002;0.004	T	0.46830	-0.9163	10	0.11182	T	0.66	-4.4072	6.0924	0.20001	0.0:0.5743:0.1259:0.2999	.	122;134;122;134	B7Z657;Q96EK2-3;B7Z4F8;Q96EK2	.;.;.;PF21B_HUMAN	T	134;134;122;122;122	ENSP00000324403:A134T;ENSP00000379410:A134T;ENSP00000385105:A122T;ENSP00000388619:A122T;ENSP00000401294:A122T	ENSP00000324403:A134T	A	-	1	0	PHF21B	43690988	0.001000	0.12720	0.237000	0.24090	0.423000	0.31445	-0.245000	0.08890	-0.031000	0.13781	-0.136000	0.14681	GCC		0.726	PHF21B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321731.2	NM_138415		10	125	0	0	0	1	0	10	125				
ATP8B2	57198	broad.mit.edu	37	1	154306722	154306722	+	Silent	SNP	C	C	T	rs201913757		TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr1:154306722C>T	ENST00000368489.3	+	10	828	c.828C>T	c.(826-828)ttC>ttT	p.F276F	ATP8B2_ENST00000341822.2_Silent_p.F262F|ATP8B2_ENST00000368487.3_Silent_p.F243F|ATP8B2_ENST00000426445.1_3'UTR	NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 2	262					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)		IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			AGTGGTGCTTCGGGCTGGTCA	0.542																																						ENST00000368489.3																		IL6R/ATP8B2(2)	0				breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51						c.(826-828)ttC>ttT		ATPase, aminophospholipid transporter, class I, type 8B, member 2							141.0	144.0	143.0					1																	154306722		2203	4300	6503	SO:0001819	synonymous_variant	57198				ATP biosynthetic process	plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr1:154306722C>T	AB032963	CCDS1066.1, CCDS41405.1	1q21.3	2012-03-09	2012-03-09		ENSG00000143515	ENSG00000143515		"""ATPases / P-type"""	13534	protein-coding gene	gene with protein product		605867	"""ATPase, class I, type 8B, member 2"""			10574461, 11015572	Standard	NM_020452		Approved	ATPID, KIAA1137	uc001fex.3	P98198	OTTHUMG00000035979	ENST00000368489.3:c.828C>T	1.37:g.154306722C>T						ATP8B2_ENST00000426445.1_3'UTR|ATP8B2_ENST00000368487.3_Silent_p.F243F|ATP8B2_ENST00000341822.2_Silent_p.F262F	p.F276F	NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		10	828	+	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		262					B4E3P4|Q6NT69|Q7Z486|Q96I43|Q96NQ7	Silent	SNP	ENST00000368489.3	37	c.828C>T	CCDS1066.1																																																																																				0.542	ATP8B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087658.2	NM_020452		36	770	0	0	0	1	0	36	770				
POTEC	388468	broad.mit.edu	37	18	14542693	14542693	+	Silent	SNP	C	C	T	rs371316587		TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr18:14542693C>T	ENST00000358970.5	-	1	452	c.453G>A	c.(451-453)aaG>aaA	p.K151K	POTEC_ENST00000389891.4_5'UTR	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	151								p.K151K(2)		NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						TTCTGGGGACCTTACCCCACC	0.592																																						ENST00000358970.5																			2	Substitution - coding silent(2)	p.K151K(2)	lung(1)|endometrium(1)	NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						c.(451-453)aaG>aaA		POTE ankyrin domain family, member C							172.0	158.0	163.0					18																	14542693		692	1591	2283	SO:0001819	synonymous_variant	388468							g.chr18:14542693C>T	BX649118	CCDS45835.1	18p11.21	2013-01-10	2008-11-26	2008-11-26	ENSG00000183206	ENSG00000183206		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33894	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 6"""		"""ANKRD26-like family B, member 2"""	A26B2			Standard	NM_001137671		Approved	POTE18, POTE-18, DKFZp686J0529, CT104.6	uc010dln.3	B2RU33	OTTHUMG00000162963	ENST00000358970.5:c.453G>A	18.37:g.14542693C>T						POTEC_ENST00000389891.4_5'UTR	p.K151K	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN			1	452	-			151						Silent	SNP	ENST00000358970.5	37	c.453G>A	CCDS45835.1																																																																																				0.592	POTEC-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371179.1	XM_496269		5	526	0	0	0	1	0	5	526				
CSAG4	100130935	broad.mit.edu	37	X	151896231	151896231	+	RNA	SNP	A	A	G			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chrX:151896231A>G	ENST00000361201.4	-	0	499					NR_073432.1				CSAG family, member 4 (pseudogene)											endometrium(2)|kidney(2)|lung(1)	5						GAGTGGCTGGATAGTGTTGGC	0.517																																						ENST00000361201.4																			0				endometrium(2)|kidney(2)|lung(1)	5																																														0							g.chrX:151896231A>G	BC013171		Xq28	2014-01-21	2012-04-19		ENSG00000242599	ENSG00000242599			20923	pseudogene	pseudogene			"""CSAG family, member 4"""				Standard	NR_073432		Approved				OTTHUMG00000022646		X.37:g.151896231A>G								NR_073432.1						0	499	-									RNA	SNP	ENST00000361201.4	37																																																																																						0.517	CSAG4-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000058758.2			16	198	0	0	0	1	0	16	198				
CNTNAP4	85445	broad.mit.edu	37	16	76486445	76486445	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr16:76486445C>T	ENST00000476707.1	+	7	1260	c.1121C>T	c.(1120-1122)cCc>cTc	p.P374L	CNTNAP4_ENST00000377504.4_Missense_Mutation_p.P322L|CNTNAP4_ENST00000478060.1_Missense_Mutation_p.P298L|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000307431.8_Missense_Mutation_p.P370L			Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	371					cell adhesion (GO:0007155)|regulation of grooming behavior (GO:2000821)|regulation of synaptic transmission, dopaminergic (GO:0032225)|regulation of synaptic transmission, GABAergic (GO:0032228)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|presynaptic membrane (GO:0042734)				breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						CAATCTATGCCCGTGACTTTT	0.393																																						ENST00000307431.8																			0				breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						c.(1108-1110)cCc>cTc		contactin associated protein-like 4							97.0	96.0	96.0					16																	76486445		2198	4300	6498	SO:0001583	missense	85445				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr16:76486445C>T	AB051550	CCDS10924.1, CCDS10924.2, CCDS73915.1	16q23.1	2008-02-05			ENSG00000152910	ENSG00000152910			18747	protein-coding gene	gene with protein product		610518				12093160	Standard	NM_033401		Approved	CASPR4, KIAA1763	uc010chb.1	Q9C0A0	OTTHUMG00000137617	ENST00000476707.1:c.1121C>T	16.37:g.76486445C>T	ENSP00000417628:p.Pro374Leu					CNTNAP4_ENST00000476707.1_Missense_Mutation_p.P374L|CNTNAP4_ENST00000478060.1_Missense_Mutation_p.P298L|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.P322L	p.P370L	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN			9	1494	+			371					E9PFZ6|Q86YZ7	Missense_Mutation	SNP	ENST00000476707.1	37	c.1109C>T		.	.	.	.	.	.	.	.	.	.	C	21.5	4.161570	0.78226	.	.	ENSG00000152910	ENST00000307431;ENST00000377504;ENST00000478060;ENST00000476707	T;T;T;T	0.79247	-1.25;-1.25;-1.25;-1.25	5.52	5.52	0.82312	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	0.000000	0.41294	D	0.000901	D	0.89192	0.6645	.	.	.	0.80722	D	1	D;D;P;D	0.89917	0.996;0.984;0.937;1.0	D;D;P;D	0.97110	0.977;0.909;0.533;1.0	D	0.89667	0.3881	9	0.87932	D	0	.	19.6434	0.95767	0.0:1.0:0.0:0.0	.	298;374;346;371	E9PFZ6;E9PDN6;Q96M80;Q9C0A0	.;.;.;CNTP4_HUMAN	L	370;322;298;374	ENSP00000306893:P370L;ENSP00000439733:P322L;ENSP00000418741:P298L;ENSP00000417628:P374L	ENSP00000306893:P370L	P	+	2	0	CNTNAP4	75043946	1.000000	0.71417	1.000000	0.80357	0.817000	0.46193	5.376000	0.66178	2.880000	0.98712	0.655000	0.94253	CCC		0.393	CNTNAP4-005	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000348216.1	NM_033401		20	357	0	0	0	1	0	20	357				
F5	2153	broad.mit.edu	37	1	169510463	169510463	+	Missense_Mutation	SNP	A	A	G			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr1:169510463A>G	ENST00000367797.3	-	13	4066	c.3865T>C	c.(3865-3867)Ttc>Ctc	p.F1289L	F5_ENST00000367796.3_Missense_Mutation_p.F1294L	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	1289	35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.|B.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	GTCTGGCTGAAGTCTAGAGAA	0.517																																						ENST00000367796.3																			0				NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128						c.(3880-3882)Ttc>Ctc		coagulation factor V (proaccelerin, labile factor)	Drotrecogin alfa(DB00055)						220.0	242.0	235.0					1																	169510463		2203	4300	6503	SO:0001583	missense	2153				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity	g.chr1:169510463A>G	M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.3865T>C	1.37:g.169510463A>G	ENSP00000356771:p.Phe1289Leu					F5_ENST00000367797.3_Missense_Mutation_p.F1289L	p.F1294L			P12259	FA5_HUMAN			13	4081	-	all_hematologic(923;0.208)		1289			35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.|B.		A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Missense_Mutation	SNP	ENST00000367797.3	37	c.3880T>C	CCDS1281.1	.	.	.	.	.	.	.	.	.	.	G	1.760	-0.487165	0.04352	.	.	ENSG00000198734	ENST00000367797;ENST00000367796	T;T	0.31247	1.5;1.5	5.07	-0.37	0.12530	.	1.074150	0.07077	N	0.836436	T	0.01287	0.0042	N	0.00368	-1.59	0.19300	N	0.999977	B	0.02656	0.0	B	0.01281	0.0	T	0.34650	-0.9820	9	0.06891	T	0.86	.	1.8604	0.03187	0.3104:0.1296:0.4342:0.1258	.	1289	P12259	FA5_HUMAN	L	1289;1294	ENSP00000356771:F1289L;ENSP00000356770:F1294L	ENSP00000356770:F1294L	F	-	1	0	F5	167777087	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-0.944000	0.03913	-0.545000	0.06224	-0.215000	0.12644	TTC		0.517	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1	NM_000130		7	1165	0	0	0	1	0	7	1165				
FRG1B	284802	broad.mit.edu	37	20	29625941	29625941	+	Missense_Mutation	SNP	A	A	T	rs558255572		TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr20:29625941A>T	ENST00000278882.3	+	5	565	c.185A>T	c.(184-186)gAt>gTt	p.D62V	FRG1B_ENST00000439954.2_Missense_Mutation_p.D67V|FRG1B_ENST00000358464.4_Missense_Mutation_p.D62V			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	62								p.D62V(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGGCATTCAGATGCAATTGGA	0.333													.|||	1	0.000199681	0.0	0.0014	5008	,	,		30607	0.0		0.0	False		,,,				2504	0.0					ENST00000278882.3																			2	Substitution - Missense(2)	p.D62V(2)	urinary_tract(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(184-186)gAt>gTt																																						SO:0001583	missense	0							g.chr20:29625941A>T			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.185A>T	20.37:g.29625941A>T	ENSP00000278882:p.Asp62Val					FRG1B_ENST00000358464.4_Missense_Mutation_p.D62V|FRG1B_ENST00000439954.2_Missense_Mutation_p.D67V	p.D62V							5	565	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.185A>T		.	.	.	.	.	.	.	.	.	.	a	11.46	1.644922	0.29246	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.55930	0.49	1.68	1.68	0.24146	.	0.000000	0.85682	U	0.000000	T	0.67316	0.2880	.	.	.	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	T	0.68300	-0.5445	9	0.87932	D	0	.	7.3757	0.26827	1.0:0.0:0.0:0.0	.	67	F5H5R5	.	V	62;67;62	ENSP00000408863:D67V	ENSP00000278882:D62V	D	+	2	0	FRG1B	28239602	1.000000	0.71417	1.000000	0.80357	0.050000	0.14768	7.682000	0.84083	1.028000	0.39785	0.155000	0.16302	GAT		0.333	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		25	416	0	0	0	1	0	25	416				
USP24	23358	broad.mit.edu	37	1	55562215	55562215	+	Missense_Mutation	SNP	T	T	G			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr1:55562215T>G	ENST00000294383.6	-	50	6016	c.6017A>C	c.(6016-6018)tAt>tCt	p.Y2006S	USP24_ENST00000407756.1_Missense_Mutation_p.Y1846S	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	2006	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						AAAGCATTCATACTCCAGGGT	0.323																																						ENST00000294383.6																			0				breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						c.(6016-6018)tAt>tCt		ubiquitin specific peptidase 24							101.0	91.0	94.0					1																	55562215		1808	4073	5881	SO:0001583	missense	23358				ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr1:55562215T>G	AB028980	CCDS44154.1, CCDS44154.2	1p32.3	2008-04-11	2005-08-08		ENSG00000162402	ENSG00000162402		"""Ubiquitin-specific peptidases"""	12623	protein-coding gene	gene with protein product		610569	"""ubiquitin specific protease 24"""			12838346	Standard	NM_015306		Approved	KIAA1057	uc021onw.1	Q9UPU5	OTTHUMG00000008135	ENST00000294383.6:c.6017A>C	1.37:g.55562215T>G	ENSP00000294383:p.Tyr2006Ser					USP24_ENST00000407756.1_Missense_Mutation_p.Y1846S	p.Y2006S	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN			50	6016	-			2006					Q6ZSY2|Q8N2Y4|Q9NXD1	Missense_Mutation	SNP	ENST00000294383.6	37	c.6017A>C	CCDS44154.2	.	.	.	.	.	.	.	.	.	.	T	8.490	0.861857	0.17178	.	.	ENSG00000162402	ENST00000294383;ENST00000407756	T;T	0.04454	3.62;3.62	6.06	4.87	0.63330	.	0.000000	0.85682	D	0.000000	T	0.02230	0.0069	N	0.05124	-0.11	0.58432	D	0.999995	B	0.27013	0.166	B	0.21151	0.033	T	0.37526	-0.9702	10	0.02654	T	1	.	12.2795	0.54755	0.127:0.0:0.0:0.873	.	1846	B7WPF4	.	S	2006;1846	ENSP00000294383:Y2006S;ENSP00000385700:Y1846S	ENSP00000294383:Y2006S	Y	-	2	0	USP24	55334803	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.868000	0.69605	2.324000	0.78689	0.533000	0.62120	TAT		0.323	USP24-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022275.2			7	208	0	0	0	1	0	7	208				
TRIP6	7205	broad.mit.edu	37	7	100466383	100466383	+	Silent	SNP	G	G	T			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr7:100466383G>T	ENST00000200457.4	+	4	990	c.630G>T	c.(628-630)ggG>ggT	p.G210G		NM_003302.2	NP_003293.2	Q15654	TRIP6_HUMAN	thyroid hormone receptor interactor 6	210					focal adhesion assembly (GO:0048041)|positive regulation of cell migration (GO:0030335)|regulation of transcription, DNA-templated (GO:0006355)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	interleukin-1 receptor binding (GO:0005149)|kinase binding (GO:0019900)|poly(A) RNA binding (GO:0044822)|thyroid hormone receptor binding (GO:0046966)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|liver(1)|lung(5)	14	Lung NSC(181;0.041)|all_lung(186;0.0581)					AAGTCTGGGGGCCTGGCTATA	0.701																																						ENST00000200457.4																			0				breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|liver(1)|lung(5)	14						c.(628-630)ggG>ggT		thyroid hormone receptor interactor 6							9.0	12.0	11.0					7																	100466383		1846	4081	5927	SO:0001819	synonymous_variant	7205				focal adhesion assembly|positive regulation of cell migration|regulation of transcription, DNA-dependent|release of cytoplasmic sequestered NF-kappaB|transcription, DNA-dependent	cytoplasm|cytoskeleton|focal adhesion|nucleus	identical protein binding|interleukin-1 receptor binding|kinase binding|thyroid hormone receptor binding|zinc ion binding	g.chr7:100466383G>T	L40374, AF000974	CCDS5708.1	7q22	2006-09-05			ENSG00000087077	ENSG00000087077			12311	protein-coding gene	gene with protein product		602933				9598321, 7776974	Standard	NM_003302		Approved	ZRP-1, OIP1, MGC10556, MGC10558, MGC29959, MGC3837, MGC4423	uc003uww.3	Q15654	OTTHUMG00000157029	ENST00000200457.4:c.630G>T	7.37:g.100466383G>T							p.G210G	NM_003302.2	NP_003293.2	Q15654	TRIP6_HUMAN			4	990	+	Lung NSC(181;0.041)|all_lung(186;0.0581)		210					A4D2E7|F2ZC07|F2ZC08|O15170|O15275|Q9BTB2|Q9BUE5|Q9BXP3|Q9UNT4	Silent	SNP	ENST00000200457.4	37	c.630G>T	CCDS5708.1																																																																																				0.701	TRIP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347151.2	NM_003302		8	97	1	0	5.18039e-06	1	5.27373e-06	8	97				
SYNJ2	8871	broad.mit.edu	37	6	158484842	158484842	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr6:158484842C>T	ENST00000355585.4	+	9	1222	c.1147C>T	c.(1147-1149)Cgg>Tgg	p.R383W	SYNJ2_ENST00000367121.3_Missense_Mutation_p.R383W|SYNJ2_ENST00000367122.2_Missense_Mutation_p.R383W|SYNJ2_ENST00000449859.2_Missense_Mutation_p.R311W	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	383	SAC. {ECO:0000255|PROSITE- ProRule:PRU00183}.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|membrane (GO:0016020)	nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723)			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		AGGCACTTTGCGGATGAACTG	0.502																																						ENST00000355585.4																			0				biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						c.(1147-1149)Cgg>Tgg		synaptojanin 2							166.0	158.0	161.0					6																	158484842		2203	4300	6503	SO:0001583	missense	8871						nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding	g.chr6:158484842C>T	AB002346	CCDS5254.1	6q25.3	2008-05-15			ENSG00000078269	ENSG00000078269			11504	protein-coding gene	gene with protein product		609410					Standard	NM_003898		Approved	INPP5H	uc003qqx.2	O15056	OTTHUMG00000015904	ENST00000355585.4:c.1147C>T	6.37:g.158484842C>T	ENSP00000347792:p.Arg383Trp					SYNJ2_ENST00000367121.3_Missense_Mutation_p.R383W|SYNJ2_ENST00000367122.2_Missense_Mutation_p.R383W|SYNJ2_ENST00000449859.2_Missense_Mutation_p.R311W	p.R383W	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)	9	1222	+			383			SAC.		Q5TA13|Q5TA16|Q5TA19|Q86XK0|Q8IZA8|Q9H226	Missense_Mutation	SNP	ENST00000355585.4	37	c.1147C>T	CCDS5254.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.188294	0.78789	.	.	ENSG00000078269	ENST00000367122;ENST00000367121;ENST00000355585;ENST00000449859	T;T;T;T	0.25579	1.79;1.79;1.79;1.79	4.98	4.98	0.66077	Synaptojanin, N-terminal (1);	0.000000	0.56097	D	0.000035	T	0.68805	0.3041	H	0.99668	4.69	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.997;1.0;0.999;0.999	D	0.85064	0.0936	10	0.87932	D	0	.	18.3154	0.90218	0.0:1.0:0.0:0.0	.	311;383;383;383	B4DJU8;E7ER60;O15056;O15056-3	.;.;SYNJ2_HUMAN;.	W	383;383;383;311	ENSP00000356089:R383W;ENSP00000356088:R383W;ENSP00000347792:R383W;ENSP00000388371:R311W	ENSP00000347792:R383W	R	+	1	2	SYNJ2	158404830	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	3.324000	0.52022	2.327000	0.79052	0.456000	0.33151	CGG		0.502	SYNJ2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042858.2			6	524	0	0	0	1	0	6	524				
ABCB1	5243	broad.mit.edu	37	7	87190672	87190672	+	Missense_Mutation	SNP	A	A	G			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr7:87190672A>G	ENST00000265724.3	-	9	1151	c.734T>C	c.(733-735)tTa>tCa	p.L245S	ABCB1_ENST00000543898.1_Missense_Mutation_p.L181S	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	245	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				drug transmembrane transport (GO:0006855)|G2/M transition of mitotic cell cycle (GO:0000086)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|stem cell proliferation (GO:0072089)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Acebutolol(DB01193)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Adenosine triphosphate(DB00171)|ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Albendazole(DB00518)|Alfentanil(DB00802)|Alitretinoin(DB00523)|Amantadine(DB00915)|Aminohippurate(DB00345)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Amsacrine(DB00276)|Apixaban(DB06605)|Arsenic trioxide(DB01169)|Astemizole(DB00637)|Atazanavir(DB01072)|Atenolol(DB00335)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzocaine(DB01086)|Bepridil(DB01244)|Betamethasone(DB00443)|Biperiden(DB00810)|Boceprevir(DB08873)|Bosutinib(DB06616)|Brentuximab vedotin(DB08870)|Bromocriptine(DB01200)|Buprenorphine(DB00921)|Buspirone(DB00490)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Canagliflozin(DB08907)|Candesartan(DB00796)|Captopril(DB01197)|Carbamazepine(DB00564)|Carfilzomib(DB08889)|Carvedilol(DB01136)|Caspofungin(DB00520)|Chloroquine(DB00608)|Chlorpromazine(DB00477)|Chlorpropamide(DB00672)|Chlorprothixene(DB01239)|Cilazapril(DB01340)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisplatin(DB00515)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Clofazimine(DB00845)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Crizotinib(DB08865)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabigatran etexilate(DB06695)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Digitoxin(DB01396)|Digoxin(DB00390)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Dipyridamole(DB00975)|Docetaxel(DB01248)|Domperidone(DB01184)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Dronedarone(DB04855)|Eletriptan(DB00216)|Enalapril(DB00584)|Enzalutamide(DB08899)|Epinastine(DB00751)|Ergonovine(DB01253)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Etravirine(DB06414)|Ezetimibe(DB00973)|Felodipine(DB01023)|Fentanyl(DB00813)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fidaxomicin(DB08874)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluticasone furoate(DB08906)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Gemcitabine(DB00441)|Glyburide(DB01016)|Gramicidin D(DB00027)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Imatinib(DB00619)|Imipramine(DB00458)|Indacaterol(DB05039)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ivacaftor(DB08820)|Ivermectin(DB00602)|Ketamine(DB01221)|Ketazolam(DB01587)|Ketoconazole(DB01026)|Lamivudine(DB00709)|Lamotrigine(DB00555)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Lenalidomide(DB00480)|Levetiracetam(DB01202)|Levofloxacin(DB01137)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Linagliptin(DB08882)|Liothyronine(DB00279)|Liotrix(DB01583)|Lisinopril(DB00722)|Lomitapide(DB08827)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Mannitol(DB00742)|Maprotiline(DB00934)|Mebendazole(DB00643)|Mefloquine(DB00358)|Megestrol acetate(DB00351)|Meprobamate(DB00371)|Methadone(DB00333)|Methotrexate(DB00563)|Methylprednisolone(DB00959)|Metoprolol(DB00264)|Miconazole(DB01110)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirabegron(DB08893)|Mitomycin(DB00305)|Mitoxantrone(DB01204)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Nadolol(DB01203)|Naloxone(DB01183)|Naltrexone(DB00704)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Neostigmine(DB01400)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nisoldipine(DB00401)|Nitrazepam(DB01595)|Nitrendipine(DB01054)|Nizatidine(DB00585)|Norethindrone(DB00717)|Olanzapine(DB00334)|Omeprazole(DB00338)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paroxetine(DB00715)|Pazopanib(DB06589)|Perindopril(DB00790)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Pitavastatin(DB08860)|Pomalidomide(DB08910)|Ponatinib(DB08901)|Posaconazole(DB01263)|Pravastatin(DB00175)|Prazosin(DB00457)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Progesterone(DB00396)|Promethazine(DB01069)|Propafenone(DB01182)|Propranolol(DB00571)|Protriptyline(DB00344)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Ranitidine(DB00863)|Reboxetine(DB00234)|Regorafenib(DB08896)|Reserpine(DB00206)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Roxithromycin(DB00778)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Scopolamine(DB00747)|Selegiline(DB01037)|Sertraline(DB01104)|Silodosin(DB06207)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|SOFOSBUVIR(DB08934)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Streptozocin(DB00428)|Sulfinpyrazone(DB01138)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telaprevir(DB05521)|Telmisartan(DB00966)|Temsirolimus(DB06287)|Terazosin(DB01162)|Testosterone(DB00624)|Ticagrelor(DB08816)|Timolol(DB00373)|Tolvaptan(DB06212)|Topotecan(DB01030)|Toremifene(DB00539)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Vecuronium(DB01339)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)|Vismodegib(DB08828)|Voacamine(DB04877)|Zidovudine(DB00495)	TGCATACGCTAAGAGTTCTTT	0.318																																						ENST00000265724.3																			0				NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111						c.(733-735)tTa>tCa		ATP-binding cassette, sub-family B (MDR/TAP), member 1	Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)						60.0	60.0	60.0					7																	87190672		2202	4300	6502	SO:0001583	missense	5243				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity	g.chr7:87190672A>G	M14758	CCDS5608.1	7q21.12	2012-03-14	2004-05-12		ENSG00000085563	ENSG00000085563		"""CD molecules"", ""ATP binding cassette transporters / subfamily B"""	40	protein-coding gene	gene with protein product	"""multidrug resistance protein 1"""	171050	"""colchicin sensitivity"""	PGY1, MDR1, CLCS		3027054	Standard	NM_000927		Approved	P-gp, CD243, GP170, ABC20	uc003uiz.2	P08183	OTTHUMG00000023393	ENST00000265724.3:c.734T>C	7.37:g.87190672A>G	ENSP00000265724:p.Leu245Ser					ABCB1_ENST00000543898.1_Missense_Mutation_p.L181S	p.L245S	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN			9	1151	-	Esophageal squamous(14;0.00164)		245			ABC transmembrane type-1 1.		A8K294|B5AK60|Q12755|Q14812	Missense_Mutation	SNP	ENST00000265724.3	37	c.734T>C	CCDS5608.1	.	.	.	.	.	.	.	.	.	.	A	1.804	-0.476462	0.04414	.	.	ENSG00000085563	ENST00000543174;ENST00000265724;ENST00000543898	D;D	0.88896	-2.44;-2.44	5.74	-1.39	0.08997	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	1.288110	0.05571	N	0.571119	T	0.68879	0.3049	N	0.02368	-0.58	0.09310	N	1	B;B	0.09022	0.002;0.002	B;B	0.13407	0.0;0.009	T	0.60265	-0.7297	10	0.09338	T	0.73	0.2998	4.5323	0.12011	0.2258:0.0:0.2567:0.5174	.	181;245	B5AK60;P08183	.;MDR1_HUMAN	S	26;245;181	ENSP00000265724:L245S;ENSP00000444095:L181S	ENSP00000265724:L245S	L	-	2	0	ABCB1	87028608	0.000000	0.05858	0.034000	0.17996	0.760000	0.43138	0.871000	0.28023	-0.139000	0.11414	-0.336000	0.08194	TTA		0.318	ABCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335444.2	NM_000927		10	185	0	0	0	1	0	10	185				
MUC17	140453	broad.mit.edu	37	7	100683249	100683249	+	Missense_Mutation	SNP	C	C	A			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr7:100683249C>A	ENST00000306151.4	+	3	8616	c.8552C>A	c.(8551-8553)cCt>cAt	p.P2851H		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2851	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)	p.P2851H(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AGTTCATCTCCTACAACTGCT	0.507																																						ENST00000306151.4																			1	Substitution - Missense(1)	p.P2851H(1)	lung(1)	NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(8551-8553)cCt>cAt		mucin 17, cell surface associated							253.0	259.0	257.0					7																	100683249		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100683249C>A	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.8552C>A	7.37:g.100683249C>A	ENSP00000302716:p.Pro2851His						p.P2851H	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	8616	+	Lung NSC(181;0.136)|all_lung(186;0.182)		2851			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.8552C>A	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	C	6.626	0.484007	0.12581	.	.	ENSG00000169876	ENST00000306151	T	0.03330	3.97	1.21	0.267	0.15622	.	.	.	.	.	T	0.07324	0.0185	L	0.32530	0.975	0.09310	N	1	D	0.71674	0.998	D	0.67725	0.953	T	0.39035	-0.9633	9	0.33940	T	0.23	.	5.854	0.18710	0.0:0.8011:0.0:0.1989	.	2851	Q685J3	MUC17_HUMAN	H	2851	ENSP00000302716:P2851H	ENSP00000302716:P2851H	P	+	2	0	MUC17	100469969	0.000000	0.05858	0.001000	0.08648	0.039000	0.13416	0.015000	0.13355	0.090000	0.17273	0.134000	0.15878	CCT		0.507	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		8	1280	1	0	0.014758	1	0.0148898	8	1280				
TUBB8P7	197331	broad.mit.edu	37	16	90162513	90162513	+	RNA	SNP	T	T	C			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr16:90162513T>C	ENST00000564451.1	+	0	1866				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7									p.N415N(2)									GCAACATGAATGACCTGGTGT	0.537																																						ENST00000564451.1																			2	Substitution - coding silent(2)	p.N415N(2)	prostate(1)|kidney(1)																																																0							g.chr16:90162513T>C			16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90162513T>C						TUBB8P7_ENST00000567960.1_RNA								0	1866	+									RNA	SNP	ENST00000564451.1	37																																																																																						0.537	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	NG_002334		8	432	0	0	0	1	0	8	432				
DMD	1756	broad.mit.edu	37	X	31525402	31525402	+	Missense_Mutation	SNP	T	T	A			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chrX:31525402T>A	ENST00000357033.4	-	56	8592	c.8386A>T	c.(8386-8388)Att>Ttt	p.I2796F	DMD_ENST00000541735.1_Missense_Mutation_p.I336F|DMD_ENST00000378707.3_Missense_Mutation_p.I336F|DMD_ENST00000343523.2_Missense_Mutation_p.I336F|DMD_ENST00000359836.1_Missense_Mutation_p.I336F|DMD_ENST00000378677.2_Missense_Mutation_p.I2792F|DMD_ENST00000445312.1_5'UTR|DMD_ENST00000474231.1_Missense_Mutation_p.I336F	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	2796					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TCCTACCTAATGTTGAGAGAC	0.408																																						ENST00000357033.4																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77						c.(8386-8388)Att>Ttt		dystrophin							153.0	128.0	136.0					X																	31525402		2201	4300	6501	SO:0001583	missense	1756				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chrX:31525402T>A	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.8386A>T	X.37:g.31525402T>A	ENSP00000354923:p.Ile2796Phe					DMD_ENST00000343523.2_Missense_Mutation_p.I336F|DMD_ENST00000378707.3_Missense_Mutation_p.I336F|DMD_ENST00000359836.1_Missense_Mutation_p.I336F|DMD_ENST00000445312.1_5'UTR|DMD_ENST00000474231.1_Missense_Mutation_p.I336F|DMD_ENST00000541735.1_Missense_Mutation_p.I336F|DMD_ENST00000378677.2_Missense_Mutation_p.I2792F	p.I2796F	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN			56	8592	-		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)	2796					E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000357033.4	37	c.8386A>T	CCDS14233.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	19.85|19.85	3.903073|3.903073	0.72754|0.72754	.|.	.|.	ENSG00000198947|ENSG00000198947	ENST00000465285|ENST00000534884;ENST00000378682;ENST00000378684;ENST00000358062;ENST00000378677;ENST00000357033;ENST00000359836;ENST00000343523;ENST00000542849;ENST00000535280;ENST00000378707;ENST00000541735;ENST00000474231	.|T;T;T;T;T;T;T;T	.|0.49720	.|0.77;0.77;0.77;0.77;0.77;0.77;0.77;0.77	5.75|5.75	5.75|5.75	0.90469|0.90469	.|.	.|0.000000	.|0.37304	.|U	.|0.002147	T|T	0.69287|0.69287	0.3094|0.3094	M|M	0.78049|0.78049	2.395|2.395	0.58432|0.58432	D|D	0.999999|0.999999	.|D;D;D;D;D;D;D;D;D;D;D	.|0.89917	.|0.994;0.994;0.993;0.994;0.994;0.989;0.996;0.996;0.997;0.993;1.0	.|P;D;D;D;D;D;D;D;D;P;D	.|0.76575	.|0.791;0.917;0.912;0.917;0.917;0.949;0.978;0.978;0.917;0.865;0.988	T|T	0.72491|0.72491	-0.4277|-0.4277	5|10	.|0.54805	.|T	.|0.06	.|.	14.9992|14.9992	0.71459|0.71459	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|2788;2796;2792;1455;1452;336;336;336;336;336;2673	.|P11532-4;P11532;E9PDN5;E7EQS7;E7EQS6;F8VX32;E7ESB2;E7EQS5;E7EQR9;F5GZY3;F5GZT3	.|.;DMD_HUMAN;.;.;.;.;.;.;.;.;.	L|F	524|2788;1455;1452;492;2792;2796;336;336;2796;2673;336;336;336	.|ENSP00000350765:I492F;ENSP00000367948:I2792F;ENSP00000354923:I2796F;ENSP00000352894:I336F;ENSP00000340057:I336F;ENSP00000367979:I336F;ENSP00000444119:I336F;ENSP00000417123:I336F	.|ENSP00000340057:I336F	H|I	-|-	2|1	0|0	DMD|DMD	31435323|31435323	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.988000|0.988000	0.76386|0.76386	5.220000|5.220000	0.65267|0.65267	1.924000|1.924000	0.55735|0.55735	0.481000|0.481000	0.45027|0.45027	CAT|ATT		0.408	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		17	282	0	0	0	1	0	17	282				
FAM47C	442444	broad.mit.edu	37	X	37028425	37028425	+	Missense_Mutation	SNP	A	A	G	rs145580328		TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chrX:37028425A>G	ENST00000358047.3	+	1	1994	c.1942A>G	c.(1942-1944)Aat>Gat	p.N648D		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	648								p.N648D(7)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GGAGCCTCCCAATACTGGAGT	0.642																																						ENST00000358047.3																			7	Substitution - Missense(7)	p.N648D(7)	urinary_tract(2)|prostate(2)|lung(2)|skin(1)	breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						c.(1942-1944)Aat>Gat		family with sequence similarity 47, member C							51.0	56.0	55.0					X																	37028425		2201	4299	6500	SO:0001583	missense	442444							g.chrX:37028425A>G	AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.1942A>G	X.37:g.37028425A>G	ENSP00000367913:p.Asn648Asp						p.N648D	NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN			1	1994	+			648					Q6ZU46	Missense_Mutation	SNP	ENST00000358047.3	37	c.1942A>G	CCDS35227.1	.	.	.	.	.	.	.	.	.	.	-	3.343	-0.134139	0.06711	.	.	ENSG00000198173	ENST00000358047	T	0.13196	2.61	1.61	-3.22	0.05125	.	.	.	.	.	T	0.04543	0.0124	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38993	-0.9635	9	0.20519	T	0.43	.	0.6811	0.00875	0.2356:0.2078:0.3498:0.2069	.	648	Q5HY64	FA47C_HUMAN	D	648	ENSP00000367913:N648D	ENSP00000367913:N648D	N	+	1	0	FAM47C	36938346	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.937000	0.01547	-1.437000	0.01967	-1.178000	0.01721	AAT		0.642	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		8	656	0	0	0	1	0	8	656				
TAS2R30	259293	broad.mit.edu	37	12	11286041	11286041	+	Missense_Mutation	SNP	A	A	G	rs201104140		TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr12:11286041A>G	ENST00000539585.1	-	1	1202	c.803T>C	c.(802-804)aTa>aCa	p.I268T	PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	NM_001097643.1	NP_001091112.1	P59541	T2R30_HUMAN	taste receptor, type 2, member 30	268					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)			autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	13						ATAGCTGAATATAATAGCTTG	0.408																																						ENST00000539585.1																			0				autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	13						c.(802-804)aTa>aCa		taste receptor, type 2, member 30							136.0	145.0	142.0					12																	11286041		2170	4288	6458	SO:0001583	missense	259293							g.chr12:11286041A>G	AX097746, AF494233	CCDS53750.1	12p13.2	2012-08-22				ENSG00000256188		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	19112	protein-coding gene	gene with protein product		613963	"""taste receptor, type 2, member 47"""	TAS2R47			Standard	NM_001097643		Approved	T2R30	uc009zhs.1	P59541		ENST00000539585.1:c.803T>C	12.37:g.11286041A>G	ENSP00000444736:p.Ile268Thr					TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	p.I268T	NM_001097643.1	NP_001091112.1					1	1202	-								Q645X7	Missense_Mutation	SNP	ENST00000539585.1	37	c.803T>C	CCDS53750.1	.	.	.	.	.	.	.	.	.	.	-	0.392	-0.922915	0.02377	.	.	ENSG00000256188	ENST00000539585	T	0.35605	1.3	2.49	-4.97	0.03029	.	.	.	.	.	T	0.10723	0.0262	N	0.01091	-1.02	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.30238	-0.9985	9	0.39692	T	0.17	.	6.8701	0.24115	0.2618:0.2847:0.4535:0.0	.	268	P59541	T2R30_HUMAN	T	268	ENSP00000444736:I268T	ENSP00000444736:I268T	I	-	2	0	TAS2R30	11177308	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.718000	0.01875	-2.752000	0.00374	-3.087000	0.00065	ATA		0.408	TAS2R30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400238.1	NM_001097643		34	528	0	0	0	1	0	34	528				
EVI2A	2123	broad.mit.edu	37	17	29645681	29645681	+	Silent	SNP	A	A	G			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr17:29645681A>G	ENST00000462804.2	-	2	750	c.351T>C	c.(349-351)caT>caC	p.H117H	NF1_ENST00000358273.4_Intron|NF1_ENST00000581113.2_Intron|NF1_ENST00000356175.3_Intron|EVI2A_ENST00000247270.3_Silent_p.H140H|EVI2A_ENST00000461237.1_Silent_p.H117H|CTD-2370N5.3_ENST00000578584.1_Missense_Mutation_p.W57R	NM_014210.3	NP_055025.2	P22794	EVI2A_HUMAN	ecotropic viral integration site 2A	117					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	transmembrane signaling receptor activity (GO:0004888)	p.0?(8)|p.?(3)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	14		all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094)		UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;5.94e-13)|Epithelial(4;7.98e-12)|OV - Ovarian serous cystadenocarcinoma(4;9.4e-12)|GBM - Glioblastoma multiforme(4;0.18)		AAATTTCACCATGACTTTTGC	0.358																																						ENST00000578584.1																			11	Whole gene deletion(8)|Unknown(3)	p.0?(8)|p.?(3)	soft_tissue(7)|autonomic_ganglia(2)|lung(1)|central_nervous_system(1)								c.(169-171)Tgg>Cgg									138.0	140.0	139.0					17																	29645681		2203	4299	6502	SO:0001819	synonymous_variant	0							g.chr17:29645681A>G	M55267	CCDS32608.1, CCDS42293.1	17q11.2	2008-07-18			ENSG00000126860	ENSG00000126860			3499	protein-coding gene	gene with protein product		158380		EVI2		2117566	Standard	NM_014210		Approved	EVDA	uc002hgm.3	P22794	OTTHUMG00000159306	ENST00000462804.2:c.351T>C	17.37:g.29645681A>G						NF1_ENST00000581113.2_Intron|EVI2A_ENST00000462804.2_Silent_p.H117H|EVI2A_ENST00000461237.1_Silent_p.H117H|EVI2A_ENST00000247270.3_Silent_p.H140H|NF1_ENST00000358273.4_Intron|NF1_ENST00000356175.3_Intron	p.W57R							1	168	-								B2R5X2|B4DHX8	Missense_Mutation	SNP	ENST00000462804.2	37	c.169T>C	CCDS42293.1																																																																																				0.358	EVI2A-001	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000354491.3	NM_014210		33	501	0	0	0	1	0	33	501				
TEPP	374739	broad.mit.edu	37	16	58018681	58018681	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr16:58018681G>A	ENST00000441824.2	+	4	629	c.592G>A	c.(592-594)Ggg>Agg	p.G198R	TEPP_ENST00000290871.5_Missense_Mutation_p.G198R|TEPP_ENST00000569996.1_3'UTR	NM_199456.2	NP_955535.2	Q6URK8	TEPP_HUMAN	testis, prostate and placenta expressed	198						extracellular region (GO:0005576)				central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	8						GTCCTCGGCCGGGGAGTTCAA	0.682																																						ENST00000290871.5																			0				central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	8						c.(592-594)Ggg>Agg		testis, prostate and placenta expressed							34.0	27.0	30.0					16																	58018681		2198	4299	6497	SO:0001583	missense	374739					extracellular region		g.chr16:58018681G>A	BC104458	CCDS10790.1, CCDS45496.1	16q13	2009-04-20			ENSG00000159648	ENSG00000159648			33745	protein-coding gene	gene with protein product		610264				14652002	Standard	NM_199456		Approved		uc002emv.4	Q6URK8	OTTHUMG00000133463	ENST00000441824.2:c.592G>A	16.37:g.58018681G>A	ENSP00000401917:p.Gly198Arg					TEPP_ENST00000441824.2_Missense_Mutation_p.G198R|TEPP_ENST00000569996.1_3'UTR	p.G198R	NM_199046.2	NP_950247.2	Q6URK8	TEPP_HUMAN			4	629	+			198					Q6URK7	Missense_Mutation	SNP	ENST00000441824.2	37	c.592G>A	CCDS45496.1	.	.	.	.	.	.	.	.	.	.	G	16.03	3.006870	0.54361	.	.	ENSG00000159648	ENST00000290871;ENST00000441824	T;T	0.59772	0.24;0.26	5.29	4.34	0.51931	.	0.285249	0.29948	N	0.010788	T	0.59715	0.2214	M	0.81682	2.555	0.09310	N	1	D;D	0.56287	0.975;0.975	B;B	0.43386	0.418;0.418	T	0.60042	-0.7340	10	0.59425	D	0.04	8.7723	10.1043	0.42524	0.0933:0.0:0.9067:0.0	.	198;198	Q6URK8;Q6URK8-2	TEPP_HUMAN;.	R	198	ENSP00000290871:G198R;ENSP00000401917:G198R	ENSP00000290871:G198R	G	+	1	0	TEPP	56576182	0.766000	0.28496	0.091000	0.20842	0.959000	0.62525	1.217000	0.32455	1.229000	0.43630	-0.149000	0.13747	GGG		0.682	TEPP-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000431966.1	NM_199456		4	72	0	0	0	1	0	4	72				
ZNF845	91664	broad.mit.edu	37	19	53856761	53856761	+	Missense_Mutation	SNP	T	T	C	rs528924232		TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr19:53856761T>C	ENST00000595091.1	+	5	3052	c.2833T>C	c.(2833-2835)Tgt>Cgt	p.C945R	ZNF845_ENST00000458035.1_Missense_Mutation_p.C945R			Q96IR2	ZN845_HUMAN	zinc finger protein 845	945					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.C945R(1)		endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						ACCTTACAAGTGTAATGAATG	0.348																																						ENST00000458035.1																			1	Substitution - Missense(1)	p.C945R(1)	kidney(1)	endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						c.(2833-2835)Tgt>Cgt		zinc finger protein 845							25.0	23.0	24.0					19																	53856761		692	1590	2282	SO:0001583	missense	91664				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53856761T>C	BC007307	CCDS46170.1	19q13.42	2013-01-08			ENSG00000213799	ENSG00000213799		"""Zinc fingers, C2H2-type"", ""-"""	25112	protein-coding gene	gene with protein product							Standard	NM_138374		Approved		uc010ydv.1	Q96IR2		ENST00000595091.1:c.2833T>C	19.37:g.53856761T>C	ENSP00000470005:p.Cys945Arg					ZNF845_ENST00000595091.1_Missense_Mutation_p.C945R	p.C945R	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN			4	2950	+			945						Missense_Mutation	SNP	ENST00000595091.1	37	c.2833T>C	CCDS46170.1	.	.	.	.	.	.	.	.	.	.	T	7.922	0.738844	0.15642	.	.	ENSG00000213799	ENST00000458035;ENST00000427984	D	0.85258	-1.96	2.04	0.921	0.19403	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.94417	0.8204	H	0.99336	4.52	0.38301	D	0.942985	D	0.89917	1.0	D	0.91635	0.999	D	0.91222	0.5007	9	0.66056	D	0.02	.	6.1858	0.20495	0.2258:0.0:0.0:0.7742	.	945	Q96IR2	ZN845_HUMAN	R	945;861	ENSP00000388311:C945R	ENSP00000412086:C861R	C	+	1	0	ZNF845	58548573	1.000000	0.71417	0.080000	0.20451	0.053000	0.15095	4.520000	0.60524	0.031000	0.15407	-0.871000	0.02989	TGT		0.348	ZNF845-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464359.1	XM_039908		5	152	0	0	0	1	0	5	152				
CRIPAK	285464	broad.mit.edu	37	4	1389323	1389323	+	Missense_Mutation	SNP	G	G	A	rs1140011	byFrequency	TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr4:1389323G>A	ENST00000324803.4	+	1	3984	c.1024G>A	c.(1024-1026)Gcc>Acc	p.A342T		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	342					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of protein kinase activity (GO:0006469)|regulation of cytoskeleton organization (GO:0051493)|response to estrogen (GO:0043627)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			TGGAGTGCCCGCCTGCTCACA	0.667													-|||	3	0.000599042	0.0	0.0014	5008	,	,		15920	0.002		0.0	False		,,,				2504	0.0					ENST00000324803.4																			0				NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35						c.(1024-1026)Gcc>Acc		cysteine-rich PAK1 inhibitor		G	THR/ALA	0,4406		0,0,2203	158.0	166.0	163.0		1024	0.7	0.0	4	dbSNP_86	163	3,8597	3.0+/-9.4	0,3,4297	no	missense	CRIPAK	NM_175918.3	58	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	possibly-damaging	342/447	1389323	3,13003	2203	4300	6503	SO:0001583	missense	285464				ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus	endoplasmic reticulum|nucleus|plasma membrane	protein binding	g.chr4:1389323G>A	AK096209	CCDS3349.1	4p16.3	2011-02-10	2006-09-04		ENSG00000179979	ENSG00000179979			26619	protein-coding gene	gene with protein product		610203	"""cysteine-rich PAK1inhibitor"""			16278681	Standard	NM_175918		Approved	FLJ34443	uc003gdf.2	Q8N1N5	OTTHUMG00000121131	ENST00000324803.4:c.1024G>A	4.37:g.1389323G>A	ENSP00000323978:p.Ala342Thr						p.A342T	NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0106)		1	3984	+			342					Q8NB03	Missense_Mutation	SNP	ENST00000324803.4	37	c.1024G>A	CCDS3349.1	.	.	.	.	.	.	.	.	.	.	G	13.77	2.335892	0.41398	0.0	3.49E-4	ENSG00000179979	ENST00000324803;ENST00000382944	T	0.19938	2.11	0.721	0.721	0.18219	.	.	.	.	.	T	0.07234	0.0183	N	0.08118	0	0.18873	N	0.999989	P	0.36065	0.535	B	0.20767	0.031	T	0.30268	-0.9984	9	0.20519	T	0.43	.	7.2686	0.26244	1.0E-4:0.0:0.9999:0.0	rs1140011	342	Q8N1N5	CRPAK_HUMAN	T	342;284	ENSP00000323978:A342T	ENSP00000323978:A342T	A	+	1	0	CRIPAK	1379323	0.000000	0.05858	0.013000	0.15412	0.268000	0.26511	-0.704000	0.05058	0.665000	0.31066	0.196000	0.17591	GCC		0.667	CRIPAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241607.2	NM_175918		12	1296	0	0	0	1	0	12	1296				
PRG4	10216	broad.mit.edu	37	1	186276216	186276216	+	Silent	SNP	T	T	C			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr1:186276216T>C	ENST00000445192.2	+	7	1410	c.1365T>C	c.(1363-1365)acT>acC	p.T455T	PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367485.4_Silent_p.T362T|PRG4_ENST00000367483.4_Silent_p.T414T|PRG4_ENST00000367486.3_Silent_p.T412T	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	455	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CACCCACCACTCCCAAGGAGC	0.652																																						ENST00000445192.2																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						c.(1363-1365)acT>acC		proteoglycan 4							81.0	91.0	87.0					1																	186276216		2203	4298	6501	SO:0001819	synonymous_variant	10216				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	g.chr1:186276216T>C	U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"""lubricin"", ""megakaryocyte stimulating factor"", ""articular superficial zone protein"", ""Jacobs camptodactyly-arthropathy-pericarditis syndrome"", ""camptodactyly, arthropathy, coxa vara, pericarditis syndrome"", ""bG174L6.2 (MSF: megakaryocyte stimulating factor )"""	604283	"""proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"""	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.1365T>C	1.37:g.186276216T>C						PRG4_ENST00000367486.3_Silent_p.T412T|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367485.4_Silent_p.T362T|PRG4_ENST00000367483.4_Silent_p.T414T	p.T455T	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN			7	1410	+			455			59 X 8 AA repeats of K-X-P-X-P-T-T-X.		Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Silent	SNP	ENST00000445192.2	37	c.1365T>C	CCDS1369.1																																																																																				0.652	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807		8	405	0	0	0	1	0	8	405				
EPB41L4A	64097	broad.mit.edu	37	5	111616005	111616005	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr5:111616005C>T	ENST00000261486.5	-	3	496	c.220G>A	c.(220-222)Gca>Aca	p.A74T		NM_022140.3	NP_071423	Q9HCS5	E41LA_HUMAN	erythrocyte membrane protein band 4.1 like 4A	74	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)				breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(2)|skin(1)	34		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)		OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791)		AGGGTTTTTGCAGGATCCAGC	0.338																																						ENST00000261486.5																			0				breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(2)|skin(1)	34						c.(220-222)Gca>Aca		erythrocyte membrane protein band 4.1 like 4A							193.0	180.0	184.0					5																	111616005		1843	4090	5933	SO:0001583	missense	64097					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding	g.chr5:111616005C>T	AB030240	CCDS43350.1	5q21.3	2008-02-05			ENSG00000129595	ENSG00000129595			13278	protein-coding gene	gene with protein product		612141				10874211	Standard	XM_005272043		Approved	NBL4	uc003kpv.1	Q9HCS5	OTTHUMG00000162902	ENST00000261486.5:c.220G>A	5.37:g.111616005C>T	ENSP00000261486:p.Ala74Thr						p.A74T	NM_022140.3	NP_071423.3	Q9HCS5	E41LA_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791)	3	496	-		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)	74			FERM.		A4FUI6	Missense_Mutation	SNP	ENST00000261486.5	37	c.220G>A	CCDS43350.1	.	.	.	.	.	.	.	.	.	.	C	9.117	1.008081	0.19199	.	.	ENSG00000129595	ENST00000261486	T	0.76709	-1.04	5.95	4.08	0.47627	FERM, N-terminal (1);Band 4.1 domain (1);FERM domain (1);FERM conserved site (1);	0.284025	0.35262	N	0.003333	T	0.55337	0.1914	N	0.11000	0.08	0.29488	N	0.855849	B	0.18461	0.028	B	0.17722	0.019	T	0.47209	-0.9135	10	0.27082	T	0.32	.	6.3895	0.21579	0.149:0.6989:0.0:0.1521	.	74	Q9HCS5	E41LA_HUMAN	T	74	ENSP00000261486:A74T	ENSP00000261486:A74T	A	-	1	0	EPB41L4A	111643904	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	1.000000	0.29770	1.524000	0.49035	0.655000	0.94253	GCA		0.338	EPB41L4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370969.1			7	781	0	0	0	1	0	7	781				
EPB41L5	57669	broad.mit.edu	37	2	120776837	120776837	+	Silent	SNP	G	G	A			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr2:120776837G>A	ENST00000263713.5	+	2	391	c.177G>A	c.(175-177)ttG>ttA	p.L59L	EPB41L5_ENST00000452780.1_Silent_p.L59L|EPB41L5_ENST00000443902.2_Silent_p.L59L|EPB41L5_ENST00000331393.4_Silent_p.L59L|EPB41L5_ENST00000443124.1_Silent_p.L59L	NM_020909.3	NP_065960.2	Q9HCM4	E41L5_HUMAN	erythrocyte membrane protein band 4.1 like 5	59	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				actomyosin structure organization (GO:0031032)|apical constriction (GO:0003383)|axial mesoderm morphogenesis (GO:0048319)|cellular response to transforming growth factor beta stimulus (GO:0071560)|ectoderm development (GO:0007398)|embryonic foregut morphogenesis (GO:0048617)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|in utero embryonic development (GO:0001701)|left/right axis specification (GO:0070986)|mesoderm migration involved in gastrulation (GO:0007509)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of protein binding (GO:0032091)|neural plate morphogenesis (GO:0001839)|paraxial mesoderm development (GO:0048339)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of protein binding (GO:0032092)|posttranscriptional regulation of gene expression (GO:0010608)|regulation of establishment of protein localization (GO:0070201)|somite rostral/caudal axis specification (GO:0032525)|substrate-dependent cell migration, cell attachment to substrate (GO:0006931)|unidimensional cell growth (GO:0009826)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(12)|ovary(1)	26						GTGTGGACTTGCCAGTAAGTA	0.443																																						ENST00000263713.5																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(12)|ovary(1)	26						c.(175-177)ttG>ttA		erythrocyte membrane protein band 4.1 like 5							209.0	204.0	205.0					2																	120776837		2203	4300	6503	SO:0001819	synonymous_variant	57669					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding	g.chr2:120776837G>A	AK023019	CCDS2130.1, CCDS54392.1, CCDS54393.1	2q14.2	2009-07-28			ENSG00000115109	ENSG00000115109			19819	protein-coding gene	gene with protein product		611730					Standard	NM_001184937		Approved	KIAA1548, FLJ12957, BE37, YMO1	uc002tmg.3	Q9HCM4	OTTHUMG00000131433	ENST00000263713.5:c.177G>A	2.37:g.120776837G>A						EPB41L5_ENST00000452780.1_Silent_p.L59L|EPB41L5_ENST00000443902.2_Silent_p.L59L|EPB41L5_ENST00000443124.1_Silent_p.L59L|EPB41L5_ENST00000331393.4_Silent_p.L59L	p.L59L	NM_020909.3	NP_065960.2	Q9HCM4	E41L5_HUMAN			2	391	+			59			FERM.		Q7Z5S1|Q8IZ12|Q9H975	Silent	SNP	ENST00000263713.5	37	c.177G>A	CCDS2130.1																																																																																				0.443	EPB41L5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254230.2	NM_020909		52	676	0	0	0	1	0	52	676				
MED12L	116931	broad.mit.edu	37	3	151107890	151107890	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr3:151107890G>A	ENST00000474524.1	+	36	5508	c.5470G>A	c.(5470-5472)Ggc>Agc	p.G1824S	MED12L_ENST00000273432.4_Missense_Mutation_p.G1684S	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	1824						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CCAGCAGCCCGGCTTTTTCCT	0.502																																						ENST00000474524.1																			0				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128						c.(5470-5472)Ggc>Agc		mediator complex subunit 12-like							148.0	161.0	156.0					3																	151107890		2203	4300	6503	SO:0001583	missense	116931				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		g.chr3:151107890G>A	AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"""			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.5470G>A	3.37:g.151107890G>A	ENSP00000417235:p.Gly1824Ser					MED12L_ENST00000273432.4_Missense_Mutation_p.G1684S	p.G1824S	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		36	5508	+			1824					Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Missense_Mutation	SNP	ENST00000474524.1	37	c.5470G>A	CCDS33876.1	.	.	.	.	.	.	.	.	.	.	G	15.08	2.727184	0.48833	.	.	ENSG00000144893	ENST00000474524;ENST00000273432	T;T	0.59906	0.37;0.23	5.75	-0.308	0.12773	Mediator complex, subunit Med12, catenin-binding (1);	0.320200	0.34110	N	0.004251	T	0.40886	0.1135	L	0.35723	1.085	0.23449	N	0.997655	B;B	0.32409	0.37;0.033	B;B	0.27380	0.079;0.038	T	0.22382	-1.0218	10	0.52906	T	0.07	-5.806	9.6232	0.39734	0.4167:0.0:0.5833:0.0	.	1684;1824	F8WAE6;Q86YW9	.;MD12L_HUMAN	S	1824;1684	ENSP00000417235:G1824S;ENSP00000273432:G1684S	ENSP00000273432:G1684S	G	+	1	0	MED12L	152590580	0.860000	0.29831	0.190000	0.23270	0.991000	0.79684	0.622000	0.24433	-0.386000	0.07821	0.655000	0.94253	GGC		0.502	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357707.2	NM_053002		32	683	0	0	0	1	0	32	683				
KCNS2	3788	broad.mit.edu	37	8	99440470	99440470	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr8:99440470G>A	ENST00000287042.4	+	2	613	c.263G>A	c.(262-264)gGc>gAc	p.G88D	KCNS2_ENST00000521839.1_Missense_Mutation_p.G88D	NM_020697.2	NP_065748.1	Q9ULS6	KCNS2_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2	88					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)	p.G88D(1)		autonomic_ganglia(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	31	Breast(36;2.4e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.0448)			TATCACACCGGCAAGCTTCAC	0.542																																					Pancreas(138;844 2489 9202 24627)	ENST00000287042.4																			1	Substitution - Missense(1)	p.G88D(1)	lung(1)	autonomic_ganglia(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	31						c.(262-264)gGc>gAc		potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2							135.0	109.0	118.0					8																	99440470		2203	4300	6503	SO:0001583	missense	3788					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr8:99440470G>A	AB032970	CCDS6279.1	8q22	2011-07-05			ENSG00000156486	ENSG00000156486		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6301	protein-coding gene	gene with protein product		602906				9305895, 16382104	Standard	NM_020697		Approved	Kv9.2	uc003yin.3	Q9ULS6	OTTHUMG00000044337	ENST00000287042.4:c.263G>A	8.37:g.99440470G>A	ENSP00000287042:p.Gly88Asp					KCNS2_ENST00000521839.1_Missense_Mutation_p.G88D	p.G88D	NM_020697.2	NP_065748.1	Q9ULS6	KCNS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.0448)		2	613	+	Breast(36;2.4e-06)		88					A8KAN1	Missense_Mutation	SNP	ENST00000287042.4	37	c.263G>A	CCDS6279.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.376631	0.82682	.	.	ENSG00000156486	ENST00000287042;ENST00000521839	T;T	0.55930	0.49;0.49	5.41	5.41	0.78517	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.055844	0.64402	D	0.000001	T	0.80864	0.4705	M	0.93638	3.44	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.85918	0.1444	10	0.87932	D	0	.	19.1973	0.93695	0.0:0.0:1.0:0.0	.	88	Q9ULS6	KCNS2_HUMAN	D	88	ENSP00000287042:G88D;ENSP00000430712:G88D	ENSP00000287042:G88D	G	+	2	0	KCNS2	99509646	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.527000	0.85204	0.563000	0.77884	GGC		0.542	KCNS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103134.1	NM_020697		6	450	0	0	0	1	0	6	450				
ZNF100	163227	broad.mit.edu	37	19	21910701	21910701	+	Missense_Mutation	SNP	T	T	C			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr19:21910701T>C	ENST00000358296.6	-	5	611	c.413A>G	c.(412-414)tAt>tGt	p.Y138C	ZNF100_ENST00000305570.6_Missense_Mutation_p.Y74C	NM_173531.3	NP_775802.2	Q8IYN0	ZN100_HUMAN	zinc finger protein 100	138					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)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	21						GTCATGTCCATATTTTCCATA	0.333																																						ENST00000358296.6																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	21						c.(412-414)tAt>tGt		zinc finger protein 100							93.0	90.0	91.0					19																	21910701		1976	4199	6175	SO:0001583	missense	163227				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21910701T>C	BC035579	CCDS42538.1	19p13.1	2013-01-08	2003-12-19		ENSG00000197020	ENSG00000197020		"""Zinc fingers, C2H2-type"", ""-"""	12880	protein-coding gene	gene with protein product		603982	"""zinc finger protein 100 (Y1)"""			12477932	Standard	NM_173531		Approved		uc002nqi.3	Q8IYN0		ENST00000358296.6:c.413A>G	19.37:g.21910701T>C	ENSP00000351042:p.Tyr138Cys					ZNF100_ENST00000305570.6_Missense_Mutation_p.Y74C	p.Y138C	NM_173531.3	NP_775802.2	Q8IYN0	ZN100_HUMAN			5	611	-			138					Q7M4M0	Missense_Mutation	SNP	ENST00000358296.6	37	c.413A>G	CCDS42538.1	.	.	.	.	.	.	.	.	.	.	.	0	-2.740479	0.00088	.	.	ENSG00000197020	ENST00000358296	T	0.04758	3.56	0.832	0.832	0.18867	.	.	.	.	.	T	0.01627	0.0052	N	0.02202	-0.64	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.0;0.002	T	0.46992	-0.9151	9	0.02654	T	1	.	6.5582	0.22471	0.0:0.0:0.0:1.0	.	138;192	Q8IYN0;Q4G131	ZN100_HUMAN;.	C	138	ENSP00000351042:Y138C	ENSP00000351042:Y138C	Y	-	2	0	ZNF100	21702541	0.000000	0.05858	0.040000	0.18447	0.037000	0.13140	-0.198000	0.09505	0.148000	0.19059	0.147000	0.16070	TAT		0.333	ZNF100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464087.1	NM_173531		5	309	0	0	0	1	0	5	309				
GGT3P	2679	broad.mit.edu	37	22	18769145	18769145	+	RNA	SNP	G	G	A	rs200209148	byFrequency	TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr22:18769145G>A	ENST00000412448.1	-	0	1141							A6NGU5	GGT3_HUMAN	gamma-glutamyltransferase 3 pseudogene						glutathione biosynthetic process (GO:0006750)|glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)	anchored component of external side of plasma membrane (GO:0031362)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)										TGAGGCTGCCGTTGTAGAAGG	0.612																																						ENST00000412448.1																			0																																																			0							g.chr22:18769145G>A			22q11.21	2008-08-05	2008-03-10	2008-03-10	ENSG00000197421	ENSG00000197421		"""Gamma-glutamyltransferases"""	4252	pseudogene	pseudogene			"""gamma-glutamyltransferase 3"""	GGT3		8104871, 18357469	Standard	NR_003267		Approved		uc002zob.1	A6NGU5	OTTHUMG00000150161		22.37:g.18769145G>A														0	1141	-									RNA	SNP	ENST00000412448.1	37																																																																																						0.612	GGT3P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000341281.1	NR_003267		4	53	0	0	0	1	0	4	53				
RPL36	25873	broad.mit.edu	37	19	5693658	5693658	+	IGR	SNP	G	G	A			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr19:5693658G>A	ENST00000577222.1	+	0	874				LONP1_ENST00000593119.1_Missense_Mutation_p.R751C|LONP1_ENST00000585374.1_Missense_Mutation_p.R701C|LONP1_ENST00000590729.1_Missense_Mutation_p.R685C|LONP1_ENST00000540670.2_Missense_Mutation_p.R619C|LONP1_ENST00000360614.3_Missense_Mutation_p.R815C			Q9Y3U8	RL36_HUMAN	ribosomal protein L36						cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|membrane (GO:0016020)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			breast(1)|upper_aerodigestive_tract(1)	2						TAGGCTATGCGGGCGCTCTCC	0.622																																						ENST00000360614.3																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(2443-2445)Cgc>Tgc		lon peptidase 1, mitochondrial							171.0	121.0	138.0					19																	5693658		2203	4300	6503	SO:0001628	intergenic_variant	9361				cellular chaperone-mediated protein complex assembly|cellular response to oxidative stress|misfolded or incompletely synthesized protein catabolic process|mitochondrial DNA metabolic process|oxidation-dependent protein catabolic process|protein homooligomerization|response to hypoxia	mitochondrial nucleoid	ADP binding|ATP binding|ATP-dependent peptidase activity|DNA polymerase binding|G-quadruplex DNA binding|mitochondrial heavy strand promoter anti-sense binding|mitochondrial light strand promoter anti-sense binding|sequence-specific DNA binding|serine-type endopeptidase activity|single-stranded DNA binding|single-stranded RNA binding	g.chr19:5693658G>A		CCDS12147.1	19p13.2	2011-04-06				ENSG00000130255		"""L ribosomal proteins"""	13631	protein-coding gene	gene with protein product							Standard	NM_033643		Approved	DKFZp566B023, L36	uc002mcv.3	Q9Y3U8			19.37:g.5693658G>A						LONP1_ENST00000593119.1_Missense_Mutation_p.R751C|LONP1_ENST00000540670.2_Missense_Mutation_p.R619C|LONP1_ENST00000585374.1_Missense_Mutation_p.R701C|LONP1_ENST00000590729.1_Missense_Mutation_p.R685C	p.R815C	NM_004793.2	NP_004784.2	P36776	LONM_HUMAN			16	2600	-			815					B2R4Y1|D6W634|Q6FIG1|Q9UQF6	Missense_Mutation	SNP	ENST00000577222.1	37	c.2443C>T	CCDS12147.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.010693	0.75046	.	.	ENSG00000196365	ENST00000360614;ENST00000358403;ENST00000540670	T;T	0.32023	1.47;1.47	4.33	1.95	0.26073	Ribosomal protein S5 domain 2-type fold (1);Peptidase S16, Lon C-terminal (1);	0.115139	0.53938	D	0.000041	T	0.56232	0.1971	M	0.92738	3.34	0.46678	D	0.999155	D;D;D	0.71674	0.998;0.997;0.998	P;P;P	0.61328	0.887;0.826;0.887	T	0.63047	-0.6724	10	0.72032	D	0.01	-18.8119	9.1248	0.36807	0.0:0.0:0.3904:0.6096	.	815;751;815	E5KMH8;Q8N8K8;P36776	.;.;LONM_HUMAN	C	815;779;619	ENSP00000353826:R815C;ENSP00000441523:R619C	ENSP00000351177:R779C	R	-	1	0	LONP1	5644658	1.000000	0.71417	0.930000	0.37139	0.912000	0.54170	4.354000	0.59417	0.719000	0.32188	0.549000	0.68633	CGC		0.622	RPL36-001	KNOWN	alternative_5_UTR|overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442561.1	NM_015414		16	255	0	0	0	1	0	16	255				
HERC2P3	283755	broad.mit.edu	37	15	20588554	20588554	+	RNA	SNP	C	C	G	rs112526901	byFrequency	TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr15:20588554C>G	ENST00000428453.1	-	0	4196							Q9BVR0	HRC23_HUMAN	hect domain and RLD 2 pseudogene 3								metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						CCGTGGAAAGCGGTTGCAGAA	0.473													G|||	231	0.0461262	0.0613	0.0648	5008	,	,		34353	0.0		0.0606	False		,,,				2504	0.045					ENST00000428453.1																			0				central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35										G		15,4341		1,13,2164	117.0	88.0	97.0			-0.6	0.0	15	dbSNP_132	97	57,8419		1,55,4182	no	intergenic				2,68,6346	GG,GC,CC		0.6725,0.3444,0.5611			20588554	72,12760	2178	4238	6416			0							g.chr15:20588554C>G	AF041081		15q11.2	2010-08-02			ENSG00000180229	ENSG00000180229			4871	pseudogene	pseudogene						9730612	Standard	NR_036432		Approved	D15F37S4, LOC283755	uc001ytg.3	Q9BVR0	OTTHUMG00000157175		15.37:g.20588554C>G														0	4196	-									RNA	SNP	ENST00000428453.1	37																																																																																						0.473	HERC2P3-014	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000347772.2	NG_008269		9	287	0	0	0	1	0	9	287				
LOC645752	645752	broad.mit.edu	37	15	78211548	78211548	+	lincRNA	SNP	T	T	C			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr15:78211548T>C	ENST00000565869.1	+	0	111				RN7SL214P_ENST00000487317.2_RNA|RP11-114H24.2_ENST00000567226.1_RNA																							CCACCTGGGATTGGAGCTTTC	0.562																																						ENST00000565869.1																			0																																																			0							g.chr15:78211548T>C																													15.37:g.78211548T>C						RP11-114H24.2_ENST00000567226.1_RNA								0	111	+									RNA	SNP	ENST00000565869.1	37																																																																																						0.562	RP11-114H24.7-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000421587.1			5	562	0	0	0	1	0	5	562				
VPS13B	157680	broad.mit.edu	37	8	100729436	100729436	+	Silent	SNP	C	C	T			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr8:100729436C>T	ENST00000358544.2	+	37	6678	c.6567C>T	c.(6565-6567)aaC>aaT	p.N2189N	VPS13B_ENST00000357162.2_Silent_p.N2164N|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	2189					protein transport (GO:0015031)					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TCAGTATAAACGATTTTCTCC	0.353																																					Colon(161;2205 2542 7338 31318)	ENST00000358544.2																			0				NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193						c.(6565-6567)aaC>aaT		vacuolar protein sorting 13 homolog B (yeast)							58.0	60.0	59.0					8																	100729436		2203	4300	6503	SO:0001819	synonymous_variant	157680				protein transport			g.chr8:100729436C>T	AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.6567C>T	8.37:g.100729436C>T						VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Silent_p.N2164N	p.N2189N	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.00636)		37	6678	+	Breast(36;3.73e-07)		2189					C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Silent	SNP	ENST00000358544.2	37	c.6567C>T	CCDS6280.1																																																																																				0.353	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042		15	208	0	0	0	1	0	15	208				
ABCF3	55324	broad.mit.edu	37	3	183904017	183904017	+	Silent	SNP	C	C	T	rs202156124		TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr3:183904017C>T	ENST00000429586.2	+	1	207	c.22C>T	c.(22-24)Ctg>Ttg	p.L8L	EIF2B5_ENST00000444495.1_Intron|ABCF3_ENST00000292808.5_Silent_p.L8L	NM_018358.2	NP_060828.2	Q9NUQ8	ABCF3_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 3	8					defense response to virus (GO:0051607)	membrane (GO:0016020)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(20)|ovary(3)|prostate(5)|upper_aerodigestive_tract(1)	39	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.35e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CGCCGAAATCCTGCGGAGCGA	0.652													C|||	1	0.000199681	0.0	0.0	5008	,	,		14308	0.0		0.001	False		,,,				2504	0.0					ENST00000429586.2																			0				breast(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(20)|ovary(3)|prostate(5)|upper_aerodigestive_tract(1)	39						c.(22-24)Ctg>Ttg		ATP-binding cassette, sub-family F (GCN20), member 3							67.0	65.0	65.0					3																	183904017		2203	4300	6503	SO:0001819	synonymous_variant	55324						ATP binding|ATPase activity	g.chr3:183904017C>T	U66685	CCDS3254.1	3q27.1	2012-05-16			ENSG00000161204	ENSG00000161204		"""ATP binding cassette transporters / subfamily F"""	72	protein-coding gene	gene with protein product						8894702	Standard	NM_018358		Approved	EST201864	uc003fmz.2	Q9NUQ8	OTTHUMG00000156824	ENST00000429586.2:c.22C>T	3.37:g.183904017C>T						ABCF3_ENST00000292808.5_Silent_p.L8L|EIF2B5_ENST00000444495.1_Intron	p.L8L	NM_018358.2	NP_060828.2	Q9NUQ8	ABCF3_HUMAN	Epithelial(37;2.35e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		1	207	+	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		8					A8K241|Q86UA2|Q8NAN1|Q96GS8|Q9H7A8	Silent	SNP	ENST00000429586.2	37	c.22C>T	CCDS3254.1																																																																																				0.652	ABCF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346047.1	NM_018358		16	306	0	0	0	1	0	16	306				
PARD3B	117583	broad.mit.edu	37	2	205983664	205983664	+	Nonsense_Mutation	SNP	C	C	T			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr2:205983664C>T	ENST00000406610.2	+	7	907	c.700C>T	c.(700-702)Cga>Tga	p.R234*	PARD3B_ENST00000349953.3_Nonsense_Mutation_p.R234*|PARD3B_ENST00000462231.1_Nonsense_Mutation_p.R234*|PARD3B_ENST00000358768.2_Nonsense_Mutation_p.R234*|PARD3B_ENST00000351153.1_Nonsense_Mutation_p.R234*	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta	234	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell cycle (GO:0007049)|cell division (GO:0051301)	membrane (GO:0016020)|tight junction (GO:0005923)				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		ACTCTTCATCCGAGGCATTGA	0.338																																						ENST00000406610.2																			0				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65						c.(700-702)Cga>Tga		par-3 family cell polarity regulator beta							81.0	77.0	78.0					2																	205983664		1835	4085	5920	SO:0001587	stop_gained	117583				cell cycle|cell division	endomembrane system|tight junction		g.chr2:205983664C>T	AB053321	CCDS42804.1, CCDS42805.1, CCDS42806.1	2q33.3	2013-08-28	2013-08-28	2006-09-28	ENSG00000116117	ENSG00000116117			14446	protein-coding gene	gene with protein product			"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 19"", ""par-3 partitioning defective 3 homolog B (C. elegans)"""	ALS2CR19		11586298, 12459187	Standard	NM_057177		Approved	Par3L, PAR3beta	uc002vap.2	Q8TEW8	OTTHUMG00000154562	ENST00000406610.2:c.700C>T	2.37:g.205983664C>T	ENSP00000385848:p.Arg234*					PARD3B_ENST00000349953.3_Nonsense_Mutation_p.R234*|PARD3B_ENST00000358768.2_Nonsense_Mutation_p.R234*|PARD3B_ENST00000462231.1_Nonsense_Mutation_p.R234*|PARD3B_ENST00000351153.1_Nonsense_Mutation_p.R234*	p.R234*	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN		Epithelial(149;0.0739)	7	907	+		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)	234			PDZ 1.		E9PE87|Q8IUC7|Q8IUC9|Q96DK9|Q96N09|Q96NX6|Q96NX7|Q96Q29	Nonsense_Mutation	SNP	ENST00000406610.2	37	c.700C>T		.	.	.	.	.	.	.	.	.	.	C	35	5.441097	0.96187	.	.	ENSG00000116117	ENST00000406610;ENST00000358768;ENST00000351153;ENST00000349953	.	.	.	5.64	4.75	0.60458	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	.	15.9455	0.79789	0.1361:0.8639:0.0:0.0	.	.	.	.	X	234	.	ENSP00000340280:R234X	R	+	1	2	PARD3B	205691909	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.696000	0.54757	1.361000	0.45981	-0.188000	0.12872	CGA		0.338	PARD3B-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000335992.1	NM_057177		6	289	0	0	0	1	0	6	289				
FARSB	10056	broad.mit.edu	37	2	223489170	223489170	+	Silent	SNP	G	G	A			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr2:223489170G>A	ENST00000281828.6	-	12	1254	c.991C>T	c.(991-993)Ctg>Ttg	p.L331L	FARSB_ENST00000536361.1_Silent_p.L232L	NM_005687.3	NP_005678.3	Q9NSD9	SYFB_HUMAN	phenylalanyl-tRNA synthetase, beta subunit	331	B5. {ECO:0000255|PROSITE- ProRule:PRU00816}.				gene expression (GO:0010467)|phenylalanyl-tRNA aminoacylation (GO:0006432)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|phenylalanine-tRNA ligase activity (GO:0004826)|RNA binding (GO:0003723)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	24		Renal(207;0.0183)		Epithelial(121;3.47e-10)|all cancers(144;1.86e-07)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.011)	L-Phenylalanine(DB00120)	ATCCTGGTCAGAAGTTTGGCA	0.338																																						ENST00000281828.6																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	24						c.(991-993)Ctg>Ttg		phenylalanyl-tRNA synthetase, beta subunit	L-Phenylalanine(DB00120)						73.0	71.0	71.0					2																	223489170		2203	4300	6503	SO:0001819	synonymous_variant	10056				phenylalanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|RNA binding	g.chr2:223489170G>A	AF042346	CCDS2454.1	2q36.2	2011-07-01	2007-02-23	2007-02-23	ENSG00000116120	ENSG00000116120	6.1.1.20	"""Aminoacyl tRNA synthetases / Class II"""	17800	protein-coding gene	gene with protein product	"""phenylalanine tRNA ligase 1, beta, cytoplasmic"""	609690	"""phenylalanyl-tRNA synthetase-like, beta subunit"""	FARSLB		10049785	Standard	NM_005687		Approved	PheHB, FRSB	uc002vne.1	Q9NSD9	OTTHUMG00000133155	ENST00000281828.6:c.991C>T	2.37:g.223489170G>A						FARSB_ENST00000536361.1_Silent_p.L232L	p.L331L	NM_005687.3	NP_005678.3	Q9NSD9	SYFB_HUMAN		Epithelial(121;3.47e-10)|all cancers(144;1.86e-07)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.011)	12	1254	-		Renal(207;0.0183)	331			B5.		B4DFM0|O95708|Q4ZFX1|Q57ZJ5|Q9NZZ6	Silent	SNP	ENST00000281828.6	37	c.991C>T	CCDS2454.1																																																																																				0.338	FARSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256855.2	NM_005687		12	204	0	0	0	1	0	12	204				
GAREM	64762	broad.mit.edu	37	18	29848632	29848632	+	Silent	SNP	C	C	T			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr18:29848632C>T	ENST00000269209.6	-	6	1836	c.1833G>A	c.(1831-1833)ccG>ccA	p.P611P	GAREM_ENST00000399218.4_Silent_p.P610P			Q9H706	GAREM_HUMAN	GRB2 associated, regulator of MAPK1	611					cellular response to epidermal growth factor stimulus (GO:0071364)|epidermal growth factor receptor signaling pathway (GO:0007173)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)	plasma membrane (GO:0005886)	proline-rich region binding (GO:0070064)										GACTTCCAAACGGGGATTTCA	0.493																																						ENST00000399218.4																			0											c.(1828-1830)ccG>ccA		GRB2 associated, regulator of MAPK1							76.0	75.0	76.0					18																	29848632		2203	4300	6503	SO:0001819	synonymous_variant	64762							g.chr18:29848632C>T	AK025263	CCDS11905.1, CCDS56057.1	18q12.1	2012-11-30	2012-11-30	2012-11-30	ENSG00000141441	ENSG00000141441			26136	protein-coding gene	gene with protein product	"""Grb2-associated and regulator of Erk/MAPK"""		"""chromosome 18 open reading frame 11"", ""family with sequence similarity 59, member A"""	C18orf11, FAM59A		19509291	Standard	NM_001242409		Approved	FLJ21610	uc002kxl.3	Q9H706	OTTHUMG00000132273	ENST00000269209.6:c.1833G>A	18.37:g.29848632C>T						GAREM_ENST00000269209.6_Silent_p.P611P	p.P610P	NM_001242409.1|NM_022751.2	NP_001229338.1|NP_073588.1					6	1885	-								Q0VAG3|Q0VAG4|Q8ND03|Q9BSF5	Silent	SNP	ENST00000269209.6	37	c.1830G>A	CCDS56057.1																																																																																				0.493	GAREM-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255365.1	NM_022751		21	260	0	0	0	1	0	21	260				
SMU1	55234	broad.mit.edu	37	9	33068870	33068870	+	Silent	SNP	G	G	A	rs113018466		TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr9:33068870G>A	ENST00000397149.3	-	4	503	c.453C>T	c.(451-453)ggC>ggT	p.G151G	SMU1_ENST00000536631.1_5'UTR	NM_018225.2	NP_060695.2	Q2TAY7	SMU1_HUMAN	smu-1 suppressor of mec-8 and unc-52 homolog (C. elegans)	151						cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(2)|lung(4)|ovary(2)|prostate(1)	9			LUSC - Lung squamous cell carcinoma(29;0.0227)	GBM - Glioblastoma multiforme(74;0.11)		CACTGACTTCGCCAGCTAAGG	0.507													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19589	0.0		0.0	False		,,,				2504	0.0					ENST00000397149.3																			0				endometrium(2)|lung(4)|ovary(2)|prostate(1)	9						c.(451-453)ggC>ggT		smu-1 suppressor of mec-8 and unc-52 homolog (C. elegans)		G		10,4396	17.9+/-39.9	0,10,2193	191.0	152.0	166.0		453	-0.1	1.0	9	dbSNP_132	166	0,8600		0,0,4300	no	coding-synonymous	SMU1	NM_018225.2		0,10,6493	AA,AG,GG		0.0,0.227,0.0769		151/514	33068870	10,12996	2203	4300	6503	SO:0001819	synonymous_variant	55234					cytoplasm|nucleus		g.chr9:33068870G>A	AK001667	CCDS6534.1	9p12	2013-01-10			ENSG00000122692	ENSG00000122692		"""WD repeat domain containing"""	18247	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 57"""					11438655, 11410362	Standard	NM_018225		Approved	SMU-1, FLJ10805, BWD, fSAP57	uc003zsf.1	Q2TAY7	OTTHUMG00000019757	ENST00000397149.3:c.453C>T	9.37:g.33068870G>A						SMU1_ENST00000536631.1_5'UTR	p.G151G	NM_018225.2	NP_060695.2	Q2TAY7	SMU1_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0227)	GBM - Glioblastoma multiforme(74;0.11)	4	503	-			151					B4E3L0|Q9BU59|Q9HA96|Q9NVD1	Silent	SNP	ENST00000397149.3	37	c.453C>T	CCDS6534.1																																																																																				0.507	SMU1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052022.1	NM_018225		5	195	0	0	0	1	0	5	195				
AFAP1	60312	broad.mit.edu	37	4	7787976	7787976	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr4:7787976G>A	ENST00000360265.4	-	11	1709	c.1475C>T	c.(1474-1476)gCc>gTc	p.A492V	AFAP1_ENST00000420658.1_Missense_Mutation_p.A492V|AFAP1_ENST00000513842.1_5'UTR|AFAP1_ENST00000382543.3_Missense_Mutation_p.A492V|AFAP1_ENST00000358461.2_Missense_Mutation_p.A492V			Q8N556	AFAP1_HUMAN	actin filament associated protein 1	492						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(4)|stomach(2)	32						GCTGGGGTGGGCATAGCCGTT	0.493																																						ENST00000420658.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(4)|stomach(2)	32						c.(1474-1476)gCc>gTc		actin filament associated protein 1							123.0	120.0	121.0					4																	7787976		2203	4300	6503	SO:0001583	missense	60312					actin cytoskeleton|cytoplasm|focal adhesion	actin binding	g.chr4:7787976G>A	AB209676	CCDS3397.1, CCDS47010.1	4p16	2014-02-12	2007-02-07		ENSG00000196526	ENSG00000196526		"""Pleckstrin homology (PH) domain containing"""	24017	protein-coding gene	gene with protein product		608252				14755689, 11641786, 11607843	Standard	NM_198595		Approved	AFAP-110, AFAP	uc011bwk.1	Q8N556	OTTHUMG00000125515	ENST00000360265.4:c.1475C>T	4.37:g.7787976G>A	ENSP00000353402:p.Ala492Val					AFAP1_ENST00000513842.1_5'UTR|AFAP1_ENST00000382543.3_Missense_Mutation_p.A492V|AFAP1_ENST00000360265.4_Missense_Mutation_p.A492V|AFAP1_ENST00000358461.2_Missense_Mutation_p.A492V	p.A492V	NM_001134647.1	NP_001128119.1	Q8N556	AFAP1_HUMAN			12	1747	-			492					A8K442|B4DMU2|E9PDT7|Q59EY5|Q9HBY1	Missense_Mutation	SNP	ENST00000360265.4	37	c.1475C>T	CCDS3397.1	.	.	.	.	.	.	.	.	.	.	G	31	5.063454	0.93898	.	.	ENSG00000196526	ENST00000360265;ENST00000420658;ENST00000358461;ENST00000382543	T;T;T;T	0.19250	2.16;2.29;2.16;2.29	5.27	5.27	0.74061	.	0.110845	0.64402	D	0.000009	T	0.31295	0.0792	M	0.65975	2.015	0.58432	D	0.999994	P;B	0.51240	0.943;0.282	P;B	0.46144	0.505;0.047	T	0.04635	-1.0937	10	0.24483	T	0.36	-36.1517	18.916	0.92506	0.0:0.0:1.0:0.0	.	492;492	E9PDT7;Q8N556	.;AFAP1_HUMAN	V	492	ENSP00000353402:A492V;ENSP00000410689:A492V;ENSP00000351245:A492V;ENSP00000371983:A492V	ENSP00000351245:A492V	A	-	2	0	AFAP1	7838876	1.000000	0.71417	0.960000	0.40013	0.940000	0.58332	8.762000	0.91711	2.462000	0.83206	0.650000	0.86243	GCC		0.493	AFAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246842.2	NM_021638		5	495	0	0	0	1	0	5	495				
MYLK	4638	broad.mit.edu	37	3	123345771	123345771	+	Missense_Mutation	SNP	G	G	A	rs374662467		TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr3:123345771G>A	ENST00000475616.1	-	28	5131	c.5132C>T	c.(5131-5133)aCg>aTg	p.T1711M	MYLK_ENST00000360304.3_Missense_Mutation_p.T1711M|MYLK_ENST00000359169.1_Missense_Mutation_p.T1660M|MYLK_ENST00000418370.2_5'Flank|MYLK_ENST00000354792.5_Missense_Mutation_p.T511M|MYLK-AS1_ENST00000470449.1_RNA|MYLK_ENST00000360772.3_Missense_Mutation_p.T1660M|MYLK-AS1_ENST00000485162.1_RNA|MYLK_ENST00000346322.5_Missense_Mutation_p.T1642M|MYLK-AS1_ENST00000463408.1_RNA			Q15746	MYLK_HUMAN	myosin light chain kinase	1711	Calmodulin-binding.|Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.			CT -> LA (in Ref. 1; CAA59685). {ECO:0000305}.	actin filament organization (GO:0007015)|aorta smooth muscle tissue morphogenesis (GO:0060414)|bleb assembly (GO:0032060)|cellular hypotonic response (GO:0071476)|muscle contraction (GO:0006936)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|smooth muscle contraction (GO:0006939)|tonic smooth muscle contraction (GO:0014820)	cell-cell junction (GO:0005911)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|metal ion binding (GO:0046872)|myosin light chain kinase activity (GO:0004687)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		AAGGCACTGCGTGCAGTCCAG	0.502													G|||	1	0.000199681	0.0	0.0	5008	,	,		21548	0.001		0.0	False		,,,				2504	0.0					ENST00000360772.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113						c.(4978-4980)aCg>aTg		myosin light chain kinase							104.0	86.0	92.0					3																	123345771		2203	4300	6503	SO:0001583	missense	4638				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity	g.chr3:123345771G>A	X85337	CCDS3023.1, CCDS43141.1, CCDS46896.1, CCDS46897.1, CCDS58849.1	3q21	2013-02-11	2008-01-23		ENSG00000065534	ENSG00000065534	2.7.11.18	"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7590	protein-coding gene	gene with protein product	"""smooth muscle myosin light chain kinase"""	600922	"""myosin, light polypeptide kinase"""			8575746	Standard	NM_053026		Approved	MLCK, smMLCK, MYLK1, MLCK1	uc003ego.3	Q15746	OTTHUMG00000141304	ENST00000475616.1:c.5132C>T	3.37:g.123345771G>A	ENSP00000418335:p.Thr1711Met					MYLK-AS1_ENST00000485162.1_RNA|MYLK_ENST00000346322.5_Missense_Mutation_p.T1642M|MYLK_ENST00000354792.5_Missense_Mutation_p.T511M|MYLK_ENST00000475616.1_Missense_Mutation_p.T1711M|MYLK-AS1_ENST00000463408.1_RNA|MYLK_ENST00000360304.3_Missense_Mutation_p.T1711M|MYLK_ENST00000359169.1_Missense_Mutation_p.T1660M|MYLK-AS1_ENST00000470449.1_RNA	p.T1660M			Q15746	MYLK_HUMAN		GBM - Glioblastoma multiforme(114;0.0736)	31	5357	-		Lung NSC(201;0.0496)	1711			Protein kinase.		B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9	Missense_Mutation	SNP	ENST00000475616.1	37	c.4979C>T	CCDS46896.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.096308	0.76870	.	.	ENSG00000065534	ENST00000360772;ENST00000360304;ENST00000359169;ENST00000346322;ENST00000354792;ENST00000475616	T;T;T;T;T;T	0.66099	1.04;-0.19;1.04;-0.19;-0.19;-0.19	5.22	5.22	0.72569	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.71160	0.3307	L	0.31752	0.955	0.42283	D	0.992105	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.78314	0.978;0.978;0.978;0.978;0.991	T	0.73764	-0.3880	9	0.62326	D	0.03	.	18.9654	0.92694	0.0:0.0:1.0:0.0	.	1711;1591;1660;1642;1711	Q15746-6;Q15746-4;Q15746-3;Q15746-2;Q15746	.;.;.;.;MYLK_HUMAN	M	1660;1711;1660;1642;511;1711	ENSP00000354004:T1660M;ENSP00000353452:T1711M;ENSP00000352088:T1660M;ENSP00000320622:T1642M;ENSP00000346846:T511M;ENSP00000418335:T1711M	ENSP00000320622:T1642M	T	-	2	0	MYLK	124828461	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	5.036000	0.64164	2.732000	0.93576	0.591000	0.81541	ACG		0.502	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356464.1	NM_053025		19	166	0	0	0	1	0	19	166				
KDM6A	7403	broad.mit.edu	37	X	44928823	44928823	+	Splice_Site	SNP	G	G	T			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chrX:44928823G>T	ENST00000377967.4	+	17	1964		c.e17-1		KDM6A_ENST00000382899.4_Splice_Site|KDM6A_ENST00000536777.1_Splice_Site|KDM6A_ENST00000543216.1_Splice_Site	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A						canonical Wnt signaling pathway (GO:0060070)|heart morphogenesis (GO:0003007)|histone H3-K4 methylation (GO:0051568)|in utero embryonic development (GO:0001701)|mesodermal cell differentiation (GO:0048333)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|regulation of gene expression (GO:0010468)|respiratory system process (GO:0003016)|somite rostral/caudal axis specification (GO:0032525)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)	p.0?(6)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						TTTCTTTTTAGGGGCTTCACA	0.378			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""																																Colon(129;1273 1667 15230 27352 52914)	ENST00000377967.4				Rec	yes		X	Xp11.2	7403	"""D, N, F, S"""	"""lysine (K)-specific demethylase 6A, UTX"""			"""E, L"""			"""renal, oesophageal SCC, MM"""		6	Whole gene deletion(6)	p.0?(6)	oesophagus(2)|breast(2)|pancreas(2)	NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						c.e17-1		lysine (K)-specific demethylase 6A							26.0	26.0	26.0					X																	44928823		2200	4295	6495	SO:0001630	splice_region_variant	7403				histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chrX:44928823G>T	AF000992	CCDS14265.1	Xp11.2	2014-09-17	2009-04-17	2009-04-17	ENSG00000147050	ENSG00000147050		"""Chromatin-modifying enzymes / K-demethylases"", ""Tetratricopeptide (TTC) repeat domain containing"""	12637	protein-coding gene	gene with protein product		300128	"""ubiquitously transcribed tetratricopeptide repeat, X chromosome"""	UTX		9499428, 9381176	Standard	XM_005272655		Approved		uc004dge.4	O15550	OTTHUMG00000021402	ENST00000377967.4:c.1924-1G>T	X.37:g.44928823G>T						KDM6A_ENST00000536777.1_Splice_Site|KDM6A_ENST00000382899.4_Splice_Site|KDM6A_ENST00000543216.1_Splice_Site		NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN			17	1964	+								Q52LL9|Q5JVQ7	Splice_Site	SNP	ENST00000377967.4	37		CCDS14265.1	.	.	.	.	.	.	.	.	.	.	G	17.32	3.360767	0.61403	.	.	ENSG00000147050	ENST00000334516;ENST00000377967;ENST00000536777;ENST00000382899;ENST00000543216;ENST00000414389;ENST00000433797	.	.	.	5.08	5.08	0.68730	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.9308	0.88996	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	KDM6A	44813767	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.114000	0.94329	2.255000	0.74692	0.600000	0.82982	.		0.378	KDM6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056324.1	NM_021140	Intron	8	149	1	0	7.48243e-07	1	7.68649e-07	8	149				
HIST1H2BE	8344	broad.mit.edu	37	6	26184241	26184241	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr6:26184241G>A	ENST00000356530.3	+	1	284	c.218G>A	c.(217-219)cGc>cAc	p.R73H		NM_003523.2	NP_003514.2	P62807	H2B1C_HUMAN	histone cluster 1, H2be	73					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|nucleosome assembly (GO:0006334)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(1)|large_intestine(2)|lung(1)	4						ATCTTCGAGCGCATCGCCGGC	0.597																																						ENST00000356530.3																			0				endometrium(1)|large_intestine(2)|lung(1)	4						c.(217-219)cGc>cAc		histone cluster 1, H2be							119.0	116.0	117.0					6																	26184241		2203	4300	6503	SO:0001583	missense	8344				defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding	g.chr6:26184241G>A	Z80780	CCDS4588.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000197697	ENSG00000274290		"""Histones / Replication-dependent"""	4753	protein-coding gene	gene with protein product		602805	"""H2B histone family, member H"", ""histone 1, H2be"""	H2BFH		9119399, 12408966	Standard	NM_003523		Approved	H2B/h, H2B.h	uc003ngt.3	P62807	OTTHUMG00000014427	ENST00000356530.3:c.218G>A	6.37:g.26184241G>A	ENSP00000348924:p.Arg73His						p.R73H	NM_003523.2	NP_003514.2	P62807	H2B1C_HUMAN			1	284	+			73					P02278|Q3B872|Q4VB69|Q93078|Q93080	Missense_Mutation	SNP	ENST00000356530.3	37	c.218G>A	CCDS4588.1	.	.	.	.	.	.	.	.	.	.	.	14.91	2.676040	0.47886	.	.	ENSG00000197697	ENST00000356530	T	0.69561	-0.41	4.96	4.96	0.65561	.	0.000000	0.34555	U	0.003862	T	0.73560	0.3602	.	.	.	0.52501	D	0.999953	.	.	.	.	.	.	T	0.74734	-0.3565	7	0.49607	T	0.09	.	17.6163	0.88068	0.0:0.0:1.0:0.0	.	.	.	.	H	73	ENSP00000348924:R73H	ENSP00000348924:R73H	R	+	2	0	HIST1H2BE	26292220	1.000000	0.71417	1.000000	0.80357	0.091000	0.18340	7.562000	0.82300	2.479000	0.83701	0.537000	0.68136	CGC		0.597	HIST1H2BE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040090.1	NM_003523		7	745	0	0	0	1	0	7	745				
ACTL9	284382	broad.mit.edu	37	19	8808452	8808452	+	Silent	SNP	G	G	A			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr19:8808452G>A	ENST00000324436.3	-	1	720	c.600C>T	c.(598-600)caC>caT	p.H200H		NM_178525.3	NP_848620.3	Q8TC94	ACTL9_HUMAN	actin-like 9	200						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	36						AGGTGACCCCGTGTCCCGTGT	0.672																																						ENST00000324436.3																			0				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	36						c.(598-600)caC>caT		actin-like 9							47.0	44.0	45.0					19																	8808452		2203	4300	6503	SO:0001819	synonymous_variant	284382					cytoplasm|cytoskeleton		g.chr19:8808452G>A		CCDS12207.1	19p13.2	2014-08-08			ENSG00000181786	ENSG00000181786			28494	protein-coding gene	gene with protein product							Standard	NM_178525		Approved	MGC33407	uc002mkl.2	Q8TC94	OTTHUMG00000182194	ENST00000324436.3:c.600C>T	19.37:g.8808452G>A							p.H200H	NM_178525.3	NP_848620.2	Q8TC94	ACTL9_HUMAN			1	720	-			200					A8K893|Q6X960	Silent	SNP	ENST00000324436.3	37	c.600C>T	CCDS12207.1																																																																																				0.672	ACTL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459953.1	NM_178525		19	271	0	0	0	1	0	19	271				
KLK15	55554	broad.mit.edu	37	19	51330383	51330383	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr19:51330383G>A	ENST00000598239.1	-	3	262	c.232C>T	c.(232-234)Cgc>Tgc	p.R78C	KLK15_ENST00000301421.2_Missense_Mutation_p.R78C|KLK15_ENST00000326856.4_Missense_Mutation_p.R77C|KLK15_ENST00000596931.1_Missense_Mutation_p.R77C|KLK15_ENST00000416184.1_Missense_Mutation_p.R78C	NM_017509.2	NP_059979.2	Q9H2R5	KLK15_HUMAN	kallikrein-related peptidase 15	78	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143)		TCGCGCTTGCGCAGGTTGTGC	0.632																																					Pancreas(140;10 2513 7143 9246)	ENST00000326856.4																			0				breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	24						c.(229-231)Cgc>Tgc		kallikrein-related peptidase 15							70.0	61.0	64.0					19																	51330383		2202	4298	6500	SO:0001583	missense	55554				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr19:51330383G>A	AF242195	CCDS12805.1, CCDS12806.1, CCDS12806.2, CCDS62766.1	19q13.4	2008-02-05	2006-10-27			ENSG00000174562		"""Kallikreins"""	20453	protein-coding gene	gene with protein product		610601	"""kallikrein 15"""			11010966, 12439720, 16800724, 16800723	Standard	NM_017509		Approved	HSRNASPH, ACO, prostinogen	uc002ptl.3	Q9H2R5		ENST00000598239.1:c.232C>T	19.37:g.51330383G>A	ENSP00000469315:p.Arg78Cys					KLK15_ENST00000598239.1_Missense_Mutation_p.R78C|KLK15_ENST00000301421.2_Missense_Mutation_p.R78C|KLK15_ENST00000416184.1_Missense_Mutation_p.R78C|KLK15_ENST00000596931.1_Missense_Mutation_p.R77C	p.R77C	NM_001277081.1	NP_001264010.1	Q9H2R5	KLK15_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143)	4	358	-		all_neural(266;0.057)	78			Peptidase S1.		A0AUY8|Q15358|Q6ISI0|Q9H2R3|Q9H2R4|Q9H2R6|Q9HBG9	Missense_Mutation	SNP	ENST00000598239.1	37	c.229C>T	CCDS12805.1	.	.	.	.	.	.	.	.	.	.	G	17.20	3.329160	0.60743	.	.	ENSG00000174562	ENST00000326856;ENST00000416184;ENST00000301421;ENST00000544946	D;D	0.89415	-2.51;-2.51	4.51	4.51	0.55191	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.46442	D	0.000293	D	0.91778	0.7399	L	0.61218	1.895	0.09310	N	1	D;D;D;D	0.89917	1.0;0.999;0.999;0.999	P;P;D;P	0.65987	0.892;0.892;0.94;0.892	D	0.84525	0.0630	10	0.56958	D	0.05	.	10.1981	0.43067	0.0:0.0:0.8015:0.1985	.	78;77;78;78	Q6UBM2;Q6ISI0;Q9H2R5-4;Q9H2R5	.;.;.;KLK15_HUMAN	C	78	ENSP00000415136:R78C;ENSP00000301421:R78C	ENSP00000301421:R78C	R	-	1	0	KLK15	56022195	0.000000	0.05858	0.999000	0.59377	0.951000	0.60555	0.118000	0.15605	2.519000	0.84933	0.561000	0.74099	CGC		0.632	KLK15-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465160.1	NM_017509		8	472	0	0	0	1	0	8	472				
L1CAM	3897	broad.mit.edu	37	X	153130847	153130847	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chrX:153130847G>A	ENST00000370060.1	-	21	2845	c.2656C>T	c.(2656-2658)Cgg>Tgg	p.R886W	L1CAM_ENST00000370055.1_Missense_Mutation_p.R881W|L1CAM_ENST00000361699.4_Missense_Mutation_p.R886W|L1CAM_ENST00000361981.3_Missense_Mutation_p.R881W|L1CAM_ENST00000538883.1_Missense_Mutation_p.R888W|L1CAM_ENST00000370057.3_Missense_Mutation_p.R886W|L1CAM_ENST00000543994.1_Missense_Mutation_p.R888W	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	886	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cell surface receptor signaling pathway (GO:0007166)|cell-cell adhesion mediated by integrin (GO:0033631)|chemotaxis (GO:0006935)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|homotypic cell-cell adhesion (GO:0034109)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|nervous system development (GO:0007399)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	sialic acid binding (GO:0033691)	p.R886W(1)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CTATAGGGCCGCAAGCCACTG	0.612																																						ENST00000370060.1																			1	Substitution - Missense(1)	p.R886W(1)	lung(1)	NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81						c.(2656-2658)Cgg>Tgg		L1 cell adhesion molecule							141.0	114.0	123.0					X																	153130847		2203	4300	6503	SO:0001583	missense	3897				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane		g.chrX:153130847G>A	M74387	CCDS14733.1, CCDS14734.1, CCDS48192.1	Xq28	2014-09-17	2003-04-07		ENSG00000198910	ENSG00000198910		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	6470	protein-coding gene	gene with protein product		308840	"""antigen identified by monoclonal antibody R1"""	HSAS1, SPG1, HSAS, MASA, MIC5, S10			Standard	NM_001278116		Approved	CD171	uc031tks.1	P32004	OTTHUMG00000024221	ENST00000370060.1:c.2656C>T	X.37:g.153130847G>A	ENSP00000359077:p.Arg886Trp					L1CAM_ENST00000361699.4_Missense_Mutation_p.R886W|L1CAM_ENST00000370055.1_Missense_Mutation_p.R881W|L1CAM_ENST00000543994.1_Missense_Mutation_p.R888W|L1CAM_ENST00000538883.1_Missense_Mutation_p.R888W|L1CAM_ENST00000370057.3_Missense_Mutation_p.R886W|L1CAM_ENST00000361981.3_Missense_Mutation_p.R881W	p.R886W	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN			21	2845	-	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		886			Fibronectin type-III 3.		A0AV65|A4ZYW4|B2RMU7|G3XAF4|Q8TA87	Missense_Mutation	SNP	ENST00000370060.1	37	c.2656C>T	CCDS14733.1	.	.	.	.	.	.	.	.	.	.	G	11.63	1.695980	0.30052	.	.	ENSG00000198910	ENST00000370060;ENST00000543994;ENST00000370057;ENST00000538883;ENST00000361981;ENST00000370055;ENST00000361699	T;T;T;T;T;T;T	0.59502	0.26;0.26;0.26;0.26;0.26;0.26;0.26	5.33	1.51	0.23008	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.290733	0.23770	N	0.044730	T	0.49575	0.1565	M	0.68952	2.095	0.39443	D	0.967286	B;B;B	0.26195	0.065;0.144;0.048	B;B;B	0.25405	0.025;0.06;0.043	T	0.43491	-0.9388	10	0.54805	T	0.06	.	5.1621	0.15066	0.1693:0.0:0.2808:0.5499	.	881;886;886	G3XAF4;P32004-2;P32004	.;.;L1CAM_HUMAN	W	886;888;886;888;881;881;886	ENSP00000359077:R886W;ENSP00000438430:R888W;ENSP00000359074:R886W;ENSP00000439645:R888W;ENSP00000354712:R881W;ENSP00000359072:R881W;ENSP00000355380:R886W	ENSP00000355380:R886W	R	-	1	2	L1CAM	152784041	0.135000	0.22499	0.333000	0.25482	0.410000	0.31052	1.255000	0.32909	0.105000	0.17753	0.529000	0.55759	CGG		0.612	L1CAM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061094.2	NM_024003		6	601	0	0	0	1	0	6	601				
MSL2	55167	broad.mit.edu	37	3	135913815	135913815	+	Splice_Site	SNP	G	G	A			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr3:135913815G>A	ENST00000309993.2	-	1	873	c.141C>T	c.(139-141)tgC>tgT	p.C47C	MSL2_ENST00000434835.2_5'Flank	NM_018133.3	NP_060603.2	Q9HCI7	MSL2_HUMAN	male-specific lethal 2 homolog (Drosophila)	47	Sufficient for interaction with MSL1.				chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)	MSL complex (GO:0072487)|nucleoplasm (GO:0005654)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	18						GCGTCTCACCGCAAACACAGC	0.507																																						ENST00000309993.2																			0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	18						c.e1+1		male-specific lethal 2 homolog (Drosophila)							156.0	164.0	161.0					3																	135913815		2203	4300	6503	SO:0001630	splice_region_variant	55167				histone H4-K16 acetylation	MSL complex	zinc ion binding	g.chr3:135913815G>A	AK001408	CCDS33861.1, CCDS46922.1	3q22.2	2008-10-29	2008-10-29	2008-10-29	ENSG00000174579	ENSG00000174579		"""RING-type (C3HC4) zinc fingers"""	25544	protein-coding gene	gene with protein product	"""male-specific lethal-2 homolog (Drosophila)"""	614802	"""ring finger protein 184"", ""male-specific lethal 2-like 1 (Drosophila)"""	RNF184, MSL2L1		16227571, 16543150	Standard	NM_018133		Approved	FLJ10546, KIAA1585, msl-2	uc003eqx.1	Q9HCI7	OTTHUMG00000159793	ENST00000309993.2:c.142+1C>T	3.37:g.135913815G>A							p.C47_splice	NM_018133.3	NP_060603.2	Q9HCI7	MSL2_HUMAN			1	873	-			47					B4DYL4|G5E9I1|Q0D2P1|Q8NDB4|Q9NVS4	Splice_Site	SNP	ENST00000309993.2	37	c.142_splice	CCDS33861.1																																																																																				0.507	MSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357347.1	NM_018133	Silent	7	740	0	0	0	1	0	7	740				
PAQR6	79957	broad.mit.edu	37	1	156215369	156215369	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr1:156215369C>T	ENST00000292291.5	-	5	627	c.469G>A	c.(469-471)Gca>Aca	p.A157T	PAQR6_ENST00000368270.1_Missense_Mutation_p.A133T|PAQR6_ENST00000492619.1_5'UTR|PAQR6_ENST00000356983.2_Missense_Mutation_p.A51T|PAQR6_ENST00000335852.1_Missense_Mutation_p.A51T|PAQR6_ENST00000540423.1_Missense_Mutation_p.A154T	NM_001272104.1|NM_001272105.1|NM_198406.2	NP_001259033.1|NP_001259034.1|NP_940798.1	Q6TCH4	PAQR6_HUMAN	progestin and adipoQ receptor family member VI	157						integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			lung(4)|ovary(1)	5	Hepatocellular(266;0.158)					GAGTTGAGTGCGGCGGCAGGC	0.687																																					GBM(16;219 398 12385 32425 38531)	ENST00000335852.1																			0				lung(4)|ovary(1)	5						c.(151-153)Gca>Aca		progestin and adipoQ receptor family member VI							31.0	35.0	34.0					1																	156215369		2201	4296	6497	SO:0001583	missense	79957					integral to membrane	receptor activity	g.chr1:156215369C>T	AF455045	CCDS1135.1, CCDS1136.1, CCDS60301.1, CCDS72945.1, CCDS72946.1	1q23	2008-02-05			ENSG00000160781	ENSG00000160781			30132	protein-coding gene	gene with protein product		614579				12477932	Standard	NM_024897		Approved	FLJ22672	uc010phh.2	Q6TCH4	OTTHUMG00000017490	ENST00000292291.5:c.469G>A	1.37:g.156215369C>T	ENSP00000292291:p.Ala157Thr					PAQR6_ENST00000540423.1_Missense_Mutation_p.A154T|PAQR6_ENST00000492619.1_5'UTR|PAQR6_ENST00000356983.2_Missense_Mutation_p.A51T|PAQR6_ENST00000368270.1_Missense_Mutation_p.A133T|PAQR6_ENST00000292291.5_Missense_Mutation_p.A157T|PAQR6_ENST00000360733.2_Missense_Mutation_p.A51T	p.A51T	NM_024897.2	NP_079173.2	Q6TCH4	PAQR6_HUMAN			4	766	-	Hepatocellular(266;0.158)		157					B7Z9R9|D3DVB4|D3DVB6|Q5TCK9|Q6PDU0|Q7Z4Q7|Q7Z4Q9|Q8N121|Q8N3M2|Q9H621	Missense_Mutation	SNP	ENST00000292291.5	37	c.151G>A	CCDS1136.1	.	.	.	.	.	.	.	.	.	.	C	14.76	2.630223	0.46944	.	.	ENSG00000160781	ENST00000292291;ENST00000360733;ENST00000335852;ENST00000356983;ENST00000368270;ENST00000540423	T;T;T;T;T;T	0.35605	1.3;1.3;1.3;1.3;1.3;1.3	4.2	3.26	0.37387	.	.	.	.	.	T	0.21801	0.0525	L	0.61036	1.89	0.30241	N	0.795024	P;P;P	0.42584	0.784;0.744;0.784	B;B;B	0.41332	0.121;0.354;0.121	T	0.02942	-1.1091	9	0.33141	T	0.24	.	11.2653	0.49106	0.0:0.9047:0.0:0.0953	.	154;51;157	B7Z9R9;Q6TCH4-2;Q6TCH4	.;.;PAQR6_HUMAN	T	157;51;51;51;133;154	ENSP00000292291:A157T;ENSP00000353961:A51T;ENSP00000338330:A51T;ENSP00000349474:A51T;ENSP00000357253:A133T;ENSP00000443167:A154T	ENSP00000292291:A157T	A	-	1	0	PAQR6	154481993	0.456000	0.25744	0.999000	0.59377	0.785000	0.44390	1.863000	0.39459	2.146000	0.66826	0.462000	0.41574	GCA		0.687	PAQR6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046297.2	NM_024897		5	237	0	0	0	1	0	5	237				
CARD6	84674	broad.mit.edu	37	5	40854341	40854341	+	Silent	SNP	C	C	T			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr5:40854341C>T	ENST00000254691.5	+	3	3106	c.2907C>T	c.(2905-2907)tcC>tcT	p.S969S	CARD6_ENST00000381677.3_Intron	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	969	Pro-rich.				apoptotic process (GO:0006915)|regulation of apoptotic process (GO:0042981)					NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						AACCTAAATCCTCTCAGACAA	0.512																																						ENST00000254691.5																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						c.(2905-2907)tcC>tcT		caspase recruitment domain family, member 6							241.0	264.0	256.0					5																	40854341		2203	4300	6503	SO:0001819	synonymous_variant	84674				apoptosis|regulation of apoptosis	intracellular		g.chr5:40854341C>T	AF356193	CCDS3935.1	5p13.1	2008-05-23			ENSG00000132357	ENSG00000132357			16394	protein-coding gene	gene with protein product		609986				12775719	Standard	NM_032587		Approved	CINCIN1	uc003jmg.3	Q9BX69	OTTHUMG00000094775	ENST00000254691.5:c.2907C>T	5.37:g.40854341C>T						CARD6_ENST00000381677.3_Intron	p.S969S	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN			3	3106	+			969			Pro-rich.		Q52LR2	Silent	SNP	ENST00000254691.5	37	c.2907C>T	CCDS3935.1																																																																																				0.512	CARD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211584.3			43	1100	0	0	0	1	0	43	1100				
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr12:25398284C>T	ENST00000256078.4	-	2	98	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000311936.3_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000311936.3	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"""L, E, M, O"""			"""pancreatic, colorectal, lung, thyroid, AML, others"""	UBE2L3/KRAS(2)	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349						c.(34-36)gGt>gAt		Kirsten rat sarcoma viral oncogene homolog							91.0	81.0	85.0					12																	25398284		2203	4300	6503	SO:0001583	missense	3845	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25398284C>T	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"""v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog"", ""v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"""	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.35G>A	12.37:g.25398284C>T	ENSP00000256078:p.Gly12Asp	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000256078.4_Missense_Mutation_p.G12D	p.G12D	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		2	226	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		12		G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).			A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.35G>A	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409094	0.83340	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85919	0.5809	M	0.91818	3.245	0.80722	D	1	B;P	0.35714	0.385;0.517	B;B	0.41619	0.257;0.361	D	0.87870	0.2670	10	0.87932	D	0	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	D	12	ENSP00000308495:G12D;ENSP00000452512:G12D;ENSP00000256078:G12D;ENSP00000451856:G12D	ENSP00000256078:G12D	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360		8	204	0	0	0	1	0	8	204				
CCDC50	152137	broad.mit.edu	37	3	191098488	191098488	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr3:191098488G>A	ENST00000392455.3	+	7	1175	c.577G>A	c.(577-579)Gac>Aac	p.D193N	CCDC50_ENST00000392456.3_Missense_Mutation_p.D369N	NM_174908.3	NP_777568.1	Q8IVM0	CCD50_HUMAN	coiled-coil domain containing 50	193						cytoplasm (GO:0005737)	ubiquitin protein ligase binding (GO:0031625)			endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|stomach(1)	23	all_cancers(143;8.88e-09)|Ovarian(172;0.103)|Breast(254;0.221)		LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06)	GBM - Glioblastoma multiforme(46;0.000136)		TACCCAGGTGGACATGAGAGC	0.348																																						ENST00000392455.3																			0				endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|stomach(1)	23						c.(577-579)Gac>Aac		coiled-coil domain containing 50							86.0	93.0	91.0					3																	191098488		2203	4300	6503	SO:0001583	missense	152137					cytoplasm	protein binding	g.chr3:191098488G>A	AJ416916	CCDS33912.1, CCDS33913.1	3q28	2010-12-24		2005-12-23	ENSG00000152492	ENSG00000152492			18111	protein-coding gene	gene with protein product		611051	"""deafness, autosomal dominant 44"""	C3orf6, DFNA44		16803894, 17503326	Standard	NM_178335		Approved	Ymer	uc003fsv.3	Q8IVM0	OTTHUMG00000156177	ENST00000392455.3:c.577G>A	3.37:g.191098488G>A	ENSP00000376249:p.Asp193Asn					CCDC50_ENST00000392456.3_Missense_Mutation_p.D369N	p.D193N	NM_174908.3	NP_777568.1	Q8IVM0	CCD50_HUMAN	LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06)	GBM - Glioblastoma multiforme(46;0.000136)	7	1175	+	all_cancers(143;8.88e-09)|Ovarian(172;0.103)|Breast(254;0.221)		193					Q86VH7	Missense_Mutation	SNP	ENST00000392455.3	37	c.577G>A	CCDS33913.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.634726	0.87660	.	.	ENSG00000152492	ENST00000392455;ENST00000392456	T;T	0.55413	0.88;0.52	5.49	5.49	0.81192	.	0.109300	0.64402	D	0.000008	T	0.72930	0.3522	M	0.79258	2.445	0.38906	D	0.957439	D;D	0.89917	0.999;1.0	D;D	0.87578	0.951;0.998	T	0.77768	-0.2464	10	0.87932	D	0	.	14.8753	0.70491	0.0:0.0:1.0:0.0	.	193;369	Q8IVM0;Q8IVM0-2	CCD50_HUMAN;.	N	193;369	ENSP00000376249:D193N;ENSP00000376250:D369N	ENSP00000376249:D193N	D	+	1	0	CCDC50	192581182	1.000000	0.71417	0.994000	0.49952	0.975000	0.68041	5.382000	0.66213	2.576000	0.86940	0.591000	0.81541	GAC		0.348	CCDC50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343315.1	NM_174908		7	138	0	0	0	1	0	7	138				
PCDHA3	56145	broad.mit.edu	37	5	140183013	140183013	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr5:140183013C>T	ENST00000522353.2	+	1	2231	c.2231C>T	c.(2230-2232)gCg>gTg	p.A744V	PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.A744V|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000520672.2_Intron	NM_018906.2	NP_061729.1	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3	744	6 X 4 AA repeats of P-X-X-P.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCTCCAGCGCGGTGGGGAGC	0.637																																						ENST00000522353.2																			0				NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95						c.(2230-2232)gCg>gTg									78.0	85.0	83.0					5																	140183013		2203	4300	6503	SO:0001583	missense	0							g.chr5:140183013C>T	AF152481	CCDS54915.1	5q31	2010-11-26				ENSG00000255408		"""Cadherins / Protocadherins : Clustered"""	8669	other	complex locus constituent	"""KIAA0345-like 11"""	606309				10380929	Standard	NM_018906		Approved	PCDH-ALPHA3		Q9Y5H8		ENST00000522353.2:c.2231C>T	5.37:g.140183013C>T	ENSP00000429808:p.Ala744Val					PCDHA3_ENST00000532566.2_Missense_Mutation_p.A744V|PCDHA2_ENST00000520672.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron	p.A744V	NM_018906.2	NP_061729.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2231	+								O75286	Missense_Mutation	SNP	ENST00000522353.2	37	c.2231C>T	CCDS54915.1	.	.	.	.	.	.	.	.	.	.	c	20.5	3.999339	0.74818	.	.	ENSG00000255408	ENST00000522353;ENST00000532566	T;T	0.76709	-1.04;-1.04	4.16	3.22	0.36961	.	0.177603	0.26187	U	0.025825	D	0.85974	0.5822	M	0.93550	3.43	0.21020	N	0.999808	D;P	0.62365	0.991;0.714	P;B	0.56216	0.794;0.285	T	0.77048	-0.2732	10	0.34782	T	0.22	.	7.9252	0.29870	0.2451:0.6621:0.0:0.0928	.	744;744	Q9Y5H8-2;Q9Y5H8	.;PCDA3_HUMAN	V	744	ENSP00000429808:A744V;ENSP00000434086:A744V	ENSP00000429808:A744V	A	+	2	0	PCDHA3	140163197	0.005000	0.15991	1.000000	0.80357	0.975000	0.68041	0.359000	0.20233	2.039000	0.60335	0.467000	0.42956	GCG		0.637	PCDHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372848.2	NM_018906		23	468	0	0	0	1	0	23	468				
GRIP2	80852	broad.mit.edu	37	3	14552768	14552768	+	RNA	SNP	C	C	T	rs566897826		TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr3:14552768C>T	ENST00000273083.3	-	0	1902							Q9C0E4	GRIP2_HUMAN	glutamate receptor interacting protein 2						synaptic transmission (GO:0007268)	cytosol (GO:0005829)|plasma membrane (GO:0005886)				endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25						GTTGTCCAGGCGGATATTGTC	0.612													C|||	1	0.000199681	0.0	0.0	5008	,	,		19876	0.0		0.0	False		,,,				2504	0.001					ENST00000273083.3																			0				endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25								glutamate receptor interacting protein 2							80.0	83.0	82.0					3																	14552768		2073	4209	6282			80852				synaptic transmission	cytosol|plasma membrane	protein binding	g.chr3:14552768C>T	AB051506		3p24-p23	2012-02-08			ENSG00000144596	ENSG00000144596			23841	protein-coding gene	gene with protein product							Standard	NM_001080423		Approved	KIAA1719	uc021wtn.1	Q9C0E4	OTTHUMG00000155544		3.37:g.14552768C>T										Q9C0E4	GRIP2_HUMAN			0	1902	-								Q8TEH9|Q9H7H3	RNA	SNP	ENST00000273083.3	37																																																																																						0.612	GRIP2-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000340582.2	NM_001080423		16	158	0	0	0	1	0	16	158				
LINC00969	440993	broad.mit.edu	37	3	195400728	195400728	+	lincRNA	SNP	A	A	G	rs12107841	byFrequency	TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr3:195400728A>G	ENST00000445430.1	+	0	1324									long intergenic non-protein coding RNA 969																		GATTGTGCCCAGCCTGTACGC	0.587																																						ENST00000445430.1																			0																																																			0							g.chr3:195400728A>G	AK128346		3q29	2013-06-07			ENSG00000242086	ENSG00000242086		"""Long non-coding RNAs"""	48729	non-coding RNA	RNA, long non-coding							Standard	XR_427455		Approved				OTTHUMG00000155834		3.37:g.195400728A>G														0	1324	+									RNA	SNP	ENST00000445430.1	37																																																																																						0.587	LINC00969-038	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000341951.1			9	204	0	0	0	1	0	9	204				
CSE1L	1434	broad.mit.edu	37	20	47704596	47704596	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr20:47704596C>T	ENST00000262982.2	+	17	1897	c.1774C>T	c.(1774-1776)Cct>Tct	p.P592S	CSE1L_ENST00000396192.3_Missense_Mutation_p.P536S|CSE1L_ENST00000542325.1_Missense_Mutation_p.P375S	NM_001256135.1|NM_001316.3	NP_001243064.1|NP_001307.2	P55060	XPO2_HUMAN	CSE1 chromosome segregation 1-like (yeast)	592					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	importin-alpha export receptor activity (GO:0008262)			breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	35			BRCA - Breast invasive adenocarcinoma(12;0.000491)|Colorectal(8;0.198)			CCCCTACATCCCTACTCTCAT	0.358																																						ENST00000262982.2																			0				breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	35						c.(1774-1776)Cct>Tct		CSE1 chromosome segregation 1-like (yeast)							98.0	94.0	96.0					20																	47704596		2203	4300	6503	SO:0001583	missense	1434				apoptosis|cell proliferation|intracellular protein transport	cytoplasm|nucleus	importin-alpha export receptor activity	g.chr20:47704596C>T	U33286	CCDS13412.1, CCDS58773.1	20q13	2013-05-01	2001-11-28		ENSG00000124207	ENSG00000124207		"""Exportins"""	2431	protein-coding gene	gene with protein product	"""cellular apoptosis susceptibility"""	601342	"""chromosome segregation 1 (yeast homolog)-like"""			8963895, 7479798	Standard	NM_001316		Approved	CAS, XPO2, CSE1	uc002xty.4	P55060	OTTHUMG00000033046	ENST00000262982.2:c.1774C>T	20.37:g.47704596C>T	ENSP00000262982:p.Pro592Ser					CSE1L_ENST00000396192.3_Missense_Mutation_p.P536S|CSE1L_ENST00000542325.1_Missense_Mutation_p.P375S	p.P592S	NM_001256135.1|NM_001316.3	NP_001243064.1|NP_001307.2	P55060	XPO2_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.000491)|Colorectal(8;0.198)		17	1897	+			592					A3RLL6|B2R5T4|E1P5Y0|F8W904|O75432|Q32M40|Q9H5B7|Q9NTS0|Q9UP98|Q9UP99|Q9UPA0	Missense_Mutation	SNP	ENST00000262982.2	37	c.1774C>T	CCDS13412.1	.	.	.	.	.	.	.	.	.	.	C	12.85	2.061197	0.36373	.	.	ENSG00000124207	ENST00000417408;ENST00000262982;ENST00000542325;ENST00000396192	T;T;T	0.66280	-0.2;-0.2;-0.2	5.57	4.62	0.57501	Armadillo-like helical (1);Armadillo-type fold (1);CAS/CSE, C-terminal (1);	0.047464	0.85682	D	0.000000	T	0.53997	0.1831	L	0.41632	1.29	0.80722	D	1	P;P;B;B;P	0.41345	0.57;0.746;0.017;0.032;0.746	B;B;B;B;B	0.41988	0.255;0.372;0.105;0.064;0.372	T	0.50541	-0.8816	10	0.08599	T	0.76	-9.7713	16.5517	0.84474	0.0:0.8694:0.1306:0.0	.	281;375;536;536;592	F5GX54;B4DUC5;A3RLL6;F8W904;P55060	.;.;.;.;XPO2_HUMAN	S	190;592;375;536	ENSP00000262982:P592S;ENSP00000446477:P375S;ENSP00000379495:P536S	ENSP00000262982:P592S	P	+	1	0	CSE1L	47138003	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.689000	0.68234	1.336000	0.45506	-0.172000	0.13284	CCT		0.358	CSE1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080345.2	NM_001316		18	273	0	0	0	1	0	18	273				
TYW1	55253	broad.mit.edu	37	7	66474575	66474575	+	Silent	SNP	C	C	T	rs376806090		TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr7:66474575C>T	ENST00000359626.5	+	4	443	c.279C>T	c.(277-279)ttC>ttT	p.F93F		NM_018264.2	NP_060734.2	Q9NV66	TYW1_HUMAN	tRNA-yW synthesizing protein 1 homolog (S. cerevisiae)	93	Flavodoxin-like. {ECO:0000255|PROSITE- ProRule:PRU00088}.				tRNA processing (GO:0008033)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|FMN binding (GO:0010181)|iron ion binding (GO:0005506)|lyase activity (GO:0016829)|oxidoreductase activity (GO:0016491)			breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2)	46		Lung NSC(55;0.0846)|all_lung(88;0.183)				ATTAGGGATTCGCAACAGTTC	0.398																																						ENST00000359626.5																			0				breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2)	46						c.(277-279)ttC>ttT		tRNA-yW synthesizing protein 1 homolog (S. cerevisiae)							134.0	119.0	124.0					7																	66474575		2203	4300	6503	SO:0001819	synonymous_variant	55253				tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity	g.chr7:66474575C>T	AK001762	CCDS5538.1	7q11.21	2007-11-29	2007-11-29	2007-11-29	ENSG00000198874	ENSG00000198874			25598	protein-coding gene	gene with protein product	"""tRNA-yW synthesizing protein 1 homolog A (S. cerevisiae)"""	611243	"""radical S-adenosyl methionine and flavodoxin domains 1"""	RSAFD1		16162496, 17150819	Standard	NM_018264		Approved	FLJ10900, MGC23001, MGC60291, YPL207W, TYW1A	uc003tvn.4	Q9NV66	OTTHUMG00000129723	ENST00000359626.5:c.279C>T	7.37:g.66474575C>T							p.F93F	NM_018264.2	NP_060734.2	Q9NV66	TYW1_HUMAN			4	443	+		Lung NSC(55;0.0846)|all_lung(88;0.183)	93			Flavodoxin-like.		Q6PJG8|Q75MG8|Q75MN3|Q86V12|Q8IVS7|Q9H9C4	Silent	SNP	ENST00000359626.5	37	c.279C>T	CCDS5538.1																																																																																				0.398	TYW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251932.2	NM_018264		9	308	0	0	0	1	0	9	308				
TNN	63923	broad.mit.edu	37	1	175086302	175086302	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr1:175086302G>A	ENST00000239462.4	+	10	2460	c.2347G>A	c.(2347-2349)Gcc>Acc	p.A783T		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	783	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonogenesis (GO:0007409)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		CCAGAAGGGGGCCCAGGAGAG	0.577																																						ENST00000239462.4																			0				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156						c.(2347-2349)Gcc>Acc		tenascin N							84.0	83.0	84.0					1																	175086302		2203	4300	6503	SO:0001583	missense	63923				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix		g.chr1:175086302G>A	AK127044	CCDS30943.1	1q23-q24	2013-02-11			ENSG00000120332	ENSG00000120332		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	22942	protein-coding gene	gene with protein product							Standard	NM_022093		Approved		uc001gkl.1	Q9UQP3	OTTHUMG00000034882	ENST00000239462.4:c.2347G>A	1.37:g.175086302G>A	ENSP00000239462:p.Ala783Thr						p.A783T	NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)	10	2460	+		Breast(1374;0.000962)	783			Fibronectin type-III 6.		B9EGP3|Q5R360	Missense_Mutation	SNP	ENST00000239462.4	37	c.2347G>A	CCDS30943.1	.	.	.	.	.	.	.	.	.	.	G	3.056	-0.194227	0.06259	.	.	ENSG00000120332	ENST00000239462;ENST00000539081	T	0.58358	0.34	5.37	-6.03	0.02185	Fibronectin, type III (4);Immunoglobulin-like fold (1);	1.976720	0.01961	N	0.043375	T	0.26738	0.0654	N	0.11870	0.19	0.09310	N	1	B	0.12630	0.006	B	0.21360	0.034	T	0.38200	-0.9672	10	0.02654	T	1	.	5.9009	0.18965	0.5468:0.0:0.1284:0.3248	.	783	Q9UQP3	TENN_HUMAN	T	783;606	ENSP00000239462:A783T	ENSP00000239462:A783T	A	+	1	0	TNN	173352925	0.000000	0.05858	0.000000	0.03702	0.770000	0.43624	-0.782000	0.04643	-1.089000	0.03073	-0.857000	0.03018	GCC		0.577	TNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084422.1	XM_040527		5	382	0	0	0	1	0	5	382				
ASXL1	171023	broad.mit.edu	37	20	31023733	31023733	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr20:31023733G>A	ENST00000375687.4	+	13	3642	c.3218G>A	c.(3217-3219)cGc>cAc	p.R1073H	ASXL1_ENST00000306058.5_Missense_Mutation_p.R1068H	NM_015338.5	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like transcriptional regulator 1	1073					bone development (GO:0060348)|monoubiquitinated histone H2A deubiquitination (GO:0035522)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035359)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to retinoic acid (GO:0032526)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|PR-DUB complex (GO:0035517)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)|retinoic acid receptor binding (GO:0042974)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						TGTGCGGTCCGCCAAAAGATC	0.572			"""F, N, Mis"""		"""MDS, CMML"""																																	ENST00000375687.4				Rec	yes		20	20q11.1	171023	"""F, N, Mis"""	additional sex combs like 1			L			"""MDS, CMML"""		0				NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						c.(3217-3219)cGc>cAc		additional sex combs like 1 (Drosophila)							126.0	105.0	112.0					20																	31023733		2203	4300	6503	SO:0001583	missense	171023				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding	g.chr20:31023733G>A	AJ438952	CCDS13201.1	20q11	2014-09-17	2014-06-17		ENSG00000171456	ENSG00000171456			18318	protein-coding gene	gene with protein product		612990	"""additional sex combs like 1 (Drosophila)"""			12657473	Standard	NM_015338		Approved	KIAA0978	uc002wxs.3	Q8IXJ9	OTTHUMG00000032218	ENST00000375687.4:c.3218G>A	20.37:g.31023733G>A	ENSP00000364839:p.Arg1073His					ASXL1_ENST00000306058.5_Missense_Mutation_p.R1068H	p.R1073H	NM_015338.5	NP_056153.2	Q8IXJ9	ASXL1_HUMAN			13	3642	+			1073					B2RP59|Q5JWS9|Q8IYY7|Q9H466|Q9NQF8|Q9UFJ0|Q9UFP8|Q9Y2I4	Missense_Mutation	SNP	ENST00000375687.4	37	c.3218G>A	CCDS13201.1	.	.	.	.	.	.	.	.	.	.	G	14.42	2.530985	0.45073	.	.	ENSG00000171456	ENST00000358956;ENST00000375687;ENST00000421155;ENST00000412498;ENST00000306058	T;T	0.32515	1.45;1.45	4.17	3.22	0.36961	.	0.398033	0.27696	N	0.018224	T	0.14356	0.0347	N	0.14661	0.345	0.27406	N	0.954705	P;P	0.46327	0.733;0.876	B;B	0.28638	0.092;0.082	T	0.11203	-1.0597	10	0.66056	D	0.02	-8.1008	13.3344	0.60509	0.0:0.8381:0.1619:0.0	.	1068;1073	A6NIZ6;Q8IXJ9	.;ASXL1_HUMAN	H	1073;1073;1073;994;1068	ENSP00000364839:R1073H;ENSP00000305119:R1068H	ENSP00000305119:R1068H	R	+	2	0	ASXL1	30487394	0.043000	0.20138	0.202000	0.23494	0.973000	0.67179	1.798000	0.38814	1.347000	0.45714	-0.270000	0.10280	CGC		0.572	ASXL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078624.2	NM_015338		9	427	0	0	0	1	0	9	427				
NCOA6	23054	broad.mit.edu	37	20	33345744	33345744	+	Silent	SNP	C	C	T			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr20:33345744C>T	ENST00000374796.2	-	8	3377	c.807G>A	c.(805-807)caG>caA	p.Q269Q	NCOA6_ENST00000359003.2_Silent_p.Q269Q			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	269	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)	p.Q269Q(15)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						gctgctgctgctgttgttgtt	0.537																																						ENST00000374796.2																			15	Substitution - coding silent(15)	p.Q269Q(15)	lung(5)|prostate(4)|endometrium(3)|central_nervous_system(1)|urinary_tract(1)|kidney(1)	NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						c.(805-807)caG>caA		nuclear receptor coactivator 6							64.0	52.0	56.0					20																	33345744		2203	4300	6503	SO:0001819	synonymous_variant	23054				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	g.chr20:33345744C>T	AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"""nuclear receptor coactivator RAP250"", ""activating signal cointegrator-2"", ""peroxisome proliferator-activated receptor interacting protein"""	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.807G>A	20.37:g.33345744C>T						NCOA6_ENST00000359003.2_Silent_p.Q269Q	p.Q269Q			Q14686	NCOA6_HUMAN			8	3377	-			269			CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.		A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Silent	SNP	ENST00000374796.2	37	c.807G>A	CCDS13241.1																																																																																				0.537	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2	NM_014071		5	182	0	0	0	1	0	5	182				
FHOD3	80206	broad.mit.edu	37	18	34205579	34205579	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr18:34205579C>T	ENST00000359247.4	+	10	1063	c.1063C>T	c.(1063-1065)Cgg>Tgg	p.R355W	FHOD3_ENST00000591635.1_Silent_p.T29T|FHOD3_ENST00000590592.1_Missense_Mutation_p.R355W|FHOD3_ENST00000445677.1_Missense_Mutation_p.R355W|FHOD3_ENST00000257209.4_Missense_Mutation_p.R355W	NM_001281739.1	NP_001268668.1	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	355	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				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)		p.R355W(1)		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)				AGGCGAGCACCGGGGCCTGGA	0.697																																						ENST00000257209.4																			1	Substitution - Missense(1)	p.R355W(1)	large_intestine(1)	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.(1063-1065)Cgg>Tgg		formin homology 2 domain containing 3							44.0	49.0	47.0					18																	34205579		2203	4299	6502	SO:0001583	missense	80206				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	g.chr18:34205579C>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.1063C>T	18.37:g.34205579C>T	ENSP00000352186:p.Arg355Trp					FHOD3_ENST00000590592.1_Missense_Mutation_p.R355W|FHOD3_ENST00000359247.4_Missense_Mutation_p.R355W|FHOD3_ENST00000591635.1_Silent_p.T29T|FHOD3_ENST00000445677.1_Missense_Mutation_p.R355W	p.R355W	NM_025135.2	NP_079411.2	Q2V2M9	FHOD3_HUMAN			10	1185	+		all_epithelial(2;0.0181)|Colorectal(2;0.0195)	355			GBD/FH3.		A8MQT4|E5F5Q0|Q642I2|Q6ZRQ7|Q86TF9|Q8N3A5|Q9C0G8|Q9H604|Q9H6G7	Missense_Mutation	SNP	ENST00000359247.4	37	c.1063C>T		.	.	.	.	.	.	.	.	.	.	C	20.8	4.056169	0.76074	.	.	ENSG00000134775	ENST00000257209;ENST00000359247;ENST00000445677	T;T;T	0.35236	1.33;1.33;1.32	5.28	5.28	0.74379	GTPase-binding/formin homology 3 (1);Armadillo-type fold (1);	0.269957	0.36167	N	0.002746	T	0.44891	0.1315	L	0.58101	1.795	0.32709	N	0.51179	D;D;D;D	0.71674	0.986;0.994;0.994;0.998	P;P;P;P	0.51657	0.471;0.614;0.502;0.676	T	0.61554	-0.7039	10	0.87932	D	0	.	11.5603	0.50772	0.1781:0.8219:0.0:0.0	.	355;355;355;355	Q2V2M9-2;Q2V2M9;Q2V2M9-3;E5F5Q0	.;FHOD3_HUMAN;.;.	W	355	ENSP00000257209:R355W;ENSP00000352186:R355W;ENSP00000411430:R355W	ENSP00000257209:R355W	R	+	1	2	FHOD3	32459577	1.000000	0.71417	0.114000	0.21550	0.842000	0.47809	3.935000	0.56560	2.469000	0.83416	0.655000	0.94253	CGG		0.697	FHOD3-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460884.1	XM_371114		11	271	0	0	0	1	0	11	271				
MAML3	55534	broad.mit.edu	37	4	140811117	140811117	+	Silent	SNP	C	C	T	rs62344938		TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr4:140811117C>T	ENST00000509479.2	-	2	2329	c.1473G>A	c.(1471-1473)caG>caA	p.Q491Q	MAML3_ENST00000398940.1_Silent_p.Q30Q|MAML3_ENST00000327122.5_Silent_p.Q335Q	NM_018717.4	NP_061187			mastermind-like 3 (Drosophila)											breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					gctgctgctgctgctgttgct	0.547																																						ENST00000509479.2																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25						c.(1471-1473)caG>caA		mastermind-like 3 (Drosophila)							16.0	20.0	18.0					4																	140811117		2191	4287	6478	SO:0001819	synonymous_variant	55534				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity	g.chr4:140811117C>T	AB058719	CCDS54805.1	4q31.1	2014-08-12	2003-09-24		ENSG00000196782	ENSG00000196782			16272	protein-coding gene	gene with protein product	"""mastermind (drosophila)-like 3"""	608991	"""trinucleotide repeat containing 3"""	TNRC3		12370315, 12386158	Standard	NM_018717		Approved	KIAA1816, MAM2, CAGH3, GDN	uc021xsg.1	Q96JK9	OTTHUMG00000161441	ENST00000509479.2:c.1473G>A	4.37:g.140811117C>T						MAML3_ENST00000398940.1_Silent_p.Q30Q|MAML3_ENST00000327122.5_Silent_p.Q335Q	p.Q491Q	NM_018717.4	NP_061187.2	Q96JK9	MAML3_HUMAN			2	2329	-	all_hematologic(180;0.162)		491			Gln-rich.			Silent	SNP	ENST00000509479.2	37	c.1473G>A	CCDS54805.1																																																																																				0.547	MAML3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364934.2			6	123	0	0	0	1	0	6	123				
MGAT3	4248	broad.mit.edu	37	22	39884148	39884148	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr22:39884148C>T	ENST00000341184.6	+	2	1011	c.796C>T	c.(796-798)Cgc>Tgc	p.R266C		NM_001098270.1|NM_002409.4	NP_001091740.1|NP_002400.3	Q09327	MGAT3_HUMAN	mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase	266					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity (GO:0003830)			endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|prostate(1)|skin(1)	24	Melanoma(58;0.04)					CGAGTACATCCGCCACAAGGT	0.637																																						ENST00000341184.6																			0				endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|prostate(1)|skin(1)	24						c.(796-798)Cgc>Tgc		mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase							55.0	54.0	54.0					22																	39884148		2202	4300	6502	SO:0001583	missense	4248				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity	g.chr22:39884148C>T	D13789	CCDS13994.2	22q13.1	2013-02-25			ENSG00000128268	ENSG00000128268	2.4.1.144	"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	7046	protein-coding gene	gene with protein product		604621				8370666	Standard	NM_002409		Approved	GNT-III	uc010gxy.3	Q09327	OTTHUMG00000030185	ENST00000341184.6:c.796C>T	22.37:g.39884148C>T	ENSP00000345270:p.Arg266Cys						p.R266C	NM_001098270.1|NM_002409.4	NP_001091740.1|NP_002400.3	Q09327	MGAT3_HUMAN			2	1011	+	Melanoma(58;0.04)		266					A6NGD0|Q14CK5|Q6IC49|Q9UH32	Missense_Mutation	SNP	ENST00000341184.6	37	c.796C>T	CCDS13994.2	.	.	.	.	.	.	.	.	.	.	C	23.2	4.388329	0.82902	.	.	ENSG00000128268	ENST00000341184	.	.	.	5.43	5.43	0.79202	.	0.065075	0.64402	D	0.000012	T	0.65873	0.2733	L	0.43152	1.355	0.58432	D	0.999995	D	0.76494	0.999	P	0.60609	0.877	T	0.68070	-0.5506	9	0.72032	D	0.01	.	14.1179	0.65167	0.1502:0.8498:0.0:0.0	.	266	Q09327	MGAT3_HUMAN	C	266	.	ENSP00000345270:R266C	R	+	1	0	MGAT3	38214094	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.306000	0.59117	2.571000	0.86741	0.561000	0.74099	CGC		0.637	MGAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075039.2	NM_002409		7	430	0	0	0	1	0	7	430				
FETUB	26998	broad.mit.edu	37	3	186370361	186370361	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr3:186370361C>T	ENST00000265029.3	+	7	1191	c.1090C>T	c.(1090-1092)Cgc>Tgc	p.R364C	FETUB_ENST00000539949.1_Missense_Mutation_p.R216C|FETUB_ENST00000450521.1_Missense_Mutation_p.R364C|FETUB_ENST00000382134.3_Missense_Mutation_p.R299C|RP11-134F2.2_ENST00000428501.1_RNA|FETUB_ENST00000382136.3_Missense_Mutation_p.R327C|RP11-134F2.2_ENST00000455926.1_RNA	NM_014375.2	NP_055190.2	Q9UGM5	FETUB_HUMAN	fetuin B	364					binding of sperm to zona pellucida (GO:0007339)|negative regulation of endopeptidase activity (GO:0010951)|single fertilization (GO:0007338)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|metalloendopeptidase inhibitor activity (GO:0008191)	p.R364C(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)	20	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0479)		AGAAAAAGCACGCACTGCTGA	0.562																																						ENST00000265029.3																			1	Substitution - Missense(1)	p.R364C(1)	large_intestine(1)	endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)	20						c.(1090-1092)Cgc>Tgc		fetuin B							51.0	55.0	54.0					3																	186370361		2203	4300	6503	SO:0001583	missense	26998					extracellular space	cysteine-type endopeptidase inhibitor activity	g.chr3:186370361C>T	AJ242928	CCDS3279.1	3q27.3	2008-05-15			ENSG00000090512	ENSG00000090512			3658	protein-coding gene	gene with protein product		605954				10947975	Standard	XM_005247350		Approved		uc003fqn.3	Q9UGM5	OTTHUMG00000156586	ENST00000265029.3:c.1090C>T	3.37:g.186370361C>T	ENSP00000265029:p.Arg364Cys					FETUB_ENST00000382134.3_Missense_Mutation_p.R299C|FETUB_ENST00000382136.3_Missense_Mutation_p.R327C|FETUB_ENST00000539949.1_Missense_Mutation_p.R216C|RP11-134F2.2_ENST00000455926.1_RNA|FETUB_ENST00000450521.1_Missense_Mutation_p.R364C|RP11-134F2.2_ENST00000428501.1_RNA	p.R364C	NM_014375.2	NP_055190.2	Q9UGM5	FETUB_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0479)	7	1191	+	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		364					B2RCW6|E9PG06|Q1RMZ0|Q5J876|Q6DK58|Q6GRB6|Q9Y6Z0	Missense_Mutation	SNP	ENST00000265029.3	37	c.1090C>T	CCDS3279.1	.	.	.	.	.	.	.	.	.	.	C	14.97	2.694262	0.48202	.	.	ENSG00000090512	ENST00000450521;ENST00000539949;ENST00000265029;ENST00000382134;ENST00000382136	T;T;T;T;T	0.62788	-0.0;-0.0;-0.0;-0.0;-0.0	4.27	2.33	0.28932	.	0.527286	0.17286	N	0.179826	T	0.70979	0.3286	M	0.69823	2.125	0.09310	N	0.999991	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.66602	0.92;0.945;0.91	T	0.58707	-0.7589	10	0.87932	D	0	-7.428	4.7449	0.13033	0.2128:0.6758:0.0:0.1115	.	327;299;364	E9PG06;E9PG08;Q9UGM5	.;.;FETUB_HUMAN	C	364;216;364;299;327	ENSP00000404288:R364C;ENSP00000443704:R216C;ENSP00000265029:R364C;ENSP00000371569:R299C;ENSP00000371571:R327C	ENSP00000265029:R364C	R	+	1	0	FETUB	187853055	0.000000	0.05858	0.170000	0.22879	0.001000	0.01503	0.050000	0.14120	1.169000	0.42739	-0.140000	0.14226	CGC		0.562	FETUB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344679.1	NM_014375		7	340	0	0	0	1	0	7	340				
SPHKAP	80309	broad.mit.edu	37	2	228882726	228882726	+	Silent	SNP	G	G	A			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr2:228882726G>A	ENST00000392056.3	-	7	2890	c.2844C>T	c.(2842-2844)tgC>tgT	p.C948C	SPHKAP_ENST00000344657.5_Silent_p.C948C	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	948						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		AGTTGTCAAGGCAAATCGCTG	0.478																																						ENST00000392056.3																			0				NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185						c.(2842-2844)tgC>tgT		SPHK1 interactor, AKAP domain containing							137.0	124.0	128.0					2																	228882726		2203	4300	6503	SO:0001819	synonymous_variant	80309					cytoplasm	protein binding	g.chr2:228882726G>A		CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"""A-kinase anchor proteins"""	30619	protein-coding gene	gene with protein product	"""sphingosine kinase type 1-interacting protein"""	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.2844C>T	2.37:g.228882726G>A						SPHKAP_ENST00000344657.5_Silent_p.C948C	p.C948C	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)	7	2890	-		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)	948					Q68DA3|Q68DR8|Q9C0I5	Silent	SNP	ENST00000392056.3	37	c.2844C>T	CCDS46537.1																																																																																				0.478	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	NM_030623		5	531	0	0	0	1	0	5	531				
SSPO	23145	broad.mit.edu	37	7	149477126	149477126	+	RNA	SNP	C	C	T	rs376652882	byFrequency	TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr7:149477126C>T	ENST00000378016.2	+	0	1303							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GCAAGAGGGGCGGCAGCAGGC	0.637													c|||	2	0.000399361	0.0015	0.0	5008	,	,		18259	0.0		0.0	False		,,,				2504	0.0					ENST00000378016.2																			0													SCO-spondin		T		4,4092		0,4,2044	30.0	32.0	31.0		1305	2.4	0.0	7		31	0,8354		0,0,4177	no	coding-notMod3	SSPO	NM_198455.2		0,4,6221	TT,TC,CC		0.0,0.0977,0.0321			149477126	4,12446	2048	4177	6225			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149477126C>T	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149477126C>T										A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		0	1303	+	Melanoma(164;0.165)|Ovarian(565;0.177)							Q76B61	RNA	SNP	ENST00000378016.2	37																																																																																						0.637	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				5	74	0	0	0	1	0	5	74				
ZNF845	91664	broad.mit.edu	37	19	53856730	53856730	+	Silent	SNP	G	G	A	rs201351032	byFrequency	TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr19:53856730G>A	ENST00000595091.1	+	5	3021	c.2802G>A	c.(2800-2802)aaG>aaA	p.K934K	ZNF845_ENST00000458035.1_Silent_p.K934K			Q96IR2	ZN845_HUMAN	zinc finger protein 845	934					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.K934K(3)		endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						TAATTCATAAGACAATTCATA	0.368													.|||	271	0.0541134	0.0507	0.0576	5008	,	,		22260	0.0456		0.0924	False		,,,				2504	0.0256					ENST00000458035.1																			3	Substitution - coding silent(3)	p.K934K(3)	kidney(3)	endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						c.(2800-2802)aaG>aaA		zinc finger protein 845																																				SO:0001819	synonymous_variant	91664				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53856730G>A	BC007307	CCDS46170.1	19q13.42	2013-01-08			ENSG00000213799	ENSG00000213799		"""Zinc fingers, C2H2-type"", ""-"""	25112	protein-coding gene	gene with protein product							Standard	NM_138374		Approved		uc010ydv.1	Q96IR2		ENST00000595091.1:c.2802G>A	19.37:g.53856730G>A						ZNF845_ENST00000595091.1_Silent_p.K934K	p.K934K	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN			4	2919	+			934						Silent	SNP	ENST00000595091.1	37	c.2802G>A	CCDS46170.1																																																																																				0.368	ZNF845-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464359.1	XM_039908		7	154	0	0	0	1	0	7	154				
WDR36	134430	broad.mit.edu	37	5	110459563	110459563	+	Missense_Mutation	SNP	A	A	G			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr5:110459563A>G	ENST00000513710.2	+	20	2381	c.2377A>G	c.(2377-2379)Aca>Gca	p.T793A	WDR36_ENST00000506538.2_Missense_Mutation_p.T793A			Q8NI36	WDR36_HUMAN	WD repeat domain 36	793					regulation of axon extension (GO:0030516)|response to stimulus (GO:0050896)|retina homeostasis (GO:0001895)|rRNA processing (GO:0006364)|visual perception (GO:0007601)	nucleus (GO:0005634)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(9)|kidney(4)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111)		TTTCATTCCAACAATTCCTGG	0.353																																						ENST00000506538.2																			0				cervix(1)|endometrium(9)|kidney(4)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(2377-2379)Aca>Gca		WD repeat domain 36							120.0	122.0	122.0					5																	110459563		2202	4300	6502	SO:0001583	missense	134430				response to stimulus|rRNA processing|visual perception	small-subunit processome		g.chr5:110459563A>G	AF385437	CCDS4102.1	5q22.2	2013-01-09			ENSG00000134987	ENSG00000134987		"""WD repeat domain containing"""	30696	protein-coding gene	gene with protein product		609669	"""glaucoma 1, open angle, G"""	GLC1G		15590835, 15677485	Standard	NM_139281		Approved	TA-WDRP, UTP21	uc003kpd.3	Q8NI36	OTTHUMG00000128790	ENST00000513710.2:c.2377A>G	5.37:g.110459563A>G	ENSP00000424628:p.Thr793Ala					WDR36_ENST00000513710.2_Missense_Mutation_p.T793A	p.T793A	NM_139281.2	NP_644810.1	Q8NI36	WDR36_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111)	20	2950	+		all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244)	793					A2RUS4|Q68E02|Q8N1Q2	Missense_Mutation	SNP	ENST00000513710.2	37	c.2377A>G	CCDS4102.1	.	.	.	.	.	.	.	.	.	.	A	23.5	4.419359	0.83559	.	.	ENSG00000134987	ENST00000506538;ENST00000513710	T;T	0.80824	-1.42;-1.42	5.65	5.65	0.86999	Small-subunit processome, Utp21 (1);	0.000000	0.85682	D	0.000000	D	0.89529	0.6741	M	0.76838	2.35	0.80722	D	1	D	0.76494	0.999	D	0.72338	0.977	D	0.90801	0.4694	10	0.87932	D	0	-21.8617	16.1611	0.81712	1.0:0.0:0.0:0.0	.	793	Q8NI36	WDR36_HUMAN	A	793	ENSP00000423067:T793A;ENSP00000424628:T793A	ENSP00000423067:T793A	T	+	1	0	WDR36	110487462	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.965000	0.87945	2.272000	0.75746	0.460000	0.39030	ACA		0.353	WDR36-008	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000373504.3	NM_139281		18	318	0	0	0	1	0	18	318				
CINP	51550	broad.mit.edu	37	14	102815068	102815068	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr14:102815068C>T	ENST00000216756.6	-	5	505	c.465G>A	c.(463-465)atG>atA	p.M155I	CINP_ENST00000560326.1_5'Flank|CINP_ENST00000536961.2_Missense_Mutation_p.M170I|CINP_ENST00000541568.2_Missense_Mutation_p.C112Y	NM_032630.2	NP_116019.1	Q9BW66	CINP_HUMAN	cyclin-dependent kinase 2 interacting protein	155					cell cycle (GO:0007049)|cell division (GO:0051301)|DNA repair (GO:0006281)|DNA replication (GO:0006260)	nucleus (GO:0005634)				large_intestine(2)|lung(2)	4						CCTTCCTGTACATCTCCAAGA	0.527																																						ENST00000216756.6																			0				large_intestine(2)|lung(2)	4						c.(463-465)atG>atA		cyclin-dependent kinase 2 interacting protein							68.0	47.0	54.0					14																	102815068		2203	4300	6503	SO:0001583	missense	51550				cell cycle|cell division|DNA repair|DNA replication	nucleus	protein binding	g.chr14:102815068C>T	AK056112, AF228148, AF228149	CCDS9972.1	14q32.33	2010-02-17			ENSG00000100865	ENSG00000100865			23789	protein-coding gene	gene with protein product		613362				16082200	Standard	NM_032630		Approved	MGC849	uc021sea.1	Q9BW66		ENST00000216756.6:c.465G>A	14.37:g.102815068C>T	ENSP00000216756:p.Met155Ile					CINP_ENST00000541568.2_Missense_Mutation_p.C112Y|CINP_ENST00000536961.2_Missense_Mutation_p.M170I	p.M155I	NM_032630.2	NP_116019.1	Q9BW66	CINP_HUMAN			5	505	-			155					F5H7P3|F5H8A7|Q9NPF9	Missense_Mutation	SNP	ENST00000216756.6	37	c.465G>A	CCDS9972.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.80|17.80	3.477860|3.477860	0.63849|0.63849	.|.	.|.	ENSG00000100865|ENSG00000100865	ENST00000541568|ENST00000216756;ENST00000536961	.|T;T	.|0.51817	.|0.72;0.69	6.07|6.07	5.17|5.17	0.71159|0.71159	.|.	.|0.256618	.|0.46442	.|D	.|0.000283	T|T	0.55909|0.55909	0.1950|0.1950	M|M	0.73598|0.73598	2.24|2.24	0.31559|0.31559	N|N	0.657829|0.657829	.|P	.|0.49559	.|0.925	.|P	.|0.46758	.|0.526	T|T	0.69026|0.69026	-0.5254|-0.5254	6|10	0.52906|0.66056	T|D	0.07|0.02	.|.	14.4832|14.4832	0.67597|0.67597	0.0:0.9291:0.0:0.0709|0.0:0.9291:0.0:0.0709	.|.	.|155	.|Q9BW66	.|CINP_HUMAN	Y|I	112|155;170	.|ENSP00000216756:M155I;ENSP00000442057:M170I	ENSP00000442377:C112Y|ENSP00000216756:M155I	C|M	-|-	2|3	0|0	CINP|CINP	101884821|101884821	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.436000|0.436000	0.31835|0.31835	1.313000|1.313000	0.33585|0.33585	1.549000|1.549000	0.49425|0.49425	0.655000|0.655000	0.94253|0.94253	TGT|ATG		0.527	CINP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415055.1	NM_032630		4	84	0	0	0	1	0	4	84				
TP53	7157	broad.mit.edu	37	17	7579377	7579377	+	Nonsense_Mutation	SNP	G	G	A			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr17:7579377G>A	ENST00000269305.4	-	4	499	c.310C>T	c.(310-312)Cag>Tag	p.Q104*	TP53_ENST00000455263.2_Nonsense_Mutation_p.Q104*|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Nonsense_Mutation_p.Q104*|TP53_ENST00000413465.2_Nonsense_Mutation_p.Q104*|TP53_ENST00000420246.2_Nonsense_Mutation_p.Q104*|TP53_ENST00000445888.2_Nonsense_Mutation_p.Q104*	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	104	Interaction with HIPK1. {ECO:0000250}.|Interaction with WWOX.|Required for interaction with ZNF385A.		Q -> H (in sporadic cancers; somatic mutation).|Q -> L (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.Q104*(12)|p.0?(8)|p.Q100fs*37(3)|p.G59fs*23(3)|p.V73fs*9(1)|p.Y103_Q104>**(1)|p.W91fs*13(1)|p.Y103_G112>C(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.Y103_L111>L(1)|p.Y103fs*15(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	TAGCTGCCCTGGTAGGTTTTC	0.632		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		34	Substitution - Nonsense(12)|Deletion - Frameshift(11)|Whole gene deletion(8)|Complex - deletion inframe(2)|Complex - compound substitution(1)	p.Q104*(12)|p.0?(8)|p.Q100fs*37(3)|p.G59fs*23(3)|p.V73fs*9(1)|p.Y103_Q104>**(1)|p.W91fs*13(1)|p.Y103_G112>C(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.Y103_L111>L(1)|p.Y103fs*15(1)	lung(6)|ovary(4)|bone(4)|upper_aerodigestive_tract(3)|stomach(3)|biliary_tract(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|urinary_tract(1)|skin(1)|liver(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.(310-312)Cag>Tag	Other conserved DNA damage response genes	tumor protein p53							54.0	54.0	54.0					17																	7579377		2203	4300	6503	SO:0001587	stop_gained	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7579377G>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.310C>T	17.37:g.7579377G>A	ENSP00000269305:p.Gln104*	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000359597.4_Nonsense_Mutation_p.Q104*|TP53_ENST00000445888.2_Nonsense_Mutation_p.Q104*|TP53_ENST00000413465.2_Nonsense_Mutation_p.Q104*|TP53_ENST00000455263.2_Nonsense_Mutation_p.Q104*|TP53_ENST00000269305.4_Nonsense_Mutation_p.Q104*	p.Q104*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	4	442	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	104		Q -> H (in sporadic cancers; somatic mutation).|Q -> L (in a sporadic cancer; somatic mutation).	Interaction with HIPK1 (By similarity).|Interaction with WWOX.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Nonsense_Mutation	SNP	ENST00000269305.4	37	c.310C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	17.73	3.460479	0.63401	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000508793;ENST00000503591	.	.	.	4.75	4.75	0.60458	.	0.378699	0.29424	N	0.012186	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	2.2505	11.3383	0.49518	0.0:0.1837:0.8163:0.0	.	.	.	.	X	104	.	ENSP00000269305:Q104X	Q	-	1	0	TP53	7520102	1.000000	0.71417	0.643000	0.29450	0.384000	0.30261	1.618000	0.36954	2.630000	0.89119	0.655000	0.94253	CAG		0.632	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		23	307	0	0	0	1	0	23	307				
LIPC	3990	broad.mit.edu	37	15	58830668	58830668	+	Silent	SNP	C	C	T	rs146362585		TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr15:58830668C>T	ENST00000356113.6	+	4	840	c.225C>T	c.(223-225)tgC>tgT	p.C75C	LIPC_ENST00000414170.3_Silent_p.C75C|LIPC_ENST00000433326.2_Silent_p.C75C|LIPC_ENST00000299022.5_Silent_p.C75C			P11150	LIPC_HUMAN	lipase, hepatic	75					cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|chylomicron remnant clearance (GO:0034382)|fatty acid biosynthetic process (GO:0006633)|high-density lipoprotein particle remodeling (GO:0034375)|intermediate-density lipoprotein particle remodeling (GO:0034373)|low-density lipoprotein particle remodeling (GO:0034374)|phosphatidylcholine catabolic process (GO:0034638)|reverse cholesterol transport (GO:0043691)|triglyceride catabolic process (GO:0019433)|triglyceride homeostasis (GO:0070328)|very-low-density lipoprotein particle remodeling (GO:0034372)	extracellular space (GO:0005615)|high-density lipoprotein particle (GO:0034364)	apolipoprotein binding (GO:0034185)|heparin binding (GO:0008201)|low-density lipoprotein particle binding (GO:0030169)|phospholipase activity (GO:0004620)|triglyceride lipase activity (GO:0004806)	p.C75C(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Colorectal(260;0.215)		GBM - Glioblastoma multiforme(80;0.00213)|all cancers(107;0.00548)		TACAGGAGTGCGGCTTCAACT	0.473													C|||	1	0.000199681	0.0	0.0	5008	,	,		18726	0.0		0.001	False		,,,				2504	0.0					ENST00000414170.3																			1	Substitution - coding silent(1)	p.C75C(1)	lung(1)	breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(223-225)tgC>tgT		lipase, hepatic							160.0	148.0	152.0					15																	58830668		2192	4292	6484	SO:0001819	synonymous_variant	3990				cholesterol homeostasis|chylomicron remnant clearance|fatty acid biosynthetic process|high-density lipoprotein particle remodeling|intermediate-density lipoprotein particle remodeling|low-density lipoprotein particle remodeling|phosphatidylcholine catabolic process|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle	apolipoprotein binding|heparin binding|low-density lipoprotein particle binding|phospholipase activity|triglyceride lipase activity	g.chr15:58830668C>T		CCDS10166.1	15q21-q23	2012-10-02			ENSG00000166035	ENSG00000166035	3.1.1.3		6619	protein-coding gene	gene with protein product		151670					Standard	NM_000236		Approved	HL, HTGL	uc002afa.2	P11150	OTTHUMG00000132632	ENST00000356113.6:c.225C>T	15.37:g.58830668C>T						LIPC_ENST00000299022.5_Silent_p.C75C|LIPC_ENST00000356113.6_Silent_p.C75C|LIPC_ENST00000433326.2_Silent_p.C75C	p.C75C			P11150	LIPC_HUMAN		GBM - Glioblastoma multiforme(80;0.00213)|all cancers(107;0.00548)	3	512	+		Colorectal(260;0.215)	75					A2RUB4|A8K9B6|O43571|P78529|Q99465	Silent	SNP	ENST00000356113.6	37	c.225C>T	CCDS10166.1																																																																																				0.473	LIPC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416209.1			7	789	0	0	0	1	0	7	789				
ZBTB40	9923	broad.mit.edu	37	1	22838561	22838563	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr1:22838561_22838563delAAG	ENST00000375647.4	+	11	2602_2604	c.2395_2397delAAG	c.(2395-2397)aagdel	p.K803del	ZBTB40_ENST00000374651.4_In_Frame_Del_p.K691del|ZBTB40_ENST00000404138.1_In_Frame_Del_p.K803del	NM_014870.3	NP_055685.3	Q9NUA8	ZBT40_HUMAN	zinc finger and BTB domain containing 40	803					bone mineralization (GO:0030282)|cellular response to DNA damage stimulus (GO:0006974)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		CGATGCCCCCAAGAAGAAGAAGA	0.517																																						ENST00000404138.1																			0				endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						c.(2395-2397)del		zinc finger and BTB domain containing 40																																				SO:0001651	inframe_deletion	9923				bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:22838561_22838563delAAG	AB007947	CCDS224.1	1p36	2013-01-08			ENSG00000184677	ENSG00000184677		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	29045	protein-coding gene	gene with protein product		612106					Standard	NM_014870		Approved	KIAA0478, ZNF923	uc001bfu.2	Q9NUA8	OTTHUMG00000002897	ENST00000375647.4:c.2395_2397delAAG	1.37:g.22838570_22838572delAAG	ENSP00000364798:p.Lys803del					ZBTB40_ENST00000374651.4_In_Frame_Del_p.K691del|ZBTB40_ENST00000375647.4_In_Frame_Del_p.K803del	p.K803del	NM_001083621.1	NP_001077090.1	Q9NUA8	ZBT40_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)	12	2906_2908	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	803					O75066|Q5TFU5|Q8N1R1	In_Frame_Del	DEL	ENST00000375647.4	37	c.2395_2397delAAG	CCDS224.1																																																																																				0.517	ZBTB40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008094.1	NM_014870		9	285						9	285	---	---	---	---
SPATA1	100505741	broad.mit.edu	37	1	84988200	84988201	+	RNA	INS	-	-	T			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr1:84988200_84988201insT	ENST00000370638.2	+	0	526							Q5VX52	SPAT1_HUMAN	spermatogenesis associated 1											breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(4)|prostate(1)	10				Epithelial(280;4.36e-10)|all cancers(265;7.1e-09)|BRCA - Breast invasive adenocarcinoma(282;8.45e-09)|OV - Ovarian serous cystadenocarcinoma(397;0.00286)|KIRC - Kidney renal clear cell carcinoma(1967;0.0111)		GGTAAGTTTTCTTTTTTTTTCT	0.327																																						ENST00000370638.2																			0				breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(4)|prostate(1)	10								spermatogenesis associated 1				11,4253		0,11,2121						1.0	0.1			48	15,8237		0,15,4111	no	intron	SPATA1	XM_003118960.2		0,26,6232	A1A1,A1R,RR		0.1818,0.258,0.2077				26,12490						100505741							g.chr1:84988200_84988201insT	AF306347		1p22.3	2011-05-24			ENSG00000122432	ENSG00000122432			14682	protein-coding gene	gene with protein product							Standard	XM_005275883		Approved	SP-2	uc021opb.1	Q5VX52	OTTHUMG00000009924		1.37:g.84988209_84988209dupT													Epithelial(280;4.36e-10)|all cancers(265;7.1e-09)|BRCA - Breast invasive adenocarcinoma(282;8.45e-09)|OV - Ovarian serous cystadenocarcinoma(397;0.00286)|KIRC - Kidney renal clear cell carcinoma(1967;0.0111)	0	526	+								A0PJU9|Q0VDJ9|Q0VDK0|Q6P386|Q9HAR4	RNA	INS	ENST00000370638.2	37																																																																																						0.327	SPATA1-007	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000314701.1	NM_022354		7	217						7	217	---	---	---	---
CDC14A	8556	broad.mit.edu	37	1	100889837	100889837	+	Frame_Shift_Del	DEL	C	C	-			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr1:100889837delC	ENST00000336454.3	+	5	724	c.369delC	c.(367-369)aacfs	p.N123fs	CDC14A_ENST00000370125.2_Frame_Shift_Del_p.N123fs|CDC14A_ENST00000370124.3_Frame_Shift_Del_p.N123fs|CDC14A_ENST00000469387.1_3'UTR|CDC14A_ENST00000542213.1_Frame_Shift_Del_p.N65fs|CDC14A_ENST00000361544.6_Frame_Shift_Del_p.N123fs|CDC14A_ENST00000544534.1_Frame_Shift_Del_p.N123fs	NM_003672.3	NP_003663.2	Q9UNH5	CC14A_HUMAN	cell division cycle 14A	123	A.				cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			breast(1)|endometrium(5)|kidney(6)|large_intestine(6)|lung(10)|skin(2)|urinary_tract(1)	31		all_epithelial(167;3.71e-06)|all_lung(203;0.00097)|Lung NSC(277;0.001)		Epithelial(280;0.0676)|all cancers(265;0.127)|COAD - Colon adenocarcinoma(174;0.201)|Lung(183;0.227)|Colorectal(144;0.241)		CTGGCTCAAACCCCCCCTATC	0.403																																						ENST00000370125.2																			0				breast(1)|endometrium(5)|kidney(6)|large_intestine(6)|lung(10)|skin(2)|urinary_tract(1)	31						c.(367-369)aafs		cell division cycle 14A							95.0	99.0	98.0					1																	100889837		2203	4300	6503	SO:0001589	frameshift_variant	8556				cell cycle|cell division|cell proliferation	centrosome|nucleus|spindle	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr1:100889837delC	AF000367	CCDS769.1, CCDS770.1, CCDS771.1	1p21	2013-01-17	2013-01-17		ENSG00000079335	ENSG00000079335		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : CDC14s"""	1718	protein-coding gene	gene with protein product		603504	"""CDC10 (cell division cycle 10, S. cerevisiae, homolog)"", ""CDC14 cell division cycle 14 homolog A (S. cerevisiae)"""			9367992, 10409437	Standard	NM_033312		Approved	Cdc14A1, Cdc14A2, cdc14	uc001dtf.2	Q9UNH5	OTTHUMG00000010987	ENST00000336454.3:c.369delC	1.37:g.100889837delC	ENSP00000336739:p.Asn123fs					CDC14A_ENST00000544534.1_Frame_Shift_Del_p.N123fs|CDC14A_ENST00000361544.6_Frame_Shift_Del_p.N123fs|CDC14A_ENST00000542213.1_Frame_Shift_Del_p.N65fs|CDC14A_ENST00000336454.3_Frame_Shift_Del_p.N123fs|CDC14A_ENST00000370124.3_Frame_Shift_Del_p.N123fs|CDC14A_ENST00000469387.1_3'UTR	p.N123fs			Q9UNH5	CC14A_HUMAN		Epithelial(280;0.0676)|all cancers(265;0.127)|COAD - Colon adenocarcinoma(174;0.201)|Lung(183;0.227)|Colorectal(144;0.241)	5	857	+		all_epithelial(167;3.71e-06)|all_lung(203;0.00097)|Lung NSC(277;0.001)	123			A.		A6MA65|B1AQ14|B1AQ15|O43171|O60727|O60728|Q52LH9|Q8IXX0	Frame_Shift_Del	DEL	ENST00000336454.3	37	c.369delC	CCDS769.1																																																																																				0.403	CDC14A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000030220.1	NM_033312		7	483						7	483	---	---	---	---
SRGAP2-AS1	100873165	broad.mit.edu	37	1	121137791	121137793	+	lincRNA	DEL	CCA	CCA	-	rs28552466|rs61625886|rs374710813	byFrequency	TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr1:121137791_121137793delCCA	ENST00000417218.1	+	0	0				RP11-343N15.1_ENST00000437515.1_lincRNA																							ATTTCGCCCTCCACCGCCGCCGC	0.631																																						ENST00000437515.1																			0																																																			0							g.chr1:121137791_121137793delCCA																													1.37:g.121137791_121137793delCCA														0	329	-									RNA	DEL	ENST00000417218.1	37																																																																																						0.631	AL592494.5-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000036739.1			10	43						10	43	---	---	---	---
LCE1A	353131	broad.mit.edu	37	1	152799998	152799998	+	Frame_Shift_Del	DEL	C	C	-			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr1:152799998delC	ENST00000335123.2	+	1	50	c.50delC	c.(49-51)accfs	p.T17fs		NM_178348.2	NP_848125.1	Q5T7P2	LCE1A_HUMAN	late cornified envelope 1A	17	Cys-rich.				keratinization (GO:0031424)					endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)|skin(1)	8	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			cccaagtgcacccccaagtgc	0.622																																						ENST00000335123.2																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)|skin(1)	8						c.(49-51)acfs		late cornified envelope 1A							50.0	57.0	55.0					1																	152799998		2203	4300	6503	SO:0001589	frameshift_variant	353131				keratinization			g.chr1:152799998delC		CCDS1028.1	1q21.3	2011-01-28			ENSG00000186844	ENSG00000186844		"""Late cornified envelopes"""	29459	protein-coding gene	gene with protein product		612603				11698679	Standard	NM_178348		Approved	LEP1	uc010pdw.2	Q5T7P2	OTTHUMG00000012447	ENST00000335123.2:c.50delC	1.37:g.152799998delC	ENSP00000334869:p.Thr17fs						p.T17fs	NM_178348.2	NP_848125.1	Q5T7P2	LCE1A_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		1	50	+	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		17			Cys-rich.			Frame_Shift_Del	DEL	ENST00000335123.2	37	c.50delC	CCDS1028.1																																																																																				0.622	LCE1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034660.2	NM_178348		8	301						8	301	---	---	---	---
NOS1AP	9722	broad.mit.edu	37	1	162326888	162326890	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr1:162326888_162326890delCAG	ENST00000361897.5	+	8	1303_1305	c.901_903delCAG	c.(901-903)cagdel	p.Q306del	NOS1AP_ENST00000530878.1_In_Frame_Del_p.Q301del	NM_001164757.1|NM_014697.2	NP_001158229.1|NP_055512.1	O75052	CAPON_HUMAN	nitric oxide synthase 1 (neuronal) adaptor protein	306	Poly-Gln.				regulation of apoptotic process (GO:0042981)|regulation of nitric oxide biosynthetic process (GO:0045428)|regulation of nitric-oxide synthase activity (GO:0050999)		nitric-oxide synthase binding (GO:0050998)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	32	all_hematologic(112;0.203)		BRCA - Breast invasive adenocarcinoma(70;0.0537)			gcagctcctccagcagcAGCAGC	0.611																																						ENST00000361897.5																			0				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	32						c.(901-903)del		nitric oxide synthase 1 (neuronal) adaptor protein																																				SO:0001651	inframe_deletion	9722				regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity		nitric-oxide synthase binding|PDZ domain binding	g.chr1:162326888_162326890delCAG	AB007933	CCDS1237.1, CCDS44267.1, CCDS53421.1	1q23.3	2010-08-20			ENSG00000198929	ENSG00000198929			16859	protein-coding gene	gene with protein product	"""C-terminal PDZ domain ligand of neuronal nitric oxide synthase"""	605551				9455484, 9459447	Standard	NM_001126060		Approved	KIAA0464, CAPON	uc001gbv.2	O75052	OTTHUMG00000024049	ENST00000361897.5:c.901_903delCAG	1.37:g.162326897_162326899delCAG	ENSP00000355133:p.Gln306del					NOS1AP_ENST00000530878.1_In_Frame_Del_p.Q301del	p.Q306del	NM_001164757.1|NM_014697.2	NP_001158229.1|NP_055512.1	O75052	CAPON_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0537)		8	1303_1305	+	all_hematologic(112;0.203)		306			Poly-Gln.		B7ZLF5|O43564|Q3T551|Q5VU95	In_Frame_Del	DEL	ENST00000361897.5	37	c.901_903delCAG	CCDS1237.1																																																																																				0.611	NOS1AP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060555.2	NM_014697		8	248						8	248	---	---	---	---
CACNA1E	777	broad.mit.edu	37	1	181680102	181680103	+	Frame_Shift_Del	DEL	AG	AG	-	rs147596634		TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr1:181680102_181680103delAG	ENST00000367573.2	+	8	1068_1069	c.1068_1069delAG	c.(1066-1071)aaagagfs	p.E357fs	CACNA1E_ENST00000367570.1_Frame_Shift_Del_p.E357fs|CACNA1E_ENST00000357570.5_Frame_Shift_Del_p.E308fs|CACNA1E_ENST00000367567.4_5'UTR|CACNA1E_ENST00000358338.5_Frame_Shift_Del_p.E308fs|CACNA1E_ENST00000526775.1_Frame_Shift_Del_p.E357fs|CACNA1E_ENST00000360108.3_Frame_Shift_Del_p.E357fs	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	357					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						AATTTGCCAAAGAGAGAGAGAG	0.51																																						ENST00000526775.1																			0				NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						c.(1066-1071)aaagfs		calcium channel, voltage-dependent, R type, alpha 1E subunit			,,	161,3503		41,79,1712					,,	5.3	1.0		dbSNP_134	61	297,7585		52,193,3696	yes	frameshift,frameshift,frameshift	CACNA1E	NM_001205294.1,NM_001205293.1,NM_000721.3	,,	93,272,5408	A1A1,A1R,RR		3.7681,4.3941,3.9667	,,	,,		458,11088				SO:0001589	frameshift_variant	777				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr1:181680102_181680103delAG	AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.1068_1069delAG	1.37:g.181680112_181680113delAG	ENSP00000356545:p.Glu357fs					CACNA1E_ENST00000360108.3_Frame_Shift_Del_p.KE356fs|CACNA1E_ENST00000367567.4_5'UTR|CACNA1E_ENST00000367573.2_Frame_Shift_Del_p.KE356fs|CACNA1E_ENST00000367570.1_Frame_Shift_Del_p.KE356fs|CACNA1E_ENST00000357570.5_Frame_Shift_Del_p.KE307fs|CACNA1E_ENST00000358338.5_Frame_Shift_Del_p.KE307fs	p.KE356fs	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN			8	1233_1234	+			356					B1AM12|B1AM13|B1AM14|Q14580|Q14581	Frame_Shift_Del	DEL	ENST00000367573.2	37	c.1068_1069delAG	CCDS55664.1																																																																																				0.510	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721		13	369						13	369	---	---	---	---
GPR37L1	9283	broad.mit.edu	37	1	202097525	202097527	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr1:202097525_202097527delCTG	ENST00000367282.5	+	2	1393_1395	c.1287_1289delCTG	c.(1285-1290)gactgc>gac	p.C436del		NM_004767.3	NP_004758.3	O60883	ETBR2_HUMAN	G protein-coupled receptor 37 like 1	436	Cys-rich.				negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of smoothened signaling pathway (GO:0045879)|positive regulation of cerebellar granule cell precursor proliferation (GO:0021940)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)	18						CCTTCCTGGActgctgctgctgc	0.626																																						ENST00000367282.4																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)	18						c.(1285-1290)gac>ga		G protein-coupled receptor 37 like 1				2,128,4136		0,0,2,9,110,2012						3.1	1.0			46	5,240,8007		0,0,5,10,220,3891	no	codingComplex	GPR37L1	NM_004767.3		0,0,7,19,330,5903	A1A1,A1A2,A1R,A2A2,A2R,RR		2.969,3.0474,2.9957				7,368,12143				SO:0001651	inframe_deletion	9283					integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding	g.chr1:202097525_202097527delCTG	AJ310210	CCDS1420.1	1q32	2012-08-21	2006-02-15		ENSG00000170075	ENSG00000170075		"""GPCR / Class A : Orphans"""	14923	protein-coding gene	gene with protein product						9539149	Standard	NM_004767		Approved	ETBR-LP-2	uc001gxj.3	O60883	OTTHUMG00000035924	ENST00000367282.5:c.1287_1289delCTG	1.37:g.202097534_202097536delCTG	ENSP00000356251:p.Cys436del						p.DC429del	NM_004767.3	NP_004758.3	O60883	ETBR2_HUMAN			2	1393_1395	+			429			Cys-rich.		B2R7M9|Q5SXP7|Q86VP7	In_Frame_Del	DEL	ENST00000367282.5	37	c.1287_1289delCTG	CCDS1420.1																																																																																				0.626	GPR37L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087496.2	NM_004767		9	112						9	112	---	---	---	---
LOXL3	84695	broad.mit.edu	37	2	74763923	74763924	+	Frame_Shift_Ins	INS	-	-	C			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr2:74763923_74763924insC	ENST00000264094.3	-	5	895_896	c.824_825insG	c.(823-825)ggcfs	p.G275fs	LOXL3_ENST00000484369.1_5'Flank|LOXL3_ENST00000409249.1_Frame_Shift_Ins_p.G275fs|LOXL3_ENST00000393937.2_Intron|LOXL3_ENST00000409549.1_Frame_Shift_Ins_p.G275fs|LOXL3_ENST00000409986.1_Intron	NM_032603.2	NP_115992.1	P58215	LOXL3_HUMAN	lysyl oxidase-like 3	275	SRCR 2. {ECO:0000255|PROSITE- ProRule:PRU00196}.				epithelial to mesenchymal transition (GO:0001837)|negative regulation of transcription, DNA-templated (GO:0045892)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)|nucleus (GO:0005634)	copper ion binding (GO:0005507)|protein-lysine 6-oxidase activity (GO:0004720)|scavenger receptor activity (GO:0005044)	p.A277fs*57(1)		endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30						CCACTGCAGGGCCCCCCCCAGG	0.649																																						ENST00000264094.3																			1	Insertion - Frameshift(1)	p.A277fs*57(1)	large_intestine(1)	endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30						c.(823-825)gccfs		lysyl oxidase-like 3																																				SO:0001589	frameshift_variant	84695					extracellular space|membrane	copper ion binding|protein-lysine 6-oxidase activity|scavenger receptor activity	g.chr2:74763923_74763924insC	AF282619	CCDS1953.1, CCDS74527.1	2p13	2008-05-23			ENSG00000115318	ENSG00000115318			13869	protein-coding gene	gene with protein product		607163				11386757	Standard	NM_032603		Approved		uc002smp.1	P58215	OTTHUMG00000129953	ENST00000264094.3:c.825dupG	2.37:g.74763931_74763931dupC	ENSP00000264094:p.Gly275fs					LOXL3_ENST00000409249.1_Frame_Shift_Ins_p.A275fs|LOXL3_ENST00000409549.1_Frame_Shift_Ins_p.A275fs|LOXL3_ENST00000409986.1_Intron|LOXL3_ENST00000393937.2_Intron	p.A275fs	NM_032603.2	NP_115992.1	P58215	LOXL3_HUMAN			5	895_896	-			275			SRCR 2.		D6W5J1|Q2EHP2|Q6IPL7|Q96RS1	Frame_Shift_Ins	INS	ENST00000264094.3	37	c.824_825insG	CCDS1953.1																																																																																				0.649	LOXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252215.1	NM_032603		7	404						7	404	---	---	---	---
MED15P9	285103	broad.mit.edu	37	2	130893081	130893081	+	RNA	DEL	A	A	-			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr2:130893081delA	ENST00000427638.1	+	0	542					NR_033903.1				mediator complex subunit 15 pseudogene 9																		actccatctcaaaaaaaaaaa	0.562																																						ENST00000427638.1																			0																																																			0							g.chr2:130893081delA	BC036597		2q21.1	2014-05-06	2013-08-13	2013-08-13	ENSG00000223760	ENSG00000223760			44130	pseudogene	pseudogene			"""CCDC74B antisense RNA 1 (non-protein coding)"", ""CCDC74B antisense RNA 1"""	CCDC74B-AS1			Standard	NR_033903		Approved		uc021voa.1				2.37:g.130893081delA								NR_033903.1						0	542	+									RNA	DEL	ENST00000427638.1	37																																																																																						0.562	MED15P9-002	KNOWN	basic|exp_conf	processed_transcript	pseudogene	OTTHUMT00000470767.1	NR_033903		3	5						3	5	---	---	---	---
ALS2CR11	151254	broad.mit.edu	37	2	202352352	202352352	+	Frame_Shift_Del	DEL	T	T	-			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr2:202352352delT	ENST00000286195.3	-	15	1899	c.1855delA	c.(1855-1857)attfs	p.I619fs	ALS2CR11_ENST00000439802.1_3'UTR|ALS2CR11_ENST00000482942.1_5'Flank|ALS2CR11_ENST00000439140.1_Frame_Shift_Del_p.I1816fs	NM_152525.5	NP_689738.3	Q53TS8	AL2SA_HUMAN	amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11	619										NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(11)|ovary(1)|skin(5)|urinary_tract(3)	33						CCTCTTTTAATTTTTTTTGGC	0.323																																						ENST00000439140.1																			0				NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(11)|ovary(1)|skin(5)|urinary_tract(3)	33						c.(5446-5448)ttfs		amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11							97.0	96.0	96.0					2																	202352352		2203	4300	6503	SO:0001589	frameshift_variant	151254							g.chr2:202352352delT	AB053313	CCDS2349.1, CCDS54430.1, CCDS54428.1, CCDS54429.1	2q33	2007-12-07			ENSG00000155754	ENSG00000155754			14438	protein-coding gene	gene with protein product						11586298	Standard	NM_152525		Approved	FLJ25351	uc002uyf.3	Q53TS8	OTTHUMG00000132830	ENST00000286195.3:c.1855delA	2.37:g.202352352delT	ENSP00000286195:p.Ile619fs					ALS2CR11_ENST00000439802.1_3'UTR|ALS2CR11_ENST00000286195.3_Frame_Shift_Del_p.I619fs	p.I1816fs	NM_001168221.1	NP_001161693.1	Q53TS8	AL2SA_HUMAN			16	5490	-			619					C9IZH7|E9PGG4|Q8NCN6|Q96LN4	Frame_Shift_Del	DEL	ENST00000286195.3	37	c.5446delA	CCDS2349.1																																																																																				0.323	ALS2CR11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256296.2	NM_152525		8	357						8	357	---	---	---	---
ERC2	26059	broad.mit.edu	37	3	55733470	55733472	+	In_Frame_Del	DEL	TGG	TGG	-			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr3:55733470_55733472delTGG	ENST00000288221.6	-	16	3036_3038	c.2781_2783delCCA	c.(2779-2784)caccat>cat	p.927_928HH>H		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	927	Poly-His.					cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|growth cone (GO:0030426)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)				breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		gtggtggtgatggtggtggtggt	0.502																																						ENST00000288221.6																			0				breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31						c.(2779-2784)cat>ca		ELKS/RAB6-interacting/CAST family member 2																																				SO:0001651	inframe_deletion	26059					cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding	g.chr3:55733470_55733472delTGG	AB002376	CCDS46851.1	3p14.3	2006-08-14			ENSG00000187672	ENSG00000187672			31922	protein-coding gene	gene with protein product							Standard	NM_015576		Approved	CAST, CAST1, KIAA0378, SPBC110, Spc110, ELKSL	uc003dhr.1	O15083	OTTHUMG00000158390	ENST00000288221.6:c.2781_2783delCCA	3.37:g.55733479_55733481delTGG	ENSP00000288221:p.His932del						p.HH931del	NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)	16	3036_3038	-			931			Poly-His.		Q2T9F6|Q86TK4	In_Frame_Del	DEL	ENST00000288221.6	37	c.2781_2783delCCA	CCDS46851.1																																																																																				0.502	ERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350884.2	NM_015576		12	994						12	994	---	---	---	---
FILIP1L	11259	broad.mit.edu	37	3	99568272	99568273	+	Frame_Shift_Ins	INS	-	-	T			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr3:99568272_99568273insT	ENST00000354552.3	-	5	2717_2718	c.2247_2248insA	c.(2245-2250)aaactafs	p.L750fs	FILIP1L_ENST00000471562.1_Frame_Shift_Ins_p.L510fs|CMSS1_ENST00000421999.2_Intron|FILIP1L_ENST00000331335.5_Frame_Shift_Ins_p.L750fs|CMSS1_ENST00000496116.1_Intron|FILIP1L_ENST00000487087.1_Frame_Shift_Ins_p.L326fs|FILIP1L_ENST00000383694.2_Frame_Shift_Ins_p.L510fs|FILIP1L_ENST00000476723.1_Intron	NM_182909.2	NP_878913.2	Q4L180	FIL1L_HUMAN	filamin A interacting protein 1-like	750						cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	35						TGTTGATTTAGTTTTTTTTGCA	0.406																																						ENST00000331335.5																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	35						c.(2245-2250)aataaafs		filamin A interacting protein 1-like																																				SO:0001589	frameshift_variant	11259					cytoplasm|membrane|myosin complex|nucleus		g.chr3:99568272_99568273insT		CCDS43117.1, CCDS43118.1, CCDS43119.1, CCDS63700.1, CCDS74969.1	3q12.1	2011-10-21			ENSG00000168386	ENSG00000168386			24589	protein-coding gene	gene with protein product	"""downregulated in ovarian cancer 1"", ""GPBP-interacting protein of 130 kDa"""	612993				8314147, 15935955, 21832087	Standard	NM_001282793		Approved	DOC-1, GIP130	uc003dtm.3	Q4L180	OTTHUMG00000159055	ENST00000354552.3:c.2248dupA	3.37:g.99568280_99568280dupT	ENSP00000346560:p.Leu750fs					CMSS1_ENST00000421999.2_Intron|FILIP1L_ENST00000354552.3_Frame_Shift_Ins_p.NK749fs|FILIP1L_ENST00000487087.1_Frame_Shift_Ins_p.NK325fs|FILIP1L_ENST00000476723.1_Intron|CMSS1_ENST00000496116.1_Intron|FILIP1L_ENST00000383694.2_Frame_Shift_Ins_p.NK509fs|FILIP1L_ENST00000471562.1_Frame_Shift_Ins_p.NK509fs	p.NK749fs	NM_001042459.1	NP_001035924.1	Q4L180	FIL1L_HUMAN			5	2717_2718	-			749					B2CNV7|B2CNV8|Q13597|Q2YDY5|Q6KFX5|Q6KFX6|Q6KFX7|Q8IUM3|Q8N6Z0	Frame_Shift_Ins	INS	ENST00000354552.3	37	c.2247_2248insA	CCDS43117.1																																																																																				0.406	FILIP1L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000353069.1	NM_014890		9	543						9	543	---	---	---	---
PARP14	54625	broad.mit.edu	37	3	122433231	122433232	+	Frame_Shift_Ins	INS	-	-	A			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr3:122433231_122433232insA	ENST00000474629.2	+	12	4221_4222	c.3955_3956insA	c.(3955-3957)gaafs	p.E1319fs		NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	1319	Macro 3. {ECO:0000255|PROSITE- ProRule:PRU00490}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		GCAGGAGTGTGAAAAAAAAAAT	0.421																																						ENST00000474629.2																			0				NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50						c.(3955-3957)aaafs		poly (ADP-ribose) polymerase family, member 14																																				SO:0001589	frameshift_variant	54625				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity	g.chr3:122433231_122433232insA	AB033094	CCDS46894.1	3q21	2010-02-16			ENSG00000173193	ENSG00000173193		"""Poly (ADP-ribose) polymerases"""	29232	protein-coding gene	gene with protein product		610028				15273990	Standard	NM_017554		Approved	KIAA1268, pART8	uc003efq.4	Q460N5	OTTHUMG00000159552	ENST00000474629.2:c.3965dupA	3.37:g.122433241_122433241dupA	ENSP00000418194:p.Glu1319fs						p.K1319fs	NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN		GBM - Glioblastoma multiforme(114;0.0531)	12	4221_4222	+			1319			Macro 3.		B4E2H0|Q460N4|Q8J027|Q9H9X9|Q9NV60|Q9ULF2	Frame_Shift_Ins	INS	ENST00000474629.2	37	c.3955_3956insA	CCDS46894.1																																																																																				0.421	PARP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356173.2	NM_017554		7	205						7	205	---	---	---	---
LIMCH1	22998	broad.mit.edu	37	4	41648508	41648509	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr4:41648508_41648509delGA	ENST00000313860.7	+	12	1317_1318	c.1263_1264delGA	c.(1261-1266)cggagafs	p.RR421fs	LIMCH1_ENST00000512820.1_Frame_Shift_Del_p.RR409fs|LIMCH1_ENST00000512946.1_Frame_Shift_Del_p.RR421fs|LIMCH1_ENST00000503057.1_Frame_Shift_Del_p.RR806fs|LIMCH1_ENST00000511496.1_Frame_Shift_Del_p.RR262fs|LIMCH1_ENST00000509277.1_Frame_Shift_Del_p.RR255fs|LIMCH1_ENST00000513024.1_Frame_Shift_Del_p.RR250fs|LIMCH1_ENST00000396595.3_Frame_Shift_Del_p.RR267fs|LIMCH1_ENST00000512632.1_Frame_Shift_Del_p.RR421fs|LIMCH1_ENST00000508501.1_Frame_Shift_Del_p.RR421fs|LIMCH1_ENST00000381753.4_Frame_Shift_Del_p.RR255fs|LIMCH1_ENST00000514096.1_Frame_Shift_Del_p.RR262fs	NM_014988.2	NP_055803.2	Q9UPQ0	LIMC1_HUMAN	LIM and calponin homology domains 1	421					actomyosin structure organization (GO:0031032)		zinc ion binding (GO:0008270)	p.E810fs*3(1)|p.E425fs*3(1)		central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						TTAGAGAGCGGAGAGAGAGAGA	0.465																																						ENST00000313860.7																			2	Deletion - Frameshift(2)	p.E810fs*3(1)|p.E425fs*3(1)	ovary(2)	central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						c.(1261-1266)cggafs		LIM and calponin homology domains 1																																				SO:0001589	frameshift_variant	22998				actomyosin structure organization		actin binding|zinc ion binding	g.chr4:41648508_41648509delGA	AB029025	CCDS33977.1, CCDS47047.1, CCDS54763.1, CCDS54764.1, CCDS54765.1, CCDS75119.1, CCDS75121.1	4p13	2007-06-14		2008-01-09	ENSG00000064042	ENSG00000064042			29191	protein-coding gene	gene with protein product						10470851	Standard	XM_005248057		Approved	DKFZP686A01247, LIMCH1A, LMO7B	uc003gvz.4	Q9UPQ0	OTTHUMG00000160575	ENST00000313860.7:c.1263_1264delGA	4.37:g.41648518_41648519delGA	ENSP00000316891:p.Arg421fs					LIMCH1_ENST00000512820.1_Frame_Shift_Del_p.RR409fs|LIMCH1_ENST00000511496.1_Frame_Shift_Del_p.RR262fs|LIMCH1_ENST00000514096.1_Frame_Shift_Del_p.RR262fs|LIMCH1_ENST00000503057.1_Frame_Shift_Del_p.RR806fs|LIMCH1_ENST00000396595.3_Frame_Shift_Del_p.RR267fs|LIMCH1_ENST00000381753.4_Frame_Shift_Del_p.RR255fs|LIMCH1_ENST00000509277.1_Frame_Shift_Del_p.RR255fs|LIMCH1_ENST00000512632.1_Frame_Shift_Del_p.RR421fs|LIMCH1_ENST00000512946.1_Frame_Shift_Del_p.RR421fs|LIMCH1_ENST00000513024.1_Frame_Shift_Del_p.RR250fs|LIMCH1_ENST00000508501.1_Frame_Shift_Del_p.RR421fs	p.RR421fs	NM_014988.2	NP_055803.2	Q9UPQ0	LIMC1_HUMAN			12	1317_1318	+			421					A8MXC3|E9PHM7|Q503B5|Q5CZB1|Q5CZB6|Q5H9S8|Q68E07|Q6PJ44|Q7Z3G5|Q8N3S9|Q8N6M2	Frame_Shift_Del	DEL	ENST00000313860.7	37	c.1263_1264delGA	CCDS33977.1																																																																																				0.465	LIMCH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000361249.2	NM_014988		7	535						7	535	---	---	---	---
GABRG1	2565	broad.mit.edu	37	4	46060358	46060358	+	Frame_Shift_Del	DEL	A	A	-			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr4:46060358delA	ENST00000295452.4	-	7	959	c.792delT	c.(790-792)tttfs	p.F264fs		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	264					gamma-aminobutyric acid signaling pathway (GO:0007214)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.F264fs*3(1)		breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	TGCTCAGGTCAAAAAAAATTG	0.294																																						ENST00000295452.4																			1	Deletion - Frameshift(1)	p.F264fs*3(1)	large_intestine(1)	breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						c.(790-792)ttfs		gamma-aminobutyric acid (GABA) A receptor, gamma 1							94.0	97.0	96.0					4																	46060358		2203	4300	6503	SO:0001589	frameshift_variant	2565				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	g.chr4:46060358delA	BC031087	CCDS3470.1	4p12	2012-06-22			ENSG00000163285	ENSG00000163285		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4086	protein-coding gene	gene with protein product	"""GABA(A) receptor, gamma"""	137166				1321425	Standard	NM_173536		Approved		uc003gxb.3	Q8N1C3	OTTHUMG00000128609	ENST00000295452.4:c.792delT	4.37:g.46060358delA	ENSP00000295452:p.Phe264fs						p.F264fs	NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN		Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)	7	959	-			264					Q5H9T8	Frame_Shift_Del	DEL	ENST00000295452.4	37	c.792delT	CCDS3470.1																																																																																				0.294	GABRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250470.1	NM_173536		9	272						9	272	---	---	---	---
C4orf22	255119	broad.mit.edu	37	4	81791253	81791254	+	Frame_Shift_Ins	INS	-	-	A	rs146690045		TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr4:81791253_81791254insA	ENST00000358105.3	+	4	489_490	c.440_441insA	c.(439-444)ggaaaafs	p.GK147fs	C4orf22_ENST00000508675.1_Frame_Shift_Ins_p.GK164fs	NM_152770.2	NP_689983.2	Q6V702	CD022_HUMAN	chromosome 4 open reading frame 22	147								p.G147E(1)		NS(1)|large_intestine(3)|lung(5)|prostate(1)|skin(5)	15						TACTTTACTGGAAAAAAAAGAC	0.371																																						ENST00000358105.3																			1	Substitution - Missense(1)	p.G147E(1)	skin(1)	NS(1)|large_intestine(3)|lung(5)|prostate(1)|skin(5)	15						c.(439-441)gaafs		chromosome 4 open reading frame 22																																				SO:0001589	frameshift_variant	255119							g.chr4:81791253_81791254insA	BC034296	CCDS3587.1, CCDS56336.1	4q21.21	2008-02-05			ENSG00000197826	ENSG00000197826			28554	protein-coding gene	gene with protein product						12477932	Standard	NM_152770		Approved		uc010ijp.3	Q6V702	OTTHUMG00000130289	ENST00000358105.3:c.448dupA	4.37:g.81791261_81791261dupA	ENSP00000350818:p.Gly147fs					C4orf22_ENST00000508675.1_Frame_Shift_Ins_p.E164fs	p.E147fs	NM_152770.2	NP_689983.2	Q6V702	CD022_HUMAN			4	489_490	+			147					E7EQ13|Q6ZQY4|Q8N4G9	Frame_Shift_Ins	INS	ENST00000358105.3	37	c.440_441insA	CCDS3587.1																																																																																				0.371	C4orf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252629.2	NM_152770		7	441						7	441	---	---	---	---
PDZD2	23037	broad.mit.edu	37	5	32090059	32090061	+	In_Frame_Del	DEL	TCC	TCC	-	rs61744453|rs75551718	byFrequency	TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr5:32090059_32090061delTCC	ENST00000438447.1	+	20	6893_6895	c.6505_6507delTCC	c.(6505-6507)tccdel	p.S2173del	PDZD2_ENST00000282493.3_In_Frame_Del_p.S2173del			O15018	PDZD2_HUMAN	PDZ domain containing 2	2173	Ser-rich.				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						AAAACTGGCGTCCTCCTCCTCCT	0.527																																						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.(6505-6507)del		PDZ domain containing 2																																				SO:0001651	inframe_deletion	23037				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		g.chr5:32090059_32090061delTCC	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.6505_6507delTCC	5.37:g.32090068_32090070delTCC	ENSP00000402033:p.Ser2173del					PDZD2_ENST00000282493.3_In_Frame_Del_p.S2173del	p.S2173del			O15018	PDZD2_HUMAN			20	6893_6895	+			2173			Ser-rich.		Q9BXD4	In_Frame_Del	DEL	ENST00000438447.1	37	c.6505_6507delTCC	CCDS34137.1																																																																																				0.527	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1			7	551						7	551	---	---	---	---
RNF145	153830	broad.mit.edu	37	5	158630642	158630642	+	5'UTR	DEL	T	T	-	rs74770414|rs202186112		TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr5:158630642delT	ENST00000424310.2	-	0	343				RNF145_ENST00000274542.2_Frame_Shift_Del_p.K26fs|RNF145_ENST00000520638.1_Frame_Shift_Del_p.K12fs|RNF145_ENST00000518802.1_Frame_Shift_Del_p.K28fs|RNF145_ENST00000521606.2_Frame_Shift_Del_p.K15fs|RNF145_ENST00000519865.1_5'UTR	NM_001199383.1	NP_001186312.1	Q96MT1	RN145_HUMAN	ring finger protein 145							integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			tttttttttcttttttttttt	0.363																																						ENST00000274542.2																			0				endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						c.(67-69)agfs		ring finger protein 145							31.0	34.0	33.0					5																	158630642		2202	4300	6502	SO:0001623	5_prime_UTR_variant	153830					integral to membrane	zinc ion binding	g.chr5:158630642delT	BC042684	CCDS4344.1, CCDS56390.1, CCDS56391.1, CCDS56392.1, CCDS56393.1	5q33.3	2013-01-09			ENSG00000145860	ENSG00000145860		"""RING-type (C3HC4) zinc fingers"""	20853	protein-coding gene	gene with protein product							Standard	NM_001199380		Approved	FLJ31951	uc003lxo.2	Q96MT1	OTTHUMG00000130306	ENST00000424310.2:c.-17A>-	5.37:g.158630642delT						RNF145_ENST00000518802.1_Frame_Shift_Del_p.K28fs|RNF145_ENST00000520638.1_Frame_Shift_Del_p.K12fs|RNF145_ENST00000519865.1_5'UTR|RNF145_ENST00000521606.2_Frame_Shift_Del_p.K15fs|RNF145_ENST00000424310.2_5'UTR	p.K26fs	NM_144726.2	NP_653327.1	Q96MT1	RN145_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		2	94	-	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	0					B7Z903|B7Z949|E7EVI7|Q8IVP7	Frame_Shift_Del	DEL	ENST00000424310.2	37	c.68delA	CCDS56390.1																																																																																				0.363	RNF145-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374048.1	NM_144726		12	220						12	220	---	---	---	---
CTC-338M12.9	0	broad.mit.edu	37	5	180708697	180708698	+	lincRNA	INS	-	-	A	rs1815381|rs57699261		TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr5:180708697_180708698insA	ENST00000412295.2	+	0	238																											ggggcggtaggcgggggctgga	0.718																																						ENST00000412295.2																			0																																																			0							g.chr5:180708697_180708698insA																													5.37:g.180708697_180708698insA														0	238	+									RNA	INS	ENST00000412295.2	37																																																																																						0.718	CTC-338M12.9-001	KNOWN	basic|exp_conf	lincRNA	lincRNA	OTTHUMT00000372940.1			9	35						9	35	---	---	---	---
BTN2A3P	54718	broad.mit.edu	37	6	26422388	26422390	+	RNA	DEL	CCT	CCT	-	rs113134648	byFrequency	TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr6:26422388_26422390delCCT	ENST00000466808.2	+	0	42_44							Q96KV6	BT2A3_HUMAN	butyrophilin, subfamily 2, member A3, pseudogene							integral component of membrane (GO:0016021)											GGCCAGCCTCCCTCCTCCTCCTC	0.586																																						ENST00000466808.2																			0																	383,304,2,3575		10,8,0,355,12,0,272,0,2,1473						0.4	0.0		dbSNP_134	150	684,576,1,6991		22,7,0,633,28,0,513,0,1,2922	no	intergenic				32,15,0,988,40,0,785,0,3,4395	A1A1,A1A2,A1A3,A1R,A2A2,A2A3,A2R,A3A3,A3R,RR		15.2811,16.1585,15.5801				1067,880,3,10566						0							g.chr6:26422388_26422390delCCT	AL021917		6p22.1	2014-01-14	2011-09-06	2011-09-06	ENSG00000124549	ENSG00000124549		"""Butyrophilins"""	13229	pseudogene	pseudogene		613592	"""butyrophilin, subfamily 2, member A3"""	BTN2A3			Standard	NR_027795		Approved	BTN2.3	uc011dkl.1	Q96KV6	OTTHUMG00000014453		6.37:g.26422397_26422399delCCT														0	42_44	+								A6NEF4	RNA	DEL	ENST00000466808.2	37																																																																																						0.586	BTN2A3P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000040118.4	NR_027795		7	525						7	525	---	---	---	---
SYNGAP1	8831	broad.mit.edu	37	6	33411201	33411203	+	In_Frame_Del	DEL	CAC	CAC	-			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr6:33411201_33411203delCAC	ENST00000418600.2	+	15	2973_2975	c.2872_2874delCAC	c.(2872-2874)cacdel	p.H966del	SYNGAP1_ENST00000293748.5_In_Frame_Del_p.H966del|SYNGAP1_ENST00000496374.1_3'UTR|SYNGAP1_ENST00000428982.2_In_Frame_Del_p.H907del	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	966					dendrite development (GO:0016358)|negative regulation of axonogenesis (GO:0050771)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Ras protein signal transduction (GO:0046580)|pattern specification process (GO:0007389)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|receptor clustering (GO:0043113)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of MAPK cascade (GO:0043408)|regulation of synapse structure and activity (GO:0050803)|regulation of synaptic plasticity (GO:0048167)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	Rab GTPase activator activity (GO:0005097)|Ras GTPase activator activity (GO:0005099)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						TTCCTCccatcaccaccaccacc	0.645																																						ENST00000418600.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						c.(2872-2874)del		synaptic Ras GTPase activating protein 1																																				SO:0001651	inframe_deletion	8831				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|SH3 domain binding	g.chr6:33411201_33411203delCAC	AB067525	CCDS34434.2	6p21.3	2010-06-25	2010-06-25		ENSG00000197283	ENSG00000197283			11497	protein-coding gene	gene with protein product		603384	"""synaptic Ras GTPase activating protein 1 homolog (rat)"""			9581761, 18323856	Standard	NM_006772		Approved	SYNGAP, RASA5, KIAA1938	uc011dri.2	Q96PV0	OTTHUMG00000031096	ENST00000418600.2:c.2872_2874delCAC	6.37:g.33411210_33411212delCAC	ENSP00000403636:p.His966del					SYNGAP1_ENST00000293748.5_In_Frame_Del_p.H966del|SYNGAP1_ENST00000428982.2_In_Frame_Del_p.H907del|SYNGAP1_ENST00000496374.1_3'UTR	p.H966del	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN			15	2973_2975	+			966					A2AB17|A2BEL6|A2BEL7|A8MQC4|Q8TCS2|Q9UGE2	In_Frame_Del	DEL	ENST00000418600.2	37	c.2872_2874delCAC	CCDS34434.2																																																																																				0.645	SYNGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076151.4	XM_166407		8	749						8	749	---	---	---	---
CLIC5	53405	broad.mit.edu	37	6	45917054	45917054	+	Frame_Shift_Del	DEL	C	C	-			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr6:45917054delC	ENST00000185206.6	-	3	867	c.715delG	c.(715-717)gacfs	p.D239fs	CLIC5_ENST00000544153.1_Frame_Shift_Del_p.D80fs|CLIC5_ENST00000339561.6_Frame_Shift_Del_p.D80fs	NM_001114086.1	NP_001107558.1	Q9NZA1	CLIC5_HUMAN	chloride intracellular channel 5	239					auditory receptor cell stereocilium organization (GO:0060088)|chloride transport (GO:0006821)|diet induced thermogenesis (GO:0002024)|female pregnancy (GO:0007565)|neuromuscular process controlling balance (GO:0050885)|protein localization (GO:0008104)|sensory perception of sound (GO:0007605)|transport (GO:0006810)	actin cytoskeleton (GO:0015629)|chloride channel complex (GO:0034707)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|stereocilium (GO:0032420)	voltage-gated chloride channel activity (GO:0005247)			endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	13						GTCTTCACGTCCCCGTTGAAG	0.537																																						ENST00000185206.6																			0				endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	13						c.(715-717)acfs		chloride intracellular channel 5							152.0	144.0	147.0					6																	45917054		2203	4300	6503	SO:0001589	frameshift_variant	53405				female pregnancy	actin cytoskeleton|cell cortex|chloride channel complex|Golgi apparatus|insoluble fraction|microtubule organizing center	protein binding|voltage-gated chloride channel activity	g.chr6:45917054delC	AF216941	CCDS4914.1, CCDS47438.1, CCDS59022.1	6p12.3	2014-03-14			ENSG00000112782	ENSG00000112782		"""Ion channels / Chloride channels : Intracellular"""	13517	protein-coding gene	gene with protein product		607293				10793131	Standard	NM_001114086		Approved		uc003oxv.3	Q9NZA1	OTTHUMG00000014775	ENST00000185206.6:c.715delG	6.37:g.45917054delC	ENSP00000185206:p.Asp239fs					CLIC5_ENST00000544153.1_Frame_Shift_Del_p.D80fs|CLIC5_ENST00000339561.6_Frame_Shift_Del_p.D80fs	p.D239fs	NM_001114086.1	NP_001107558.1	Q9NZA1	CLIC5_HUMAN			3	867	-			239					B3KUF1|Q5T4Z0|Q8NBY3|Q96JT5|Q9BWZ0	Frame_Shift_Del	DEL	ENST00000185206.6	37	c.715delG	CCDS47438.1																																																																																				0.537	CLIC5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040761.1			17	551						17	551	---	---	---	---
PHF3	23469	broad.mit.edu	37	6	64394097	64394097	+	Frame_Shift_Del	DEL	A	A	-			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr6:64394097delA	ENST00000262043.3	+	4	814	c.474delA	c.(472-474)acafs	p.T158fs	PHF3_ENST00000393387.1_Frame_Shift_Del_p.T158fs|PHF3_ENST00000509330.1_Frame_Shift_Del_p.T158fs			Q92576	PHF3_HUMAN	PHD finger protein 3	158					multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			TAAGTAACACAAAAAAAGCAT	0.383																																					GBM(135;136 1820 29512 34071 46235)	ENST00000262043.3																			0				breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75						c.(472-474)acfs		PHD finger protein 3							158.0	168.0	165.0					6																	64394097		2203	4300	6503	SO:0001589	frameshift_variant	23469				multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr6:64394097delA	AF091622	CCDS4966.1	6q12	2013-09-24			ENSG00000118482	ENSG00000118482		"""Zinc fingers, PHD-type"""	8921	protein-coding gene	gene with protein product		607789				11856869	Standard	XM_005248701		Approved		uc003pep.1	Q92576	OTTHUMG00000014952	ENST00000262043.3:c.474delA	6.37:g.64394097delA	ENSP00000262043:p.Thr158fs					PHF3_ENST00000509330.1_Frame_Shift_Del_p.T158fs|PHF3_ENST00000393387.1_Frame_Shift_Del_p.T158fs	p.T158fs			Q92576	PHF3_HUMAN	LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)		4	814	+	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		158					A3KFI8|Q14CR5|Q5CZI1|Q5T1T6|Q9NQ16|Q9UI45	Frame_Shift_Del	DEL	ENST00000262043.3	37	c.474delA	CCDS4966.1																																																																																				0.383	PHF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041086.2			7	1037						7	1037	---	---	---	---
TTK	7272	broad.mit.edu	37	6	80751896	80751897	+	Frame_Shift_Ins	INS	-	-	A			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr6:80751896_80751897insA	ENST00000369798.2	+	22	2662_2663	c.2551_2552insA	c.(2551-2553)gaafs	p.E851fs	TTK_ENST00000230510.3_Frame_Shift_Ins_p.E850fs|TTK_ENST00000509894.1_Frame_Shift_Ins_p.E850fs	NM_001166691.1|NM_003318.4	NP_001160163.1|NP_003309.2	P33981	TTK_HUMAN	TTK protein kinase	851					chromosome separation (GO:0051304)|mitotic spindle assembly checkpoint (GO:0007094)|mitotic spindle organization (GO:0007052)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|spindle organization (GO:0007051)	membrane (GO:0016020)|spindle (GO:0005819)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)	p.R838fs*4(3)|p.R838fs*>4(2)|p.R838fs*>5(1)		endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)		BRCA - Breast invasive adenocarcinoma(397;0.0321)		CAAGACTTTTGAAAAAAAAAGG	0.302																																						ENST00000509894.1																			6	Deletion - Frameshift(5)|Insertion - Frameshift(1)	p.R838fs*4(3)|p.R838fs*>4(2)|p.R838fs*>5(1)	stomach(2)|ovary(2)|lung(1)|large_intestine(1)	endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53						c.(2548-2550)aaafs		TTK protein kinase																																				SO:0001589	frameshift_variant	7272				mitotic cell cycle spindle assembly checkpoint|mitotic spindle organization|positive regulation of cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation	spindle	ATP binding|identical protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr6:80751896_80751897insA		CCDS4993.1, CCDS55040.1	6q14.1	2014-04-07			ENSG00000112742	ENSG00000112742			12401	protein-coding gene	gene with protein product	"""cancer/testis antigen 96"", ""monopolar spindle 1 kinase"""	604092				1639825	Standard	NM_003318		Approved	MPS1, MPS1L1, CT96, MPH1	uc003pjc.3	P33981	OTTHUMG00000015088	ENST00000369798.2:c.2560dupA	6.37:g.80751905_80751905dupA	ENSP00000358813:p.Glu851fs					TTK_ENST00000369798.2_Frame_Shift_Ins_p.K851fs|TTK_ENST00000230510.3_Frame_Shift_Ins_p.K850fs	p.K850fs			P33981	TTK_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0321)	22	3377_3378	+		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)	851					A8K8U5|B2RDW2|E1P543|Q15272|Q5TCS0|Q9BW51|Q9NTM0	Frame_Shift_Ins	INS	ENST00000369798.2	37	c.2548_2549insA	CCDS4993.1																																																																																				0.302	TTK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041316.2			10	406						10	406	---	---	---	---
UTRN	7402	broad.mit.edu	37	6	144769847	144769849	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr6:144769847_144769849delCCT	ENST00000367545.3	+	16	2014_2016	c.2014_2016delCCT	c.(2014-2016)cctdel	p.P677del		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	677	Interaction with SYNM.				aging (GO:0007568)|muscle cell differentiation (GO:0042692)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|neuron projection morphogenesis (GO:0048812)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane (GO:0016020)|membrane raft (GO:0045121)|myofibril (GO:0030016)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)	p.P672H(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		GCAGGAACTGCCTCCTCCTCCTC	0.409																																						ENST00000367545.3																			1	Substitution - Missense(1)	p.P672H(1)	lung(1)	NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148						c.(2014-2016)del		utrophin																																				SO:0001651	inframe_deletion	7402				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding	g.chr6:144769847_144769849delCCT	AK023675	CCDS34547.1	6q24	2008-02-05	2006-12-13		ENSG00000152818	ENSG00000152818			12635	protein-coding gene	gene with protein product		128240	"""utrophin (homologous to dystrophin)"""	DMDL		1426262	Standard	NM_007124		Approved	DRP, DRP1	uc003qkt.3	P46939	OTTHUMG00000015746	ENST00000367545.3:c.2014_2016delCCT	6.37:g.144769856_144769858delCCT	ENSP00000356515:p.Pro677del						p.P677del	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)	16	2014_2016	+		Ovarian(120;0.218)	677			Interaction with SYNM.		Q5SYY1|Q5SZ57|Q9UJ40	In_Frame_Del	DEL	ENST00000367545.3	37	c.2014_2016delCCT	CCDS34547.1																																																																																				0.409	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042551.1			8	384						8	384	---	---	---	---
OR9A4	130075	broad.mit.edu	37	7	141619203	141619203	+	Frame_Shift_Del	DEL	T	T	-			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr7:141619203delT	ENST00000548136.1	+	1	587	c.528delT	c.(526-528)aatfs	p.N176fs	MGAM_ENST00000497554.1_Intron	NM_001001656.1	NP_001001656.1	Q8NGU2	OR9A4_HUMAN	olfactory receptor, family 9, subfamily A, member 4	176						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2)	22	Melanoma(164;0.0171)					TGGTGAACAATTTTTTTTGTG	0.383																																						ENST00000548136.1																			0				NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2)	22						c.(526-528)aafs		olfactory receptor, family 9, subfamily A, member 4							152.0	152.0	152.0					7																	141619203		2056	4243	6299	SO:0001589	frameshift_variant	130075				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:141619203delT		CCDS43661.1	7q34	2012-10-03			ENSG00000258083	ENSG00000258083		"""GPCR / Class A : Olfactory receptors"""	15095	protein-coding gene	gene with protein product							Standard	NM_001001656		Approved		uc003vwu.1	Q8NGU2	OTTHUMG00000158370	ENST00000548136.1:c.528delT	7.37:g.141619203delT	ENSP00000448789:p.Asn176fs					MGAM_ENST00000497554.1_Intron	p.N176fs	NM_001001656.1	NP_001001656.1	Q8NGU2	OR9A4_HUMAN			1	587	+	Melanoma(164;0.0171)		176					B9EGV6|Q6IFI4	Frame_Shift_Del	DEL	ENST00000548136.1	37	c.528delT	CCDS43661.1																																																																																				0.383	OR9A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350806.3	NM_001001656		11	854						11	854	---	---	---	---
TRBV7-4	28594	broad.mit.edu	37	7	142176678	142176679	+	RNA	DEL	CA	CA	-	rs147246909		TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr7:142176678_142176679delCA	ENST00000390369.2	-	0	49									T cell receptor beta variable 7-4 (gene/pseudogene)																		GTAGTCATCGCACACACACACA	0.46																																						ENST00000390369.2																			0																	118,3528		13,92,1718						-5.4	0.0			116	306,7588		28,250,3669	no	intergenic				41,342,5387	A1A1,A1R,RR		3.8764,3.2364,3.6742				424,11116						0							g.chr7:142176678_142176679delCA	L36092		7q34	2012-02-07	2008-09-12		ENSG00000253409	ENSG00000253409		"""T cell receptors / TRB locus"""	12238	other	T cell receptor gene			"""T cell receptor beta variable 7-4"""			8650574	Standard	NG_001333		Approved	TRBV74, TCRBV6S8A2T, TCRBV7S4			OTTHUMG00000158508		7.37:g.142176688_142176689delCA														0	49	-									RNA	DEL	ENST00000390369.2	37																																																																																						0.460	TRBV7-4-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000351214.2	NG_001333		10	249						10	249	---	---	---	---
SGK223	157285	broad.mit.edu	37	8	8234868	8234869	+	In_Frame_Ins	INS	-	-	GCCGCT	rs59372311|rs150979349	byFrequency	TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr8:8234868_8234869insGCCGCT	ENST00000520004.1	-	3	1314_1315	c.1050_1051insAGCGGC	c.(1048-1053)ggcgcc>ggcAGCGGCgcc	p.349_350insGS	SGK223_ENST00000330777.4_In_Frame_Ins_p.349_350insGS			Q86YV5	SG223_HUMAN		349							ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)	p.G350_A351insSG(1)|p.G350_S351insSG(1)									GGGCTACTGGCGCCGCTGCCGC	0.653														2980	0.595048	0.7254	0.4942	5008	,	,		15838	0.629		0.3827	False		,,,				2504	0.6738				GBM(34;731 755 10259 33573 33867)	ENST00000520004.1																			2	Insertion - In frame(2)	p.G350_A351insSG(1)|p.G350_S351insSG(1)	breast(2)								c.(1048-1053)ggccag>ggAGCGGCccag																																						SO:0001652	inframe_insertion	0						ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr8:8234868_8234869insGCCGCT																												ENST00000520004.1:c.1045_1050dupAGCGGC	8.37:g.8234869_8234874dupGCCGCT	ENSP00000428054:p.Gly348_Ser349dup					SGK223_ENST00000330777.4_In_Frame_Ins_p.350_351GQ>GAAQ	p.350_351GQ>GAAQ			Q86YV5	SG223_HUMAN			3	1314_1315	-			350					Q8N3N5	In_Frame_Ins	INS	ENST00000520004.1	37	c.1050_1051insAGCGGC	CCDS43706.1																																																																																				0.653	SGK223-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374864.1			17	90						17	90	---	---	---	---
DLC1	10395	broad.mit.edu	37	8	12957611	12957613	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr8:12957611_12957613delGCT	ENST00000276297.4	-	9	2642_2644	c.2233_2235delAGC	c.(2233-2235)agcdel	p.S745del	DLC1_ENST00000520226.1_In_Frame_Del_p.S234del|DLC1_ENST00000512044.2_In_Frame_Del_p.S342del|DLC1_ENST00000358919.2_In_Frame_Del_p.S308del	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	745	Focal adhesion-targeting (FAT).|Poly-Ser.				actin cytoskeleton organization (GO:0030036)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|focal adhesion assembly (GO:0048041)|forebrain development (GO:0030900)|heart morphogenesis (GO:0003007)|hindbrain morphogenesis (GO:0021575)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	lipid binding (GO:0008289)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						TCTCCGACTGGCTGCTGCTGCTG	0.621																																						ENST00000276297.4																			0				NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						c.(2233-2235)del		deleted in liver cancer 1																																				SO:0001651	inframe_deletion	10395				actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding	g.chr8:12957611_12957613delGCT	AF035119	CCDS5989.1, CCDS5990.1, CCDS5991.1, CCDS5991.2, CCDS55201.1	8p22	2014-06-20	2014-06-20		ENSG00000164741	ENSG00000164741		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	2897	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 12"""	604258	"""deleted in liver cancer 1"""			9605766, 11214970	Standard	NM_182643		Approved	HP, ARHGAP7, STARD12, DLC-1, p122-RhoGAP	uc003wwm.2	Q96QB1	OTTHUMG00000090825	ENST00000276297.4:c.2233_2235delAGC	8.37:g.12957620_12957622delGCT	ENSP00000276297:p.Ser745del					DLC1_ENST00000512044.2_In_Frame_Del_p.S342del|DLC1_ENST00000520226.1_In_Frame_Del_p.S234del|DLC1_ENST00000358919.2_In_Frame_Del_p.S308del	p.S745del	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN			9	2642_2644	-			745			Poly-Ser.		B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	In_Frame_Del	DEL	ENST00000276297.4	37	c.2233_2235delAGC	CCDS5989.1																																																																																				0.621	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207632.2	NM_182643, NM_006094		7	326						7	326	---	---	---	---
WRN	7486	broad.mit.edu	37	8	30945377	30945379	+	In_Frame_Del	DEL	AAG	AAG	-	rs555283914	byFrequency	TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr8:30945377_30945379delAAG	ENST00000298139.5	+	12	1766_1768	c.1517_1519delAAG	c.(1516-1521)aaagaa>aaa	p.E510del		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	510	Poly-Glu.				aging (GO:0007568)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to starvation (GO:0009267)|DNA duplex unwinding (GO:0032508)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA replication (GO:0006260)|DNA synthesis involved in DNA repair (GO:0000731)|double-strand break repair (GO:0006302)|multicellular organismal aging (GO:0010259)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleolus to nucleoplasm transport (GO:0032066)|positive regulation of hydrolase activity (GO:0051345)|regulation of apoptotic process (GO:0042981)|regulation of growth rate (GO:0040009)|replication fork processing (GO:0031297)|replicative cell aging (GO:0001302)|response to oxidative stress (GO:0006979)|response to UV-C (GO:0010225)|telomere maintenance (GO:0000723)	centrosome (GO:0005813)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	3'-5' DNA helicase activity (GO:0043138)|3'-5' exonuclease activity (GO:0008408)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|bubble DNA binding (GO:0000405)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|exonuclease activity (GO:0004527)|four-way junction helicase activity (GO:0009378)|G-quadruplex DNA binding (GO:0051880)|helicase activity (GO:0004386)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|Y-form DNA binding (GO:0000403)			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		CTTCCTACTAaagaagaagaaga	0.36			"""Mis, N, F, S"""			"""osteosarcoma, meningioma, others"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome					3	0.000599042	0.0	0.0	5008	,	,		22085	0.001		0.001	False		,,,				2504	0.001				Ovarian(18;161 598 2706 14834 27543)	ENST00000298139.5			yes	Rec		Werner Syndrome	8	8p12-p11.2	7486	"""Mis, N, F, S"""	Werner syndrome (RECQL2)			"""L, E, M, O"""		"""osteosarcoma, meningioma, others"""			0				central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60						c.(1516-1521)aaa>a	Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome, RecQ helicase-like																																				SO:0001651	inframe_deletion	7486	Werner syndrome	Familial Cancer Database	WS, Adult Progeria	base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding	g.chr8:30945377_30945379delAAG		CCDS6082.1	8p12	2014-09-17	2009-03-19		ENSG00000165392	ENSG00000165392			12791	protein-coding gene	gene with protein product		604611	"""Werner syndrome"""			9288107	Standard	NM_000553		Approved	RECQL2, RECQ3	uc003xio.4	Q14191	OTTHUMG00000163894	ENST00000298139.5:c.1517_1519delAAG	8.37:g.30945386_30945388delAAG	ENSP00000298139:p.Glu510del						p.KE506del	NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)	12	1766_1768	+		Breast(100;0.195)	506					A1KYY9	In_Frame_Del	DEL	ENST00000298139.5	37	c.1517_1519delAAG	CCDS6082.1																																																																																				0.360	WRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376248.1			7	344						7	344	---	---	---	---
TP53INP1	94241	broad.mit.edu	37	8	95952409	95952411	+	In_Frame_Del	DEL	TCT	TCT	-	rs548441545|rs563445319	byFrequency	TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr8:95952409_95952411delTCT	ENST00000342697.4	-	3	557_559	c.150_152delAGA	c.(148-153)gaagag>gag	p.50_51EE>E	TP53INP1_ENST00000448464.2_In_Frame_Del_p.50_51EE>E|TP53INP1_ENST00000378776.4_In_Frame_Del_p.50_51EE>E|NDUFAF6_ENST00000396113.1_Intron	NM_033285.3	NP_150601.1	Q96A56	T53I1_HUMAN	tumor protein p53 inducible nuclear protein 1	50	Glu-rich.				apoptotic process (GO:0006915)|autophagic cell death (GO:0048102)|autophagy (GO:0006914)|cell cycle arrest (GO:0007050)|cellular response to ethanol (GO:0071361)|cellular response to hydroperoxide (GO:0071447)|cellular response to methyl methanesulfonate (GO:0072703)|cellular response to UV (GO:0034644)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of autophagy (GO:0010508)|positive regulation of transcription, DNA-templated (GO:0045893)|response to heat (GO:0009408)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|nucleus (GO:0005634)	antioxidant activity (GO:0016209)	p.E50E(1)		kidney(2)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	9	Breast(36;8.75e-07)					GATGTCCTCCTCTTCTTCTTCTT	0.458														16	0.00319489	0.0045	0.0014	5008	,	,		22458	0.0		0.001	False		,,,				2504	0.0082					ENST00000342697.4																			1	Substitution - coding silent(1)	p.E50E(1)	large_intestine(1)	kidney(2)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	9						c.(148-153)gag>ga		tumor protein p53 inducible nuclear protein 1			,	50,2,4210		0,0,50,0,2,2079					,	-3.8	0.0			119	68,3,8183		0,0,68,0,3,4056	no	codingComplex,codingComplex	TP53INP1	NM_033285.3,NM_001135733.1	,	0,0,118,0,5,6135	A1A1,A1A2,A1R,A2A2,A2R,RR		0.8602,1.2201,0.9827	,	,		118,5,12393				SO:0001651	inframe_deletion	0				apoptosis	PML body		g.chr8:95952409_95952411delTCT	AF409115	CCDS6265.1, CCDS47899.1	8q22	2004-03-11				ENSG00000164938			18022	protein-coding gene	gene with protein product		606185				11511362, 12438758	Standard	NM_033285		Approved	DKFZp434M1317, FLJ22139, P53DINP1, SIP, TP53INP1A, TP53INP1B, Teap	uc003yhg.3	Q96A56		ENST00000342697.4:c.150_152delAGA	8.37:g.95952418_95952420delTCT	ENSP00000344215:p.Glu52del					TP53INP1_ENST00000378776.4_In_Frame_Del_p.EE50del|NDUFAF6_ENST00000396113.1_Intron|TP53INP1_ENST00000448464.2_In_Frame_Del_p.EE50del	p.EE50del	NM_033285.3	NP_150601.1	Q96A56	T53I1_HUMAN			3	557_559	-	Breast(36;8.75e-07)		50			Glu-rich.		B2RCE5|Q969R9	In_Frame_Del	DEL	ENST00000342697.4	37	c.150_152delAGA	CCDS6265.1																																																																																				0.458	TP53INP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379818.1			7	246						7	246	---	---	---	---
TM9SF3	56889	broad.mit.edu	37	10	98336474	98336475	+	Frame_Shift_Ins	INS	-	-	T			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr10:98336474_98336475insT	ENST00000371142.4	-	2	430_431	c.214_215insA	c.(214-216)agtfs	p.S72fs		NM_020123.3	NP_064508.3	Q9HD45	TM9S3_HUMAN	transmembrane 9 superfamily member 3	72						integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(2)|prostate(1)	15		Colorectal(252;0.158)		Epithelial(162;1.84e-09)|all cancers(201;2.84e-08)		ATGACTGATACTTTTTTTTGAC	0.361																																						ENST00000371142.4																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(2)|prostate(1)	15						c.(214-216)tatfs		transmembrane 9 superfamily member 3																																				SO:0001589	frameshift_variant	56889					integral to membrane	binding	g.chr10:98336474_98336475insT	AF160213, AF269150	CCDS7450.1	10q24.2	2006-04-12			ENSG00000077147	ENSG00000077147			21529	protein-coding gene	gene with protein product						11530251, 11595169	Standard	NM_020123		Approved	SMBP	uc001kmm.4	Q9HD45	OTTHUMG00000018834	ENST00000371142.4:c.215dupA	10.37:g.98336482_98336482dupT	ENSP00000360184:p.Ser72fs						p.Y72fs	NM_020123.3	NP_064508.3	Q9HD45	TM9S3_HUMAN		Epithelial(162;1.84e-09)|all cancers(201;2.84e-08)	2	430_431	-		Colorectal(252;0.158)	72					Q5TB57|Q6UWE7|Q9NWL8|Q9P0G9|Q9UHW8	Frame_Shift_Ins	INS	ENST00000371142.4	37	c.214_215insA	CCDS7450.1																																																																																				0.361	TM9SF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049610.2	NM_020123		7	471						7	471	---	---	---	---
SLK	9748	broad.mit.edu	37	10	105727547	105727549	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr10:105727547_105727549delAGA	ENST00000369755.3	+	1	589_591	c.44_46delAGA	c.(43-48)gagaag>gag	p.K19del	SLK_ENST00000335753.4_In_Frame_Del_p.K19del	NM_014720.2	NP_055535.2	Q9H2G2	SLK_HUMAN	STE20-like kinase	19	Poly-Lys.				apoptotic process (GO:0006915)|protein autophosphorylation (GO:0046777)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)			kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2)	8		Colorectal(252;0.178)		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		TTGGGGAGCGAGAAGAAGAAGAA	0.448																																					NSCLC(111;540 1651 1927 4474 17706)	ENST00000369755.3																			0				kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2)	8						c.(43-48)gag>g		STE20-like kinase																																				SO:0001651	inframe_deletion	9748				apoptosis|nucleotide-excision repair	cytoplasm|plasma membrane	ATP binding|DNA binding|nuclease activity|protein serine/threonine kinase activity	g.chr10:105727547_105727549delAGA		CCDS7553.1	10q25.1	2010-06-25	2010-06-25		ENSG00000065613	ENSG00000065613			11088	protein-coding gene	gene with protein product			"""SNF1 (sucrose nonfermenting, yeast, homolog)-like kinase, SNF1 sucrose nonfermenting like kinase (yeast)"", ""STE20-like kinase (yeast)"""			3526554	Standard	NM_014720		Approved	STK2, se20-9, KIAA0204	uc001kxo.1	Q9H2G2	OTTHUMG00000018999	ENST00000369755.3:c.44_46delAGA	10.37:g.105727556_105727558delAGA	ENSP00000358770:p.Lys19del					SLK_ENST00000335753.4_In_Frame_Del_p.EK15del	p.EK15del	NM_014720.2	NP_055535.2	Q9H2G2	SLK_HUMAN		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)	1	589_591	+		Colorectal(252;0.178)	15					D3DRA0|D3DRA1|O00211|Q6P1Z4|Q86WU7|Q86WW1|Q92603|Q9NQL0|Q9NQL1	In_Frame_Del	DEL	ENST00000369755.3	37	c.44_46delAGA	CCDS7553.1																																																																																				0.448	SLK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050188.1	NM_014720		7	489						7	489	---	---	---	---
NUP98	4928	broad.mit.edu	37	11	3720389	3720389	+	Frame_Shift_Del	DEL	T	T	-			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr11:3720389delT	ENST00000324932.7	-	25	4352	c.3932delA	c.(3931-3933)aacfs	p.N1311fs	NUP98_ENST00000355260.3_Frame_Shift_Del_p.N1311fs|NUP98_ENST00000359171.4_Frame_Shift_Del_p.N1311fs|NUP98_ENST00000488828.1_5'Flank	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa	1328					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|DNA replication (GO:0006260)|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)|nuclear pore organization (GO:0006999)|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)	cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nuclear pore outer ring (GO:0031080)|nucleoplasm (GO:0005654)	peptide binding (GO:0042277)|structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		CACAGGGCTGTTTTTTTGGGT	0.512			T	"""HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"""	AML																																	ENST00000324932.7				Dom	yes		11	11p15	4928	T	nucleoporin 98kDa			L	"""HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"""		AML		0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66						c.(3931-3933)acfs		nucleoporin 98kDa							176.0	183.0	180.0					11																	3720389		2201	4298	6499	SO:0001589	frameshift_variant	4928				carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex	protein binding|structural constituent of nuclear pore|transporter activity	g.chr11:3720389delT	AF071076, AF231130, BC012906, BG773331	CCDS7746.1, CCDS31347.1, CCDS41605.1, CCDS41606.1	11p15	2008-02-26	2002-08-29		ENSG00000110713	ENSG00000110713			8068	protein-coding gene	gene with protein product		601021	"""nucleoporin 98kD"""			9166830	Standard	NM_139131		Approved	NUP96	uc001lyh.3	P52948	OTTHUMG00000011846	ENST00000324932.7:c.3932delA	11.37:g.3720389delT	ENSP00000316032:p.Asn1311fs					NUP98_ENST00000355260.3_Frame_Shift_Del_p.N1311fs|NUP98_ENST00000359171.4_Frame_Shift_Del_p.N1311fs	p.N1311fs	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)	25	4352	-		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)	1328					Q8IUT2|Q8WYB0|Q96E54|Q9H3Q4|Q9NT02|Q9UF57|Q9UHX0|Q9Y6J4|Q9Y6J5	Frame_Shift_Del	DEL	ENST00000324932.7	37	c.3932delA	CCDS7746.1																																																																																				0.512	NUP98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032766.3	NM_016320		13	1030						13	1030	---	---	---	---
SPON1	10418	broad.mit.edu	37	11	14276276	14276277	+	RNA	DEL	GT	GT	-	rs144833103		TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr11:14276276_14276277delGT	ENST00000310358.7	+	0	1627							Q9HCB6	SPON1_HUMAN	spondin 1, extracellular matrix protein						cell adhesion (GO:0007155)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	21				Epithelial(150;0.00898)		GACCTATGAGGTGTGTGTGTGT	0.594																																						ENST00000310358.7																			0				NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	21								spondin 1, extracellular matrix protein				1,106,4101		0,0,1,3,100,2000						5.7	1.0		dbSNP_134	77	4,167,8025		0,0,4,1,165,3928	no	splice-5	SPON1	NM_006108.3		0,0,5,4,265,5928	A1A1,A1A2,A1R,A2A2,A2R,RR		2.0864,2.5428,2.2412				5,273,12126						10418				cell adhesion	extracellular space|proteinaceous extracellular matrix	protein binding	g.chr11:14276276_14276277delGT	AB018305	CCDS73262.1	11p15.2	2014-05-06	2004-03-05		ENSG00000152268	ENSG00000262655			11252	protein-coding gene	gene with protein product		604989	"""spondin 1, (f-spondin) extracellular matrix protein"""			9872452	Standard	NM_006108		Approved	KIAA0762, f-spondin	uc001mle.3	Q9HCB6	OTTHUMG00000181576		11.37:g.14276286_14276287delGT										Q9HCB6	SPON1_HUMAN		Epithelial(150;0.00898)	0	1627	+								A8K6W5|O94862|Q8NCD7|Q8WUR5	RNA	DEL	ENST00000310358.7	37																																																																																						0.594	SPON1-201	KNOWN	basic	processed_transcript	processed_transcript		NM_145584		8	246						8	246	---	---	---	---
RELA	5970	broad.mit.edu	37	11	65421971	65421972	+	Frame_Shift_Ins	INS	-	-	G			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr11:65421971_65421972insG	ENST00000406246.3	-	11	1794_1795	c.1533_1534insC	c.(1531-1536)cccgacfs	p.D512fs	RELA_ENST00000308639.9_Frame_Shift_Ins_p.D509fs|RELA_ENST00000525693.1_3'UTR	NM_001243984.1|NM_001243985.1|NM_021975.3	NP_001230913.1|NP_001230914.1|NP_068810.3	Q04206	TF65_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog A	512					acetaldehyde metabolic process (GO:0006117)|aging (GO:0007568)|cellular defense response (GO:0006968)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to interleukin-1 (GO:0071347)|cellular response to interleukin-6 (GO:0071354)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to nicotine (GO:0071316)|cellular response to peptide hormone stimulus (GO:0071375)|cellular response to tumor necrosis factor (GO:0071356)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|Fc-epsilon receptor signaling pathway (GO:0038095)|hair follicle development (GO:0001942)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|liver development (GO:0001889)|membrane protein intracellular domain proteolysis (GO:0031293)|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 extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of protein catabolic process (GO:0042177)|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)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|organ morphogenesis (GO:0009887)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of Schwann cell differentiation (GO:0014040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|regulation of inflammatory response (GO:0050727)|response to amino acid (GO:0043200)|response to cAMP (GO:0051591)|response to cobalamin (GO:0033590)|response to drug (GO:0042493)|response to insulin (GO:0032868)|response to interleukin-1 (GO:0070555)|response to mechanical stimulus (GO:0009612)|response to morphine (GO:0043278)|response to muramyl dipeptide (GO:0032495)|response to organic substance (GO:0010033)|response to progesterone (GO:0032570)|response to UV-B (GO:0010224)|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)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|NF-kappaB binding (GO:0051059)|phosphate ion binding (GO:0042301)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|repressing transcription factor binding (GO:0070491)|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)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)	p.D512fs*35(1)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(11)|ovary(1)|urinary_tract(1)	19						GGAGCTGGGTCGGGGGGCCTCT	0.624																																						ENST00000406246.3																			1	Deletion - Frameshift(1)	p.D512fs*35(1)	large_intestine(1)	central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(11)|ovary(1)|urinary_tract(1)	19						c.(1531-1536)ccacccfs		v-rel avian reticuloendotheliosis viral oncogene homolog A																																				SO:0001589	frameshift_variant	5970				anti-apoptosis|cellular defense response|cytokine-mediated signaling pathway|defense response to virus|inflammatory response|innate immune response|interspecies interaction between organisms|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription, DNA-dependent|nerve growth factor receptor signaling pathway|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of inflammatory response|response to interleukin-1|response to UV-B|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	cytosol|transcription factor complex	activating transcription factor binding|chromatin binding|identical protein binding|NF-kappaB binding|phosphate binding|protein kinase binding|protein N-terminus binding|repressing transcription factor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding	g.chr11:65421971_65421972insG	Z22951	CCDS31609.1, CCDS44651.1, CCDS73322.1	11q13	2013-07-09	2013-07-09		ENSG00000173039	ENSG00000173039			9955	protein-coding gene	gene with protein product		164014	"""nuclear factor of kappa light polypeptide gene enhancer in B-cells 3"""	NFKB3		2001591	Standard	NM_021975		Approved	p65	uc001ofg.3	Q04206	OTTHUMG00000166566	ENST00000406246.3:c.1534dupC	11.37:g.65421977_65421977dupG	ENSP00000384273:p.Asp512fs					RELA_ENST00000525693.1_3'UTR|RELA_ENST00000308639.9_Frame_Shift_Ins_p.P509fs	p.P512fs	NM_001243984.1|NM_001243985.1|NM_021975.3	NP_001230913.1|NP_001230914.1|NP_068810.3	Q04206	TF65_HUMAN			11	1794_1795	-			512					Q6GTV1|Q6SLK1	Frame_Shift_Ins	INS	ENST00000406246.3	37	c.1533_1534insC	CCDS31609.1																																																																																				0.624	RELA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390457.2	NM_021975		10	265						10	265	---	---	---	---
UVRAG	7405	broad.mit.edu	37	11	75694430	75694431	+	Splice_Site	INS	-	-	A	rs369320979		TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr11:75694430_75694431insA	ENST00000356136.3	+	8	940_941		c.e8-1		UVRAG_ENST00000539288.1_5'Flank|UVRAG_ENST00000532130.1_Splice_Site|UVRAG_ENST00000531818.1_Splice_Site|UVRAG_ENST00000528420.1_Splice_Site|UVRAG_ENST00000533454.1_Splice_Site	NM_003369.3	NP_003360.2	Q9P2Y5	UVRAG_HUMAN	UV radiation resistance associated						DNA repair (GO:0006281)|positive regulation of autophagy (GO:0010508)|SNARE complex assembly (GO:0035493)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|late endosome (GO:0005770)|lysosome (GO:0005764)|phagocytic vesicle (GO:0045335)|protein complex (GO:0043234)				central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(15)|skin(5)|urinary_tract(2)	32						TATTTATTTAGAAAAAAAAAAG	0.302																																						ENST00000356136.3																			0				central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(15)|skin(5)|urinary_tract(2)	32						c.e8-1		UV radiation resistance associated																																				SO:0001630	splice_region_variant	7405				DNA repair|positive regulation of autophagy	early endosome|late endosome|lysosome	protein binding	g.chr11:75694430_75694431insA	X99050, AB012958	CCDS8241.1	11q13	2012-11-15	2012-11-15		ENSG00000198382	ENSG00000198382			12640	protein-coding gene	gene with protein product	"""beclin 1 binding protein"""	602493	"""UV radiation resistance associated gene"""			9169138, 16799551, 18843052	Standard	NM_003369		Approved	VPS38	uc001oxc.3	Q9P2Y5	OTTHUMG00000165319	ENST00000356136.3:c.700-1->A	11.37:g.75694440_75694440dupA						UVRAG_ENST00000531818.1_Splice_Site|UVRAG_ENST00000528420.1_Splice_Site|UVRAG_ENST00000532130.1_Splice_Site|UVRAG_ENST00000533454.1_Splice_Site		NM_003369.3	NP_003360.2	Q9P2Y5	UVRAG_HUMAN			8	940_941	+								B3KTC1|O00392	Splice_Site	INS	ENST00000356136.3	37		CCDS8241.1																																																																																				0.302	UVRAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383430.1	NM_003369	Intron	8	206						8	206	---	---	---	---
PAK1	5058	broad.mit.edu	37	11	77069990	77069992	+	In_Frame_Del	DEL	CAT	CAT	-			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr11:77069990_77069992delCAT	ENST00000356341.3	-	6	1079_1081	c.548_550delATG	c.(547-552)gatgct>gct	p.D183del	PAK1_ENST00000278568.4_In_Frame_Del_p.D183del|PAK1_ENST00000528203.1_In_Frame_Del_p.D85del|PAK1_ENST00000530617.1_In_Frame_Del_p.D183del|PAK1_ENST00000525542.1_5'UTR	NM_002576.4	NP_002567.3	Q13153	PAK1_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 1	183	Interaction with CRIPAK.				actin cytoskeleton reorganization (GO:0031532)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cellular response to insulin stimulus (GO:0032869)|dendrite development (GO:0016358)|exocytosis (GO:0006887)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of cell proliferation involved in contact inhibition (GO:0060244)|neuromuscular junction development (GO:0007528)|neuron projection morphogenesis (GO:0048812)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|receptor clustering (GO:0043113)|response to hypoxia (GO:0001666)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|wound healing (GO:0042060)	axon (GO:0030424)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|growth cone (GO:0030426)|intercalated disc (GO:0014704)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|Z disc (GO:0030018)	ATP binding (GO:0005524)|collagen binding (GO:0005518)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(13)|skin(2)|stomach(1)	29	all_cancers(14;1.75e-18)					GGTGGGGTAGcatcatcatcatc	0.478																																						ENST00000356341.3																			0				NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(13)|skin(2)|stomach(1)	29						c.(547-552)gct>g		p21 protein (Cdc42/Rac)-activated kinase 1			,	392,0,3872		189,0,14,0,0,1929					,	3.9	1.0		dbSNP_134	110	824,25,7405		391,0,42,0,25,3669	no	codingComplex,codingComplex	PAK1	NM_002576.4,NM_001128620.1	,	580,0,56,0,25,5598	A1A1,A1A2,A1R,A2A2,A2R,RR		10.2859,9.1932,9.9137	,	,		1216,25,11277				SO:0001651	inframe_deletion	5058				apoptosis|axon guidance|cytoskeleton organization|ER-nucleus signaling pathway|positive regulation of JUN kinase activity|positive regulation of peptidyl-serine phosphorylation|protein autophosphorylation|T cell costimulation|T cell receptor signaling pathway	cytosol|focal adhesion|Golgi apparatus	ATP binding|collagen binding|protein binding|protein serine/threonine kinase activity	g.chr11:77069990_77069992delCAT	U51120	CCDS8250.1, CCDS44687.1	11q13-q14	2008-06-17	2008-06-17						8590	protein-coding gene	gene with protein product	"""STE20 homolog, yeast"""	602590	"""p21/Cdc42/Rac1-activated kinase 1 (yeast Ste20-related)"", ""p21/Cdc42/Rac1-activated kinase 1 (STE20 homolog, yeast)"""			8805275, 9533029	Standard	NM_002576		Approved		uc001oyg.4	Q13153		ENST00000356341.3:c.548_550delATG	11.37:g.77069999_77070001delCAT	ENSP00000348696:p.Asp183del					PAK1_ENST00000528203.1_In_Frame_Del_p.DA85del|PAK1_ENST00000278568.4_In_Frame_Del_p.DA183del|PAK1_ENST00000530617.1_In_Frame_Del_p.DA183del|PAK1_ENST00000525542.1_5'UTR	p.DA183del	NM_002576.4	NP_002567.3	Q13153	PAK1_HUMAN			6	1079_1081	-	all_cancers(14;1.75e-18)		183			Interaction with CRIPAK.		O75561|Q13567|Q32M53|Q32M54|Q86W79	In_Frame_Del	DEL	ENST00000356341.3	37	c.548_550delATG	CCDS8250.1																																																																																				0.478	PAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382083.2	NM_002576		11	536						11	536	---	---	---	---
MMP12	4321	broad.mit.edu	37	11	102745470	102745473	+	RNA	DEL	CAAA	CAAA	-	rs28360358	byFrequency	TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr11:102745470_102745473delCAAA	ENST00000532855.1	-	0	199							P39900	MMP12_HUMAN	matrix metallopeptidase 12 (macrophage elastase)						collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|proteolysis (GO:0006508)|wound healing, spreading of epidermal cells (GO:0035313)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)|Marimastat(DB00786)	TACGTAAaagcaaacaaacaaaca	0.324														1218	0.243211	0.416	0.1542	5008	,	,		22019	0.1567		0.2157	False		,,,				2504	0.1902					ENST00000532855.1																			0				autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26								matrix metallopeptidase 12 (macrophage elastase)	Acetohydroxamic Acid(DB00551)																																					4321				positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr11:102745470_102745473delCAAA	L23808	CCDS73375.1	11q22.3	2009-02-26	2005-08-08			ENSG00000262406			7158	protein-coding gene	gene with protein product		601046	"""matrix metalloproteinase 12 (macrophage elastase)"""				Standard	NM_002426		Approved	HME	uc001phk.3	P39900			11.37:g.102745478_102745481delCAAA										P39900	MMP12_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.014)	0	199	-		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)						B2R9X8|B7ZLF6|Q2M1L9	RNA	DEL	ENST00000532855.1	37																																																																																						0.324	MMP12-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000386646.1	NM_002426		8	9						8	9	---	---	---	---
CADM1	23705	broad.mit.edu	37	11	115080312	115080314	+	In_Frame_Del	DEL	TGG	TGG	-	rs370430583		TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr11:115080312_115080314delTGG	ENST00000452722.3	-	8	1078_1080	c.1058_1060delCCA	c.(1057-1062)accatc>atc	p.T353del	CADM1_ENST00000537140.1_Intron|CADM1_ENST00000542447.2_Intron|CADM1_ENST00000536727.1_Intron|CADM1_ENST00000537058.1_In_Frame_Del_p.T353del|CADM1_ENST00000331581.6_In_Frame_Del_p.T353del	NM_014333.3	NP_055148.3			cell adhesion molecule 1											cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)		atggtaaggatggtggtggtggt	0.429																																						ENST00000537058.1																			0				cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32						c.(1057-1062)atc>a		cell adhesion molecule 1																																				SO:0001651	inframe_deletion	23705				adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity	basolateral plasma membrane|cell-cell junction|integral to membrane	PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding	g.chr11:115080312_115080314delTGG	AB017563	CCDS8373.1, CCDS53711.1, CCDS73397.1, CCDS73398.1, CCDS73399.1	11q23.2	2013-01-29	2007-02-07	2007-02-07	ENSG00000182985	ENSG00000182985		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5951	protein-coding gene	gene with protein product	"""nectin-like 2"""	605686	"""tumor suppressor in lung cancer 1"", ""immunoglobulin superfamily, member 4"""	TSLC1, IGSF4		10610705	Standard	NM_014333		Approved	NECL2, ST17, BL2, SYNCAM, IGSF4A, Necl-2, SYNCAM1, RA175	uc001ppi.4	Q9BY67	OTTHUMG00000168202	ENST00000452722.3:c.1058_1060delCCA	11.37:g.115080321_115080323delTGG	ENSP00000395359:p.Thr353del					CADM1_ENST00000537140.1_Intron|CADM1_ENST00000536727.1_Intron|CADM1_ENST00000331581.6_In_Frame_Del_p.TI353del|CADM1_ENST00000452722.2_In_Frame_Del_p.TI353del|CADM1_ENST00000542447.2_Intron	p.TI353del			Q9BY67	CADM1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)	8	1078_1080	-	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)	353	PPTTIPPPTTTTTTTTTTTTTILTIIT -> TTATTEPAVH GLTQLPNSAEELDSEDLS (in Ref. 3; BAC11657).					In_Frame_Del	DEL	ENST00000452722.3	37	c.1058_1060delCCA	CCDS8373.1																																																																																				0.429	CADM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398753.2	NM_014333		9	287						9	287	---	---	---	---
PVRL1	5818	broad.mit.edu	37	11	119535678	119535680	+	In_Frame_Del	DEL	CCT	CCT	-	rs539461545|rs375181781|rs369523216		TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr11:119535678_119535680delCCT	ENST00000264025.3	-	6	1861_1863	c.1331_1333delAGG	c.(1330-1335)gagggc>ggc	p.E444del	PVRL1_ENST00000341398.2_Intron	NM_002855.4	NP_002846.3	Q15223	PVRL1_HUMAN	poliovirus receptor-related 1 (herpesvirus entry mediator C)	444	Poly-Glu.				adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|desmosome organization (GO:0002934)|enamel mineralization (GO:0070166)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|immune response (GO:0006955)|iron ion transport (GO:0006826)|lens morphogenesis in camera-type eye (GO:0002089)|regulation of synapse assembly (GO:0051963)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|viral entry into host cell (GO:0046718)	adherens junction (GO:0005912)|axon (GO:0030424)|cell-cell adherens junction (GO:0005913)|extracellular region (GO:0005576)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)|synapse (GO:0045202)	carbohydrate binding (GO:0030246)|cell adhesion molecule binding (GO:0050839)|coreceptor activity (GO:0015026)|protein homodimerization activity (GO:0042803)|virion binding (GO:0046790)|virus receptor activity (GO:0001618)	p.E444fs*>73(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.29e-05)		CCTCCACCGCcctcctcctcctc	0.66																																						ENST00000264025.3																			1	Deletion - Frameshift(1)	p.E444fs*>73(1)	kidney(1)	breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(1330-1335)ggc>g		poliovirus receptor-related 1 (herpesvirus entry mediator C)																																				SO:0001651	inframe_deletion	5818				adherens junction organization|cell junction assembly|entry of virus into host cell|heterophilic cell-cell adhesion|homophilic cell adhesion|immune response	cell-cell adherens junction|extracellular region|integral to membrane	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity	g.chr11:119535678_119535680delCCT	X76400	CCDS8425.1, CCDS8426.1, CCDS8427.1	11q23-q24	2013-01-29	2007-06-07		ENSG00000110400	ENSG00000110400		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9706	protein-coding gene	gene with protein product	"""nectin"""	600644		HVEC, ED4		7721102, 9616127	Standard	NM_203285		Approved	PRR, PRR1, PVRR1, SK-12, HIgR, CLPED1, CD111, OFC7	uc001pwv.3	Q15223	OTTHUMG00000166177	ENST00000264025.3:c.1331_1333delAGG	11.37:g.119535687_119535689delCCT	ENSP00000264025:p.Glu444del					PVRL1_ENST00000341398.2_Intron	p.EG444del	NM_002855.4	NP_002846.3	Q15223	PVRL1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.29e-05)	6	1861_1863	-		Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	444			Poly-Glu.		O75465|Q2M3D3|Q9HBE6|Q9HBW2	In_Frame_Del	DEL	ENST00000264025.3	37	c.1331_1333delAGG	CCDS8426.1																																																																																				0.660	PVRL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388231.1			8	162						8	162	---	---	---	---
ROBO3	64221	broad.mit.edu	37	11	124750448	124750453	+	In_Frame_Del	DEL	CGGAGT	CGGAGT	-	rs55725290|rs56085444|rs71859853	byFrequency	TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr11:124750448_124750453delCGGAGT	ENST00000397801.1	+	27	4285_4290	c.4093_4098delCGGAGT	c.(4093-4098)cggagtdel	p.RS1367del	ROBO3_ENST00000543966.1_In_Frame_Del_p.RS130del|ROBO3_ENST00000538940.1_In_Frame_Del_p.RS1345del|ROBO3_ENST00000525482.1_3'UTR	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3 (Drosophila)	1367					axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|neuron migration (GO:0001764)	axon (GO:0030424)|integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		TGgccggagccggagtcggagtcaga	0.66														2107	0.420727	0.6664	0.2392	5008	,	,		17575	0.378		0.2883	False		,,,				2504	0.3978					ENST00000397801.1																			0				breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35						c.(4093-4098)del		roundabout, axon guidance receptor, homolog 3 (Drosophila)				2069,1609		709,651,479						2.4	1.0		dbSNP_130	17	1833,5925		332,1169,2378	no	coding	ROBO3	NM_022370.3		1041,1820,2857	A1A1,A1R,RR		23.6272,43.7466,34.1203				3902,7534				SO:0001651	inframe_deletion	64221				axon midline choice point recognition	integral to membrane	receptor activity	g.chr11:124750448_124750453delCGGAGT	AK024697	CCDS44755.1	11q24	2013-02-11	2001-11-28		ENSG00000154134	ENSG00000154134		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	13433	protein-coding gene	gene with protein product		608630	"""roundabout (axon guidance receptor, Drosophila) homolog 3"", ""horizontal gaze palsy with progressive scoliosis"""	HGPPS		15105459	Standard	NM_022370		Approved	RBIG1, FLJ21044, HGPS	uc001qbc.3	Q96MS0	OTTHUMG00000165934	ENST00000397801.1:c.4093_4098delCGGAGT	11.37:g.124750454_124750459delCGGAGT	ENSP00000380903:p.Arg1367_Ser1368del					ROBO3_ENST00000543966.1_In_Frame_Del_p.RS130del|ROBO3_ENST00000538940.1_In_Frame_Del_p.RS1345del|ROBO3_ENST00000525482.1_3'UTR	p.RS1367del	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)	27	4285_4290	+	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)	1367						In_Frame_Del	DEL	ENST00000397801.1	37	c.4093_4098delCGGAGT	CCDS44755.1																																																																																				0.660	ROBO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387091.1	XM_370663		11	17						11	17	---	---	---	---
CHD4	1108	broad.mit.edu	37	12	6711207	6711209	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr12:6711207_6711209delCTT	ENST00000357008.2	-	4	518_520	c.355_357delAAG	c.(355-357)aagdel	p.K119del	CHD4_ENST00000544040.1_In_Frame_Del_p.K112del|CHD4_ENST00000544484.1_In_Frame_Del_p.K116del|CHD4_ENST00000309577.6_In_Frame_Del_p.K119del	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	119	Poly-Lys.				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)	p.K119delK(3)		central_nervous_system(2)	2						TAGGTCCAAGCTTCTTCTTCTTC	0.537																																					Colon(32;586 792 4568 16848 45314)	ENST00000309577.6																			3	Deletion - In frame(3)	p.K119delK(3)	central_nervous_system(3)	central_nervous_system(2)	2						c.(355-357)del		chromodomain helicase DNA binding protein 4				115,4123		4,107,2008						4.7	1.0			29	227,7995		2,223,3886	no	coding	CHD4	NM_001273.2		6,330,5894	A1A1,A1R,RR		2.7609,2.7135,2.7448				342,12118				SO:0001651	inframe_deletion	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.chr12:6711207_6711209delCTT	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.355_357delAAG	12.37:g.6711216_6711218delCTT	ENSP00000349508:p.Lys119del					CHD4_ENST00000357008.2_In_Frame_Del_p.K119del|CHD4_ENST00000544040.1_In_Frame_Del_p.K112del|CHD4_ENST00000544484.1_In_Frame_Del_p.K116del	p.K119del			Q14839	CHD4_HUMAN			4	518_520	-			119			Poly-Lys.		Q8IXZ5	In_Frame_Del	DEL	ENST00000357008.2	37	c.355_357delAAG	CCDS8552.1																																																																																				0.537	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001273		11	231						11	231	---	---	---	---
KRT73	319101	broad.mit.edu	37	12	53001991	53001991	+	Frame_Shift_Del	DEL	T	T	-			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr12:53001991delT	ENST00000305748.3	-	9	1646	c.1612delA	c.(1612-1614)accfs	p.T538fs	RP11-641A6.2_ENST00000552364.1_RNA|RP11-641A6.2_ENST00000551089.1_RNA	NM_175068.2	NP_778238.1	Q86Y46	K2C73_HUMAN	keratin 73	538	Tail.					extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.189)		TATCTCATGGTTTTTTTGGTG	0.532																																						ENST00000305748.3																			0				NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(1612-1614)ccfs		keratin 73				2,4262		1,0,2131	239.0	258.0	252.0			2.0	0.6	12		254	19,8235		8,3,4116	no	frameshift	KRT73	NM_175068.2		9,3,6247	A1A1,A1R,RR		0.2302,0.0469,0.1678			53001991	21,12497	2203	4300	6503	SO:0001589	frameshift_variant	319101					keratin filament	structural molecule activity	g.chr12:53001991delT	AJ508776	CCDS8834.1	12q13.13	2013-06-25			ENSG00000186049	ENSG00000186049		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28928	protein-coding gene	gene with protein product		608247				12648212, 16831889	Standard	NM_175068		Approved	KRT6IRS3, K6IRS3	uc001sas.3	Q86Y46	OTTHUMG00000169746	ENST00000305748.3:c.1612delA	12.37:g.53001991delT	ENSP00000307014:p.Thr538fs					RP11-641A6.2_ENST00000551089.1_RNA	p.T538fs	NM_175068.2	NP_778238.1	Q86Y46	K2C73_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	9	1646	-			538			Tail.		Q32MB2	Frame_Shift_Del	DEL	ENST00000305748.3	37	c.1612delA	CCDS8834.1																																																																																				0.532	KRT73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405700.1	NM_175068		8	892						8	892	---	---	---	---
OR10A7	121364	broad.mit.edu	37	12	55615114	55615116	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr12:55615114_55615116delCTT	ENST00000326258.1	+	1	306_308	c.306_308delCTT	c.(304-309)tacttc>tac	p.F107del		NM_001005280.1	NP_001005280.1	Q8NGE5	O10A7_HUMAN	olfactory receptor, family 10, subfamily A, member 7	107						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3)	24						CCCAGATGTACTTCTTCTTCTTC	0.414																																						ENST00000326258.1																			0				endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3)	24						c.(304-309)tac>ta		olfactory receptor, family 10, subfamily A, member 7																																				SO:0001651	inframe_deletion	121364				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55615114_55615116delCTT	BK004327	CCDS31815.1	12q13.13	2012-08-09				ENSG00000179919		"""GPCR / Class A : Olfactory receptors"""	15329	protein-coding gene	gene with protein product							Standard	NM_001005280		Approved		uc010spf.2	Q8NGE5	OTTHUMG00000169860	ENST00000326258.1:c.306_308delCTT	12.37:g.55615123_55615125delCTT	ENSP00000326718:p.Phe107del						p.YF102del	NM_001005280.1	NP_001005280.1	Q8NGE5	O10A7_HUMAN			1	306_308	+			102					Q6IFD5|Q96R19	In_Frame_Del	DEL	ENST00000326258.1	37	c.306_308delCTT	CCDS31815.1																																																																																				0.414	OR10A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406308.1			7	738						7	738	---	---	---	---
TMBIM4	51643	broad.mit.edu	37	12	66531936	66531937	+	Frame_Shift_Ins	INS	-	-	A	rs199863727	byFrequency	TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr12:66531936_66531937insA	ENST00000358230.3	-	7	640_641	c.520_521insT	c.(520-522)tatfs	p.Y174fs	TMBIM4_ENST00000398033.4_Frame_Shift_Ins_p.I159fs|TMBIM4_ENST00000542724.1_Frame_Shift_Ins_p.Y143fs|TMBIM4_ENST00000544599.1_5'UTR|TMBIM4_ENST00000556010.1_Intron|TMBIM4_ENST00000539652.1_Intron|TMBIM4_ENST00000286424.7_Frame_Shift_Ins_p.Y221fs	NM_016056.2	NP_057140.2	Q9HC24	LFG4_HUMAN	transmembrane BAX inhibitor motif containing 4	174					apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|regulation of calcium-mediated signaling (GO:0050848)	Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|large_intestine(4)|ovary(1)|prostate(2)	9				GBM - Glioblastoma multiforme(28;0.0745)		TATCTCACTATAAAAAAAAAAC	0.351																																						ENST00000358230.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|ovary(1)|prostate(2)	9						c.(520-522)tagfs		transmembrane BAX inhibitor motif containing 4																																				SO:0001589	frameshift_variant	51643					integral to membrane	protein binding	g.chr12:66531936_66531937insA	AF113127	CCDS41805.1, CCDS61187.1, CCDS73493.1	12q14.3	2014-05-09			ENSG00000155957	ENSG00000155957			24257	protein-coding gene	gene with protein product						11042152, 10810093	Standard	NM_001282609		Approved	CGI-119, S1R, ZPRO, LFG4, GAAP	uc001stc.3	Q9HC24	OTTHUMG00000168973	ENST00000358230.3:c.521dupT	12.37:g.66531946_66531946dupA	ENSP00000350965:p.Tyr174fs					TMBIM4_ENST00000286424.7_Frame_Shift_Ins_p.*221fs|TMBIM4_ENST00000542724.1_Frame_Shift_Ins_p.*143fs|TMBIM4_ENST00000398033.4_Frame_Shift_Ins_p.S159fs|TMBIM4_ENST00000544599.1_5'UTR|TMBIM4_ENST00000556010.1_Intron|TMBIM4_ENST00000539652.1_Intron	p.*174fs	NM_016056.2	NP_057140.2	Q9HC24	TMBI4_HUMAN		GBM - Glioblastoma multiforme(28;0.0745)	7	640_641	-			174					Q542Z6|Q9UHY5|Q9Y3C2	Frame_Shift_Ins	INS	ENST00000358230.3	37	c.520_521insT	CCDS41805.1																																																																																				0.351	TMBIM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401832.2	NM_016056		10	182						10	182	---	---	---	---
SACS	26278	broad.mit.edu	37	13	23914687	23914687	+	Frame_Shift_Del	DEL	T	T	-			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr13:23914687delT	ENST00000382292.3	-	9	3601	c.3328delA	c.(3328-3330)attfs	p.I1110fs	SACS_ENST00000382298.3_Frame_Shift_Del_p.I1110fs|SACS_ENST00000402364.1_Frame_Shift_Del_p.I360fs			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	1110					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		AAGGCTTCAATTTTTTTTGCC	0.383																																						ENST00000382298.3																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189						c.(3328-3330)ttfs		spastic ataxia of Charlevoix-Saguenay (sacsin)							187.0	198.0	194.0					13																	23914687		2203	4300	6503	SO:0001589	frameshift_variant	26278				cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding	g.chr13:23914687delT	AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.3328delA	13.37:g.23914687delT	ENSP00000371729:p.Ile1110fs					SACS_ENST00000402364.1_Frame_Shift_Del_p.I360fs|SACS_ENST00000382292.3_Frame_Shift_Del_p.I1110fs	p.I1110fs	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)	10	3916	-		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)	1110					O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Frame_Shift_Del	DEL	ENST00000382292.3	37	c.3328delA	CCDS9300.2																																																																																				0.383	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363		10	1117						10	1117	---	---	---	---
PABPC3	5042	broad.mit.edu	37	13	25671333	25671333	+	Frame_Shift_Del	DEL	A	A	-	rs371570689		TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr13:25671333delA	ENST00000281589.3	+	1	1034	c.997delA	c.(997-999)aaafs	p.K333fs		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	333	RRM 4. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA metabolic process (GO:0016071)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)	p.F335fs*19(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		TGGTCGCAGCAAAGGGTTTGG	0.428																																						ENST00000281589.3																			1	Deletion - Frameshift(1)	p.F335fs*19(1)	ovary(1)	breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47						c.(997-999)aafs		poly(A) binding protein, cytoplasmic 3							162.0	159.0	160.0					13																	25671333		2203	4300	6503	SO:0001589	frameshift_variant	5042				mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding	g.chr13:25671333delA	AF132026	CCDS9311.1	13q12-q13	2013-02-12	2001-11-28		ENSG00000151846	ENSG00000151846		"""RNA binding motif (RRM) containing"""	8556	protein-coding gene	gene with protein product	"""testis PABP"""	604680	"""poly(A)-binding protein, cytoplasmic 3"""	PABPL3		8432538, 10543404	Standard	NM_030979		Approved	PABP3, tPABP	uc001upy.3	Q9H361	OTTHUMG00000016601	ENST00000281589.3:c.997delA	13.37:g.25671333delA	ENSP00000281589:p.Lys333fs						p.K333fs	NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)	1	1034	+		Lung SC(185;0.0225)|Breast(139;0.0602)	333			RRM 4.		Q8NHV0|Q9H086	Frame_Shift_Del	DEL	ENST00000281589.3	37	c.997delA	CCDS9311.1																																																																																				0.428	PABPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044220.2	NM_030979		9	878						9	878	---	---	---	---
PABPC3	5042	broad.mit.edu	37	13	25671804	25671806	+	In_Frame_Del	DEL	GCT	GCT	-	rs537105482|rs150143049|rs558565724	byFrequency	TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr13:25671804_25671806delGCT	ENST00000281589.3	+	1	1505_1507	c.1468_1470delGCT	c.(1468-1470)gctdel	p.A496del		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	496					mRNA metabolic process (GO:0016071)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		ACGTCctgcagctgctgctgctg	0.532																																						ENST00000281589.3																			0				breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47						c.(1468-1470)del		poly(A) binding protein, cytoplasmic 3																																				SO:0001651	inframe_deletion	5042				mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding	g.chr13:25671804_25671806delGCT	AF132026	CCDS9311.1	13q12-q13	2013-02-12	2001-11-28		ENSG00000151846	ENSG00000151846		"""RNA binding motif (RRM) containing"""	8556	protein-coding gene	gene with protein product	"""testis PABP"""	604680	"""poly(A)-binding protein, cytoplasmic 3"""	PABPL3		8432538, 10543404	Standard	NM_030979		Approved	PABP3, tPABP	uc001upy.3	Q9H361	OTTHUMG00000016601	ENST00000281589.3:c.1468_1470delGCT	13.37:g.25671813_25671815delGCT	ENSP00000281589:p.Ala496del						p.A496del	NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)	1	1505_1507	+		Lung SC(185;0.0225)|Breast(139;0.0602)	496					Q8NHV0|Q9H086	In_Frame_Del	DEL	ENST00000281589.3	37	c.1468_1470delGCT	CCDS9311.1																																																																																				0.532	PABPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044220.2	NM_030979		10	270						10	270	---	---	---	---
FBXL3	26224	broad.mit.edu	37	13	77581683	77581683	+	Frame_Shift_Del	DEL	A	A	-			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr13:77581683delA	ENST00000355619.5	-	5	1208	c.884delT	c.(883-885)ttafs	p.L295fs	FBXL3_ENST00000477982.1_Intron	NM_012158.2	NP_036290.1	Q9UKT7	FBXL3_HUMAN	F-box and leucine-rich repeat protein 3	295					entrainment of circadian clock by photoperiod (GO:0043153)|protein destabilization (GO:0031648)|protein ubiquitination (GO:0016567)|regulation of circadian rhythm (GO:0042752)|rhythmic process (GO:0048511)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	cytosol (GO:0005829)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)	p.L295fs*3(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|urinary_tract(1)	16		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.218)		GBM - Glioblastoma multiforme(99;0.0521)		TTCTTCATATAAAAAAAAATA	0.418																																						ENST00000355619.5																			1	Insertion - Frameshift(1)	p.L295fs*3(1)	lung(1)	breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|urinary_tract(1)	16						c.(883-885)tafs		F-box and leucine-rich repeat protein 3							72.0	73.0	72.0					13																	77581683		2203	4300	6503	SO:0001589	frameshift_variant	26224				regulation of circadian rhythm|rhythmic process|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|SCF ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	g.chr13:77581683delA	AF129532	CCDS9457.1	13q22	2011-06-09	2004-07-20	2004-07-21	ENSG00000005812	ENSG00000005812		"""F-boxes / Leucine-rich repeats"""	13599	protein-coding gene	gene with protein product		605653	"""F-box and leucine-rich repeat protein 3A"""	FBXL3A		10531035, 10828603	Standard	NM_012158		Approved	FBL3, FBL3A	uc001vkd.3	Q9UKT7	OTTHUMG00000017099	ENST00000355619.5:c.884delT	13.37:g.77581683delA	ENSP00000347834:p.Leu295fs					FBXL3_ENST00000477982.1_Intron	p.L295fs	NM_012158.2	NP_036290.1	Q9UKT7	FBXL3_HUMAN		GBM - Glioblastoma multiforme(99;0.0521)	5	1208	-		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.218)	295					B2RB04|Q9P122	Frame_Shift_Del	DEL	ENST00000355619.5	37	c.884delT	CCDS9457.1																																																																																				0.418	FBXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045312.3			8	288						8	288	---	---	---	---
SRP54-AS1	100506157	broad.mit.edu	37	14	35390295	35390296	+	RNA	INS	-	-	TT	rs113610910|rs58748020|rs398077685|rs77795256	byFrequency	TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr14:35390295_35390296insTT	ENST00000556355.1	-	0	524				RP11-85K15.2_ENST00000555015.1_RNA																							CACATATTGCAttttttttttt	0.436																																						ENST00000556355.1																			0																																																			0							g.chr14:35390295_35390296insTT																													14.37:g.35390304_35390305dupTT														0	524	-									RNA	INS	ENST00000556355.1	37																																																																																						0.436	RP11-85K15.2-004	KNOWN	basic	antisense	processed_transcript	OTTHUMT00000410682.2			6	7						6	7	---	---	---	---
PTPN21	11099	broad.mit.edu	37	14	88945628	88945630	+	In_Frame_Del	DEL	TCC	TCC	-	rs201949704|rs370943979		TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr14:88945628_88945630delTCC	ENST00000556564.1	-	13	2429_2431	c.2145_2147delGGA	c.(2143-2148)gaggac>gac	p.E715del	PTPN21_ENST00000328736.3_In_Frame_Del_p.E715del	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type 21	715	Poly-Glu.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						GAAGTCCTCGTCCTCCTCCTCCT	0.704																																						ENST00000556564.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(2143-2148)gac>ga		protein tyrosine phosphatase, non-receptor type 21																																				SO:0001651	inframe_deletion	11099					cytoplasm|cytoskeleton	binding|protein tyrosine phosphatase activity	g.chr14:88945628_88945630delTCC	X79510	CCDS9884.1	14q31	2011-06-09				ENSG00000070778		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9651	protein-coding gene	gene with protein product		603271				7519780	Standard	NM_007039		Approved	PTPD1, PTPRL10	uc001xwv.4	Q16825		ENST00000556564.1:c.2145_2147delGGA	14.37:g.88945637_88945639delTCC	ENSP00000452414:p.Glu715del					PTPN21_ENST00000328736.3_In_Frame_Del_p.ED717del	p.ED717del	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN			13	2429_2431	-			717			Poly-Glu.			In_Frame_Del	DEL	ENST00000556564.1	37	c.2145_2147delGGA	CCDS9884.1																																																																																				0.704	PTPN21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410303.1			8	197						8	197	---	---	---	---
RIN3	79890	broad.mit.edu	37	14	93117957	93117960	+	Frame_Shift_Del	DEL	AAGA	AAGA	-			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr14:93117957_93117960delAAGA	ENST00000216487.7	+	6	722_725	c.563_566delAAGA	c.(562-567)caagaafs	p.QE188fs	RIN3_ENST00000418924.2_3'UTR	NM_024832.3	NP_079108.3	Q8TB24	RIN3_HUMAN	Ras and Rab interactor 3	188					endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|signal transduction (GO:0007165)	cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)	GTPase activator activity (GO:0005096)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36		all_cancers(154;0.0701)				AATCCTCCACAAGAAAGAGGGAAG	0.623																																						ENST00000216487.7																			0				endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36						c.(562-567)cafs		Ras and Rab interactor 3																																				SO:0001589	frameshift_variant	79890				endocytosis|signal transduction	cytoplasmic membrane-bounded vesicle|early endosome	GTPase activator activity|Ras GTPase binding	g.chr14:93117957_93117960delAAGA	BC025248	CCDS32144.1	14q32.13	2008-08-29				ENSG00000100599			18751	protein-coding gene	gene with protein product		610223				11733506	Standard	NM_024832		Approved	FLJ22439	uc001yap.3	Q8TB24		ENST00000216487.7:c.563_566delAAGA	14.37:g.93117961_93117964delAAGA	ENSP00000216487:p.Gln188fs					RIN3_ENST00000418924.2_3'UTR	p.QE188fs	NM_024832.3	NP_079108.3	Q8TB24	RIN3_HUMAN			6	722_725	+		all_cancers(154;0.0701)	188					Q76LB3|Q8NF30|Q8TEE8|Q8WYP4|Q9H6A5|Q9HAG1	Frame_Shift_Del	DEL	ENST00000216487.7	37	c.563_566delAAGA	CCDS32144.1																																																																																				0.623	RIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412269.1			8	485						8	485	---	---	---	---
IGHD	3495	broad.mit.edu	37	14	106304554	106304555	+	RNA	DEL	CG	CG	-	rs398057477|rs33962628|rs58426076	byFrequency	TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr14:106304554_106304555delCG	ENST00000390556.2	-	0	1125							P01880	IGHD_HUMAN	immunoglobulin heavy constant delta						immune response (GO:0006955)	blood microparticle (GO:0072562)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)										CCGGGAAAAACGCGCTTCCGTG	0.574														2169	0.433107	0.4849	0.3559	5008	,	,		10933	0.2808		0.5398	False		,,,				2504	0.4652					ENST00000390556.2																			0																																																			0							g.chr14:106304554_106304555delCG	K02875		14q32.33	2012-03-09			ENSG00000211898	ENSG00000211898		"""Immunoglobulins / IGH locus"""	5480	other	immunoglobulin gene	"""immunoglobulin delta"", ""constant region of heavy chain of IgD"""	147170				3922054	Standard	NG_001019		Approved	FLJ00382, FLJ46727, MGC29633	uc001ysj.3	P01880	OTTHUMG00000152538		14.37:g.106304556_106304557delCG														0	1125	-								Q6P4I8|Q8WU38	RNA	DEL	ENST00000390556.2	37																																																																																						0.574	IGHD-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	IG_C_gene	IG_C_gene	OTTHUMT00000326652.1	NG_001019		4	2						4	2	---	---	---	---
CCPG1	9236	broad.mit.edu	37	15	55651780	55651781	+	Frame_Shift_Del	DEL	TA	TA	-			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr15:55651780_55651781delTA	ENST00000310958.6	-	8	2488_2489	c.2190_2191delTA	c.(2188-2193)tatagafs	p.YR730fs	CCPG1_ENST00000425574.3_Frame_Shift_Del_p.YR347fs|CCPG1_ENST00000442196.3_Frame_Shift_Del_p.YR730fs|CCPG1_ENST00000569205.1_Frame_Shift_Del_p.YR730fs|DYX1C1-CCPG1_ENST00000565113.1_RNA	NM_001204450.1|NM_001204451.1|NM_004748.4|NM_020739.3	NP_001191379.1|NP_001191380.1|NP_004739.3|NP_065790.2	Q9ULG6	CCPG1_HUMAN	cell cycle progression 1	730					cell cycle (GO:0007049)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of Rho guanyl-nucleotide exchange factor activity (GO:2001106)	integral component of membrane (GO:0016021)				autonomic_ganglia(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|stomach(3)	30				all cancers(107;0.0354)		AAGAAGTGTCTATATATATATT	0.332																																						ENST00000310958.6																			0				autonomic_ganglia(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|stomach(3)	30						c.(2188-2193)tagafs		cell cycle progression 1																																				SO:0001589	frameshift_variant	9236				cell cycle	integral to membrane		g.chr15:55651780_55651781delTA	AF212228	CCDS42039.1, CCDS55966.1, CCDS55967.1	15q21.1	2011-04-20				ENSG00000260916			24227	protein-coding gene	gene with protein product		611326				9383053, 10574462	Standard	NM_004748		Approved	KIAA1254, CPR8	uc010bfk.2	Q9ULG6		ENST00000310958.6:c.2190_2191delTA	15.37:g.55651788_55651789delTA	ENSP00000311656:p.Tyr730fs					DYX1C1-CCPG1_ENST00000565113.1_RNA|CCPG1_ENST00000425574.3_Frame_Shift_Del_p.YR347fs|CCPG1_ENST00000442196.3_Frame_Shift_Del_p.YR730fs|CCPG1_ENST00000569205.1_Frame_Shift_Del_p.YR730fs	p.YR730fs	NM_001204450.1|NM_001204451.1|NM_004748.4|NM_020739.3	NP_001191379.1|NP_001191380.1|NP_004739.3|NP_065790.2	Q9ULG6	CCPG1_HUMAN		all cancers(107;0.0354)	8	2488_2489	-			730					A0PJH3|A8K9T0|O14712|Q05DG4|Q5U5S7|Q8IYV8|Q9BY53|Q9HA17	Frame_Shift_Del	DEL	ENST00000310958.6	37	c.2190_2191delTA	CCDS42039.1																																																																																				0.332	CCPG1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419850.1	NM_004748		8	204						8	204	---	---	---	---
SLTM	79811	broad.mit.edu	37	15	59186310	59186310	+	Frame_Shift_Del	DEL	T	T	-			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr15:59186310delT	ENST00000380516.2	-	11	1547	c.1460delA	c.(1459-1461)aatfs	p.N487fs	AC025918.2_ENST00000452467.1_RNA|SLTM_ENST00000536328.1_Frame_Shift_Del_p.N56fs	NM_001013843.1|NM_024755.2	NP_001013865.1|NP_079031.2	Q9NWH9	SLTM_HUMAN	SAFB-like, transcription modulator	487					apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						ATCACTCGTATTTTTTTTATC	0.299																																						ENST00000380516.2																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(1459-1461)atfs		SAFB-like, transcription modulator							108.0	100.0	103.0					15																	59186310		2190	4290	6480	SO:0001589	frameshift_variant	79811				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding	g.chr15:59186310delT	BC046119	CCDS10168.2	15q21.3	2013-02-12			ENSG00000137776	ENSG00000137776		"""RNA binding motif (RRM) containing"""	20709	protein-coding gene	gene with protein product							Standard	XR_243128		Approved	Met, FLJ13213	uc002afp.3	Q9NWH9	OTTHUMG00000074033	ENST00000380516.2:c.1460delA	15.37:g.59186310delT	ENSP00000369887:p.Asn487fs					SLTM_ENST00000536328.1_Frame_Shift_Del_p.N56fs	p.N487fs	NM_001013843.1|NM_024755.2	NP_001013865.1|NP_079031.2	Q9NWH9	SLTM_HUMAN			11	1547	-			487					A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Frame_Shift_Del	DEL	ENST00000380516.2	37	c.1460delA	CCDS10168.2																																																																																				0.299	SLTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157124.1	NM_024755		7	169						7	169	---	---	---	---
BRICD5	283870	broad.mit.edu	37	16	2260586	2260588	+	In_Frame_Del	DEL	CAG	CAG	-	rs371145262		TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr16:2260586_2260588delCAG	ENST00000562360.1	-	2	114_116	c.115_117delCTG	c.(115-117)ctgdel	p.L39del	RP11-304L19.8_ENST00000561544.1_lincRNA|BRICD5_ENST00000328540.3_In_Frame_Del_p.L39del|BRICD5_ENST00000566018.1_In_Frame_Del_p.L39del			Q6PL45	BRID5_HUMAN	BRICHOS domain containing 5	39						integral component of membrane (GO:0016021)											CGGCcagcaccagcagcagcagc	0.66																																						ENST00000328540.3																			0											c.(115-117)del		BRICHOS domain containing 5																																				SO:0001651	inframe_deletion	283870							g.chr16:2260586_2260588delCAG	BC039154	CCDS10463.1	16p13.3	2012-10-10	2012-10-10	2012-10-10	ENSG00000182685	ENSG00000182685		"""BRICHOS domain containing"""	28309	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 79"""	C16orf79		12477932	Standard	NM_182563		Approved	MGC21830	uc002cpi.2	Q6PL45	OTTHUMG00000128831	ENST00000562360.1:c.115_117delCTG	16.37:g.2260595_2260597delCAG	ENSP00000455052:p.Leu39del					BRICD5_ENST00000566018.1_In_Frame_Del_p.L39del|BRICD5_ENST00000562360.1_In_Frame_Del_p.L39del	p.L39del	NM_182563.3	NP_872369.2					2	1231_1233	-								C9J7K2|Q8IXU9	In_Frame_Del	DEL	ENST00000562360.1	37	c.115_117delCTG	CCDS10463.1																																																																																				0.660	BRICD5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000435091.1	NM_182563		7	142						7	142	---	---	---	---
AP1G1	164	broad.mit.edu	37	16	71803440	71803440	+	Intron	DEL	A	A	-			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr16:71803440delA	ENST00000299980.4	-	6	1084				AP1G1_ENST00000393512.3_Intron|AP1G1_ENST00000433195.2_Intron|AP1G1_ENST00000569748.1_Intron|AP1G1_ENST00000423132.2_Splice_Site	NM_001128.5	NP_001119.3	O43747	AP1G1_HUMAN	adaptor-related protein complex 1, gamma 1 subunit						antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|endosome to melanosome transport (GO:0035646)|Golgi to lysosome transport (GO:0090160)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|membrane organization (GO:0061024)|positive regulation of natural killer cell degranulation (GO:0043323)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	AP-type membrane coat adaptor complex (GO:0030119)|clathrin adaptor complex (GO:0030131)|clathrin-coated vesicle (GO:0030136)|clathrin-coated vesicle membrane (GO:0030665)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|trans-Golgi network membrane (GO:0032588)	GTP-dependent protein binding (GO:0030742)|kinesin binding (GO:0019894)|protein transporter activity (GO:0008565)|Rab GTPase binding (GO:0017137)|transporter activity (GO:0005215)			breast(1)|endometrium(8)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|urinary_tract(1)	28		Ovarian(137;0.125)				GCTTGCTTTCAAAAAAAAATA	0.378																																						ENST00000423132.2																			0				breast(1)|endometrium(8)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|urinary_tract(1)	28						c.e7-1		adaptor-related protein complex 1, gamma 1 subunit																																				SO:0001627	intron_variant	164				endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|recycling endosome	kinesin binding|protein transporter activity	g.chr16:71803440delA	Y12226	CCDS32480.1, CCDS45522.1	16q23	2009-08-03				ENSG00000166747			555	protein-coding gene	gene with protein product	"""gamma1-adaptin"""	603533		CLAPG1, ADTG		9653655, 9733768	Standard	NM_001128		Approved		uc010cgg.3	O43747		ENST00000299980.4:c.642+85T>-	16.37:g.71803440delA						AP1G1_ENST00000393512.3_Intron|AP1G1_ENST00000569748.1_Intron|AP1G1_ENST00000299980.4_Intron|AP1G1_ENST00000433195.2_Intron				O43747	AP1G1_HUMAN			7	921	-		Ovarian(137;0.125)						O75709|O75842|Q9UG09|Q9Y3U4	Splice_Site	DEL	ENST00000299980.4	37		CCDS32480.1																																																																																				0.378	AP1G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434147.1			8	154						8	154	---	---	---	---
AC005863.1	0	broad.mit.edu	37	17	14673542	14673543	+	lincRNA	INS	-	-	T			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr17:14673542_14673543insT	ENST00000379640.1	-	0	354_355																											GCTGGTCCCAGTTTTTTTTTCT	0.45																																						ENST00000379640.1																			0																	4,4260		0,4,2128						0.2	0.0			65	15,8239		0,15,4112	no	intergenic				0,19,6240	A1A1,A1R,RR		0.1817,0.0938,0.1518				19,12499						0							g.chr17:14673542_14673543insT																													17.37:g.14673551_14673551dupT														0	354_355	-									RNA	INS	ENST00000379640.1	37																																																																																						0.450	AC005863.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000130001.1			7	194						7	194	---	---	---	---
GAS2L2	246176	broad.mit.edu	37	17	34071994	34071996	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr17:34071994_34071996delTCC	ENST00000254466.6	-	6	2547_2549	c.2520_2522delGGA	c.(2518-2523)gaggaa>gaa	p.840_841EE>E	GAS2L2_ENST00000587565.1_In_Frame_Del_p.824_825EE>E	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	840					cell cycle arrest (GO:0007050)|microtubule bundle formation (GO:0001578)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	actin filament binding (GO:0051015)|cytoskeletal adaptor activity (GO:0008093)|microtubule binding (GO:0008017)			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		ctcctttccttcctcctcctcct	0.616																																						ENST00000254466.6																			0				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						c.(2518-2523)gaa>ga		growth arrest-specific 2 like 2																																				SO:0001651	inframe_deletion	246176				cell cycle arrest	cytoplasm|cytoskeleton		g.chr17:34071994_34071996delTCC	AF508784	CCDS11298.1	17q21	2014-05-06			ENSG00000132139	ENSG00000270765			24846	protein-coding gene	gene with protein product		611398				12584248	Standard	NM_139285		Approved	GAR17	uc002hjv.2	Q8NHY3	OTTHUMG00000188386	ENST00000254466.6:c.2520_2522delGGA	17.37:g.34072003_34072005delTCC	ENSP00000254466:p.Glu841del					GAS2L2_ENST00000587565.1_In_Frame_Del_p.EE824del	p.EE840del	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	6	2547_2549	-		Ovarian(249;0.17)	840					Q8NHY4	In_Frame_Del	DEL	ENST00000254466.6	37	c.2520_2522delGGA	CCDS11298.1																																																																																				0.616	GAS2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256497.1	NM_139285		7	221						7	221	---	---	---	---
SEH1L	81929	broad.mit.edu	37	18	12986927	12986929	+	3'UTR	DEL	TCC	TCC	-			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr18:12986927_12986929delTCC	ENST00000262124.11	+	0	2886_2888				SEH1L_ENST00000399892.2_In_Frame_Del_p.P385del|RP11-773H22.4_ENST00000588211.1_RNA	NM_031216.3	NP_112493.2	Q96EE3	SEH1_HUMAN	SEH1-like (S. cerevisiae)						attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation (GO:0051315)|carbohydrate metabolic process (GO:0005975)|cytokine production involved in inflammatory response (GO:0002534)|cytokine-mediated signaling pathway (GO:0019221)|defense response to Gram-positive bacterium (GO:0050830)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic metaphase plate congression (GO:0007080)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore organization (GO:0006999)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nuclear envelope (GO:0005635)|nuclear pore outer ring (GO:0031080)				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	11						CCCAGCTCCTtcctcctcctcct	0.522																																						ENST00000399892.2																			0				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	11						c.(1135-1140)ctt>ct		SEH1-like (S. cerevisiae)																																				SO:0001624	3_prime_UTR_variant	81929				attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|carbohydrate metabolic process|cell division|glucose transport|mitotic metaphase plate congression|mitotic prometaphase|mRNA transport|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex		g.chr18:12986927_12986929delTCC	BC012430	CCDS32791.1, CCDS45832.1	18p11.21	2013-01-10				ENSG00000085415		"""WD repeat domain containing"""	30379	protein-coding gene	gene with protein product	"""sec13 like protein"", ""nucleoporin Seh1"""	609263				12196509, 14517296	Standard	XM_005258152		Approved	SEH1A, SEH1B, Seh1, SEC13L	uc002krq.3	Q96EE3		ENST00000262124.11:c.*1678TCC>-	18.37:g.12986936_12986938delTCC						SEH1L_ENST00000262124.11_3'UTR|RP11-773H22.4_ENST00000588211.1_RNA	p.LP379del	NM_001013437.1	NP_001013455.1	Q96EE3	SEH1_HUMAN			9	1238_1240	+			0					A8K5B1|Q8NFU6|Q96MH3|Q9C069	In_Frame_Del	DEL	ENST00000262124.11	37	c.1137_1139delTCC	CCDS45832.1																																																																																				0.522	SEH1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458254.1	NM_031216		7	254						7	254	---	---	---	---
GADD45GIP1	90480	broad.mit.edu	37	19	13065273	13065275	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr19:13065273_13065275delGCT	ENST00000316939.1	-	2	439_441	c.416_418delAGC	c.(415-420)cagcgg>cgg	p.Q139del		NM_052850.3	NP_443082.2	Q8TAE8	G45IP_HUMAN	growth arrest and DNA-damage-inducible, gamma interacting protein 1	139	Poly-Gln.				cell cycle (GO:0007049)|viral process (GO:0016032)	mitochondrion (GO:0005739)|nucleus (GO:0005634)				ovary(2)|prostate(1)|skin(1)	4						CAGTTCTCCCGCTGCTGCTGCTG	0.635																																						ENST00000316939.1																			0				ovary(2)|prostate(1)|skin(1)	4						c.(415-420)cgg>c		growth arrest and DNA-damage-inducible, gamma interacting protein 1																																				SO:0001651	inframe_deletion	90480				cell cycle|interspecies interaction between organisms	nucleus	protein binding	g.chr19:13065273_13065275delGCT	AF479749	CCDS12290.1	19p13.2	2014-02-12				ENSG00000179271			29996	protein-coding gene	gene with protein product	"""papillomavirus L2 interacting nuclear protein 1"", ""CKII beta binding protein 2"", ""CR6 interacting factor 1"", ""p53-responsive gene 6"""	605162				10441517, 12482659	Standard	NM_052850		Approved	PLINP-1, MGC4667, MGC4758, CKBBP2, PRG6, Plinp1, CRIF1, CKbetaBP2	uc002mwb.4	Q8TAE8		ENST00000316939.1:c.416_418delAGC	19.37:g.13065282_13065284delGCT	ENSP00000323065:p.Gln139del						p.QR139del	NM_052850.2	NP_443082.2	Q8TAE8	G45IP_HUMAN			2	439_441	-			139			Poly-Gln.		Q8IVM3|Q8TE51|Q969P9|Q9BSM6	In_Frame_Del	DEL	ENST00000316939.1	37	c.416_418delAGC	CCDS12290.1																																																																																				0.635	GADD45GIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452759.2	NM_052850		8	490						8	490	---	---	---	---
HAUS8	93323	broad.mit.edu	37	19	17160706	17160707	+	Frame_Shift_Del	DEL	GA	GA	-	rs532006952		TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr19:17160706_17160707delGA	ENST00000253669.5	-	11	1399_1400	c.1209_1210delTC	c.(1207-1212)tctcgtfs	p.R404fs	CTD-2528A14.3_ENST00000598893.1_RNA|HAUS8_ENST00000593360.1_Frame_Shift_Del_p.R343fs|HAUS8_ENST00000448593.2_Frame_Shift_Del_p.R403fs			Q9BT25	HAUS8_HUMAN	HAUS augmin-like complex, subunit 8	404					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)				endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)	12						CTCCCTGAACGAGAGAGAGAGG	0.495																																						ENST00000593360.1																			0				endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)	12						c.(1024-1029)tcgtfs		HAUS augmin-like complex, subunit 8																																				SO:0001589	frameshift_variant	93323				cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle pole		g.chr19:17160706_17160707delGA	BC004398	CCDS32948.1, CCDS46009.1	19p13.11	2013-10-11	2009-04-20	2009-04-20	ENSG00000131351	ENSG00000131351		"""HAUS augmin-like complex subunits"""	30532	protein-coding gene	gene with protein product		613434	"""HEC1/NDC80 interacting, centrosome associated 1"""	HICE1		19427217	Standard	XM_005260154		Approved	MGC20533, NY-SAR-48	uc002nfe.3	Q9BT25		ENST00000253669.5:c.1209_1210delTC	19.37:g.17160714_17160715delGA	ENSP00000253669:p.Arg404fs					HAUS8_ENST00000253669.5_Frame_Shift_Del_p.SR403fs|HAUS8_ENST00000448593.2_Frame_Shift_Del_p.SR402fs	p.SR342fs			Q9BT25	HAUS8_HUMAN			10	3044_3045	-			403					B4DJA7|C9JBZ4|Q49AC4|Q86WF0|Q96FX3	Frame_Shift_Del	DEL	ENST00000253669.5	37	c.1026_1027delTC	CCDS32948.1																																																																																				0.495	HAUS8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463015.1	NM_001011699		8	962						8	962	---	---	---	---
CRTC1	23373	broad.mit.edu	37	19	18887993	18887993	+	Frame_Shift_Del	DEL	C	C	-			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr19:18887993delC	ENST00000321949.8	+	14	1732	c.1706delC	c.(1705-1707)tccfs	p.S569fs	CRTC1_ENST00000594658.1_Frame_Shift_Del_p.S528fs|CRTC1_ENST00000601916.1_Frame_Shift_Del_p.S327fs|CRTC1_ENST00000338797.6_Frame_Shift_Del_p.S585fs	NM_015321.2	NP_056136.2			CREB regulated transcription coactivator 1									p.S572fs*6(2)	CRTC1/MAML2(516)	NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	19						ACAGGAGAGTCCCCCCCCAGC	0.637																																						ENST00000338797.6																		CRTC1/MAML2(516)	2	Deletion - Frameshift(2)	p.S572fs*6(2)	large_intestine(2)	NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	19						c.(1753-1755)tcfs		CREB regulated transcription coactivator 1			,	36,4218		5,26,2096	32.0	37.0	35.0		,	3.8	1.0	19		34	39,8205		5,29,4088	no	frameshift,frameshift	CRTC1	NM_015321.2,NM_001098482.1	,	10,55,6184	A1A1,A1R,RR		0.4731,0.8463,0.6001	,	,	18887993	75,12423	2201	4298	6499	SO:0001589	frameshift_variant	23373				interspecies interaction between organisms|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	cAMP response element binding protein binding|protein binding	g.chr19:18887993delC	AY040323	CCDS32963.1, CCDS42525.1	19p13	2012-07-31	2005-11-24	2005-11-24					16062	protein-coding gene	gene with protein product	"""transducer of regulated cAMP response element-binding protein"""	607536	"""mucoepidermoid carcinoma translocated 1"""	MECT1		12539049, 14536081, 14506290	Standard	NM_015321		Approved	KIAA0616, FLJ14027, TORC1	uc010ebv.3	Q6UUV9		ENST00000321949.8:c.1706delC	19.37:g.18887993delC	ENSP00000323332:p.Ser569fs					CRTC1_ENST00000321949.8_Frame_Shift_Del_p.S569fs|CRTC1_ENST00000601916.1_Frame_Shift_Del_p.S327fs|CRTC1_ENST00000594658.1_Frame_Shift_Del_p.S528fs	p.S585fs	NM_001098482.1	NP_001091952.1	Q6UUV9	CRTC1_HUMAN			15	1779	+			569						Frame_Shift_Del	DEL	ENST00000321949.8	37	c.1754delC	CCDS32963.1																																																																																				0.637	CRTC1-002	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465151.3	NM_025021		7	367						7	367	---	---	---	---
RSPH6A	81492	broad.mit.edu	37	19	46299147	46299149	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr19:46299147_46299149delCCT	ENST00000221538.3	-	6	2274_2276	c.2132_2134delAGG	c.(2131-2136)gagggc>ggc	p.E711del	RSPH6A_ENST00000600188.1_In_Frame_Del_p.E447del|RSPH6A_ENST00000597055.1_3'UTR	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					RSPH6A_ENST00000597055.1_3'UTR|RSPH6A_ENST00000600188.1_In_Frame_Del_p.EG447del	p.EG711del	NM_030785.3	NP_110412.1	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			30	476						30	476	---	---	---	---
SLC8A2	6543	broad.mit.edu	37	19	47935681	47935683	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr19:47935681_47935683delTCC	ENST00000236877.6	-	9	2525_2527	c.2130_2132delGGA	c.(2128-2133)gaggac>gac	p.E710del	SLC8A2_ENST00000542837.1_In_Frame_Del_p.E466del|SLC8A2_ENST00000539381.1_In_Frame_Del_p.E173del|SLC8A2_ENST00000601757.1_5'UTR	NM_015063.2	NP_055878.1	Q9UPR5	NAC2_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 2	710					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)		CCGGGACCCGTCCTCCTCCTCCT	0.616																																						ENST00000236877.6																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31						c.(2128-2133)gac>ga		solute carrier family 8 (sodium/calcium exchanger), member 2																																				SO:0001651	inframe_deletion	6543				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding	g.chr19:47935681_47935683delTCC	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.2130_2132delGGA	19.37:g.47935690_47935692delTCC	ENSP00000236877:p.Glu710del					SLC8A2_ENST00000539381.1_In_Frame_Del_p.ED173del|SLC8A2_ENST00000542837.1_In_Frame_Del_p.ED466del|SLC8A2_ENST00000601757.1_5'UTR	p.ED710del	NM_015063.2	NP_055878.1	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	2525_2527	-		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)	710					B4DYQ9	In_Frame_Del	DEL	ENST00000236877.6	37	c.2130_2132delGGA	CCDS33065.1																																																																																				0.616	SLC8A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466997.1			10	515						10	515	---	---	---	---
PTH2	113091	broad.mit.edu	37	19	49926531	49926533	+	In_Frame_Del	DEL	CAG	CAG	-	rs200733272|rs371950649	byFrequency	TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr19:49926531_49926533delCAG	ENST00000270631.1	-	1	165_167	c.64_66delCTG	c.(64-66)ctgdel	p.L22del	CTD-3148I10.1_ENST00000576655.1_5'Flank	NM_178449.3	NP_848544.1	Q96A98	TIP39_HUMAN	parathyroid hormone 2	22					neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)		p.L22V(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|skin(1)	6				OV - Ovarian serous cystadenocarcinoma(262;0.0015)|GBM - Glioblastoma multiforme(486;0.044)|Lung(386;0.0785)|LUSC - Lung squamous cell carcinoma(496;0.0836)		AGGGCACCACcagcagcagcagc	0.69																																						ENST00000270631.1																			2	Substitution - Missense(2)	p.L22V(2)	endometrium(2)	endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|skin(1)	6						c.(64-66)del		parathyroid hormone 2																																				SO:0001651	inframe_deletion	113091				neuropeptide signaling pathway	extracellular region		g.chr19:49926531_49926533delCAG	AY037555	CCDS12763.1	19q13.33	2013-02-28				ENSG00000142538		"""Endogenous ligands"""	30828	protein-coding gene	gene with protein product	"""tuberoinfundibular 39 residues"""	608386				11861531	Standard	NM_178449		Approved	TIP39	uc002pnn.1	Q96A98		ENST00000270631.1:c.64_66delCTG	19.37:g.49926540_49926542delCAG	ENSP00000270631:p.Leu22del						p.L22del	NM_178449.3	NP_848544.1	Q96A98	TIP39_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0015)|GBM - Glioblastoma multiforme(486;0.044)|Lung(386;0.0785)|LUSC - Lung squamous cell carcinoma(496;0.0836)	1	165_167	-			22					Q96DJ4	In_Frame_Del	DEL	ENST00000270631.1	37	c.64_66delCTG	CCDS12763.1																																																																																				0.690	PTH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465366.1	NM_178449		7	86						7	86	---	---	---	---
FUZ	80199	broad.mit.edu	37	19	50310483	50310485	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr19:50310483_50310485delCAG	ENST00000313777.4	-	11	1343_1345	c.1180_1182delCTG	c.(1180-1182)ctgdel	p.L394del	FUZ_ENST00000445575.2_Intron|FUZ_ENST00000528094.1_In_Frame_Del_p.L358del|FUZ_ENST00000533418.1_In_Frame_Del_p.L344del|AC006942.4_ENST00000600669.1_RNA	NM_025129.4	NP_079405.2	Q9BT04	FUZZY_HUMAN	fuzzy planar cell polarity protein	394	Leu-rich.				cilium assembly (GO:0042384)|embryonic body morphogenesis (GO:0010172)|embryonic skeletal system morphogenesis (GO:0048704)|establishment of planar polarity (GO:0001736)|hair follicle development (GO:0001942)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of fibroblast growth factor receptor signaling pathway involved in neural plate anterior/posterior pattern formation (GO:2000314)|negative regulation of neural crest formation (GO:0090301)|neural tube closure (GO:0001843)|nonmotile primary cilium assembly (GO:0035058)|positive regulation of cilium assembly (GO:0045724)|protein transport (GO:0015031)|regulation of smoothened signaling pathway (GO:0008589)|spinal cord dorsal/ventral patterning (GO:0021513)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)				endometrium(1)|lung(3)	4		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00793)|GBM - Glioblastoma multiforme(134;0.0116)		TCTGGGGAGACAGCAGCAGCAGC	0.635																																						ENST00000313777.4																			0				endometrium(1)|lung(3)	4						c.(1180-1182)del		fuzzy planar cell polarity protein																																				SO:0001651	inframe_deletion	80199				cilium assembly|embryonic body morphogenesis|embryonic skeletal system morphogenesis|establishment of planar polarity|hair follicle development|neural tube closure|protein transport|regulation of smoothened signaling pathway	cytoplasm|cytoskeleton		g.chr19:50310483_50310485delCAG	BC016793	CCDS12781.1, CCDS54293.1	19q13.33	2013-03-05	2013-03-05			ENSG00000010361			26219	protein-coding gene	gene with protein product		610622	"""fuzzy homolog (Drosophila)"""			21761479	Standard	NM_001171937		Approved	FLJ22688, Fy	uc002ppq.2	Q9BT04		ENST00000313777.4:c.1180_1182delCTG	19.37:g.50310492_50310494delCAG	ENSP00000313309:p.Leu394del					FUZ_ENST00000445575.2_Intron|FUZ_ENST00000528094.1_In_Frame_Del_p.L358del|FUZ_ENST00000533418.1_In_Frame_Del_p.L344del	p.L394del	NM_025129.4	NP_079405.2	Q9BT04	FUZZY_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00793)|GBM - Glioblastoma multiforme(134;0.0116)	11	1343_1345	-		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)	394			Leu-rich.		B2RD86|B5MDH0|Q6PJY0|Q9H613	In_Frame_Del	DEL	ENST00000313777.4	37	c.1180_1182delCTG	CCDS12781.1																																																																																				0.635	FUZ-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393986.1	NM_025129		8	280						8	280	---	---	---	---
SIGLEC8	27181	broad.mit.edu	37	19	51961617	51961619	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr19:51961617_51961619delGCA	ENST00000321424.3	-	1	89_91	c.23_25delTGC	c.(22-27)ctgccc>ccc	p.L8del	SIGLEC8_ENST00000340550.5_In_Frame_Del_p.L8del|SIGLEC8_ENST00000430817.1_In_Frame_Del_p.L8del|SIGLEC8_ENST00000597352.1_5'Flank	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8	8					cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		CAGagcaggggcagcagcagcag	0.596																																						ENST00000321424.3																			0				NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50						c.(22-27)ccc>c		sialic acid binding Ig-like lectin 8																																				SO:0001651	inframe_deletion	27181				cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity	g.chr19:51961617_51961619delGCA	AF195092	CCDS33086.1	19q13.33-q13.41	2013-01-29			ENSG00000105366	ENSG00000105366		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10877	protein-coding gene	gene with protein product		605639				10625619	Standard	XR_243922		Approved	SIGLEC-8, SAF2, SIGLEC8L, MGC59785	uc002pwt.3	Q9NYZ4		ENST00000321424.3:c.23_25delTGC	19.37:g.51961626_51961628delGCA	ENSP00000321077:p.Leu8del					SIGLEC8_ENST00000430817.1_In_Frame_Del_p.LP8del|SIGLEC8_ENST00000340550.5_In_Frame_Del_p.LP8del	p.LP8del	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)	1	89_91	-		all_neural(266;0.0199)	8					Q7Z728	In_Frame_Del	DEL	ENST00000321424.3	37	c.23_25delTGC	CCDS33086.1																																																																																				0.596	SIGLEC8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463648.2	NM_014442		9	382						9	382	---	---	---	---
TMC4	147798	broad.mit.edu	37	19	54675747	54675749	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr19:54675747_54675749delTCC	ENST00000376591.4	-	2	332_334	c.201_203delGGA	c.(199-204)gaggat>gat	p.E67del	TMC4_ENST00000476013.2_5'Flank|TMC4_ENST00000301187.4_In_Frame_Del_p.E61del	NM_001145303.1|NM_144686.2	NP_001138775|NP_653287.2	Q7Z404	TMC4_HUMAN	transmembrane channel-like 4	67	Poly-Glu.				ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CCTTCCTCCATCCTCCTCCTCCT	0.645																																						ENST00000376591.4																			0				breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22						c.(199-204)gat>ga		transmembrane channel-like 4			,	38,3,4223		14,0,10,0,3,2105					,	-8.3	0.0			104	37,2,8215		15,0,7,0,2,4103	no	codingComplex,codingComplex	TMC4	NM_144686.2,NM_001145303.1	,	29,0,17,0,5,6208	A1A1,A1A2,A1R,A2A2,A2R,RR		0.4725,0.9615,0.6391	,	,		75,5,12438				SO:0001651	inframe_deletion	147798					integral to membrane		g.chr19:54675747_54675749delTCC	AY236492	CCDS12882.1, CCDS46174.1	19q13.42	2008-02-05			ENSG00000167608	ENSG00000167608			22998	protein-coding gene	gene with protein product						12812529, 12906855	Standard	XM_005277069		Approved		uc010erf.3	Q7Z404	OTTHUMG00000066485	ENST00000376591.4:c.201_203delGGA	19.37:g.54675756_54675758delTCC	ENSP00000365776:p.Glu67del					TMC4_ENST00000301187.4_In_Frame_Del_p.ED61del	p.ED67del	NM_001145303.1|NM_144686.2	NP_001138775.1|NP_653287.1	Q7Z404	TMC4_HUMAN			2	332_334	-	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		67			Poly-Glu.		Q7Z5M3|Q8N5E4|Q8TBS7	In_Frame_Del	DEL	ENST00000376591.4	37	c.201_203delGGA	CCDS46174.1																																																																																				0.645	TMC4-011	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000156164.2			10	385						10	385	---	---	---	---
LOC101929413	101929413	broad.mit.edu	37	20	10869747	10869748	+	lincRNA	INS	-	-	T			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr20:10869747_10869748insT	ENST00000448859.1	-	0	1058				RP11-103J8.1_ENST00000605292.1_RNA																							CTCtttttttattttttttttt	0.436																																						ENST00000448859.1																			0																																																			0							g.chr20:10869747_10869748insT																													20.37:g.10869758_10869758dupT						RP11-103J8.1_ENST00000605292.1_RNA								0	1058	-									RNA	INS	ENST00000448859.1	37																																																																																						0.436	RP4-697P8.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000078011.1			7	152						7	152	---	---	---	---
GZF1	64412	broad.mit.edu	37	20	23345921	23345923	+	In_Frame_Del	DEL	GAG	GAG	-	rs547594353	byFrequency	TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr20:23345921_23345923delGAG	ENST00000338121.5	+	2	978_980	c.901_903delGAG	c.(901-903)gagdel	p.E306del	GZF1_ENST00000461789.1_3'UTR|GZF1_ENST00000544236.1_Intron|GZF1_ENST00000377051.2_In_Frame_Del_p.E306del|GZF1_ENST00000542987.1_Intron			Q9H116	GZF1_HUMAN	GDNF-inducible zinc finger protein 1	306					branching involved in ureteric bud morphogenesis (GO:0001658)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|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 distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)|sequence-specific DNA binding (GO:0043565)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|urinary_tract(2)	24	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)					ggaggaggaagaggaggaggagg	0.532																																						ENST00000338121.5																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|urinary_tract(2)	24						c.(901-903)del		GDNF-inducible zinc finger protein 1				7,68,4189		0,0,7,1,66,2058						-8.0	0.0			52	1,62,8191		0,0,1,3,56,4067	no	codingComplex	GZF1	NM_022482.3		0,0,8,4,122,6125	A1A1,A1A2,A1R,A2A2,A2R,RR		0.7633,1.7589,1.1024				8,130,12380				SO:0001651	inframe_deletion	64412				transcription, DNA-dependent	nucleolus|nucleoplasm	sequence-specific DNA binding|zinc ion binding	g.chr20:23345921_23345923delGAG	AK025447	CCDS13151.1	20p11.21	2013-01-09	2006-09-19	2006-09-19	ENSG00000125812	ENSG00000125812		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	15808	protein-coding gene	gene with protein product		613842	"""zinc finger protein 336"""	ZNF336		14522971, 16049025	Standard	NM_022482		Approved	dJ322G13.2, ZBTB23	uc002wsz.3	Q9H116	OTTHUMG00000032069	ENST00000338121.5:c.901_903delGAG	20.37:g.23345930_23345932delGAG	ENSP00000338290:p.Glu306del					GZF1_ENST00000461789.1_3'UTR|GZF1_ENST00000542987.1_Intron|GZF1_ENST00000377051.2_In_Frame_Del_p.E306del|GZF1_ENST00000544236.1_Intron	p.E306del			Q9H116	GZF1_HUMAN			2	978_980	+	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)		306					A8K199|B2RBC3|B3KPL4|B4DF58|D3DW39|Q54A22|Q96N08|Q9BQK9|Q9H117|Q9H6W6	In_Frame_Del	DEL	ENST00000338121.5	37	c.901_903delGAG	CCDS13151.1																																																																																				0.532	GZF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078333.1	NM_022482		7	290						7	290	---	---	---	---
KIF3B	9371	broad.mit.edu	37	20	30898763	30898765	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr20:30898763_30898765delGAG	ENST00000375712.3	+	2	1350_1352	c.1183_1185delGAG	c.(1183-1185)gagdel	p.E399del	KIF3B_ENST00000418717.2_Intron	NM_004798.3	NP_004789.1	O15066	KIF3B_HUMAN	kinesin family member 3B	399	Poly-Glu.				anterograde axon cargo transport (GO:0008089)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cytoskeleton-dependent intracellular transport (GO:0030705)|determination of left/right symmetry (GO:0007368)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic centrosome separation (GO:0007100)|mitotic spindle organization (GO:0007052)|plus-end-directed vesicle transport along microtubule (GO:0072383)|spindle assembly involved in mitosis (GO:0090307)	centrosome (GO:0005813)|cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intraciliary transport particle (GO:0030990)|kinesin II complex (GO:0016939)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|plus-end kinesin complex (GO:0005873)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)|Rho GTPase binding (GO:0017048)			NS(2)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			GGGTGGggaagaggaggaggagg	0.571																																						ENST00000375712.3																			0				NS(2)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36						c.(1183-1185)del		kinesin family member 3B				60,4204		6,48,2078						2.7	1.0			52	101,8153		6,89,4032	no	coding	KIF3B	NM_004798.3		12,137,6110	A1A1,A1R,RR		1.2236,1.4071,1.2861				161,12357				SO:0001651	inframe_deletion	9371				anterograde axon cargo transport|blood coagulation|determination of left/right symmetry|mitotic centrosome separation|plus-end-directed vesicle transport along microtubule|spindle assembly involved in mitosis	centrosome|cytosol|kinesin II complex|plus-end kinesin complex|spindle microtubule	ATP binding|plus-end-directed microtubule motor activity|Rho GTPase binding	g.chr20:30898763_30898765delGAG	AB002357	CCDS13200.1	20q11.21	2012-08-01			ENSG00000101350	ENSG00000101350		"""Kinesins"""	6320	protein-coding gene	gene with protein product		603754				9205841	Standard	NM_004798		Approved	KIAA0359, FLA8, KLP-11	uc002wxq.3	O15066	OTTHUMG00000032214	ENST00000375712.3:c.1183_1185delGAG	20.37:g.30898772_30898774delGAG	ENSP00000364864:p.Glu399del					KIF3B_ENST00000418717.2_Intron	p.E399del	NM_004798.3	NP_004789.1	O15066	KIF3B_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		2	1350_1352	+			399			Poly-Glu.		B2RMP4|B4DSR5|E1P5M5	In_Frame_Del	DEL	ENST00000375712.3	37	c.1183_1185delGAG	CCDS13200.1																																																																																				0.571	KIF3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078619.1	NM_004798		8	157						8	157	---	---	---	---
ANKRD20A11P	391267	broad.mit.edu	37	21	15343608	15343609	+	RNA	INS	-	-	A			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr21:15343608_15343609insA	ENST00000344693.5	-	0	736				RNU6-954P_ENST00000411355.1_RNA	NR_027270.1				ankyrin repeat domain 20 family, member A11, pseudogene																		TAAAACAGCAGAAAAAATTAAT	0.272																																						ENST00000344693.5																			0																																																			0							g.chr21:15343608_15343609insA			21q11.2	2011-11-23			ENSG00000215559	ENSG00000215559			42024	pseudogene	pseudogene			"""chromosome 21 open reading frame 81"""	C21orf81			Standard	NR_027270		Approved		uc002yjj.4		OTTHUMG00000074237		21.37:g.15343614_15343614dupA								NR_027270.1						0	736	-									RNA	INS	ENST00000344693.5	37																																																																																						0.272	ANKRD20A11P-005	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157750.1			12	450						12	450	---	---	---	---
CDC42EP1	11135	broad.mit.edu	37	22	37964409	37964429	+	In_Frame_Del	DEL	CAGCGCCTGCTGCAAACCCCT	CAGCGCCTGCTGCAAACCCCT	-	rs13056859|rs13055845|rs77417880|rs62235033|rs62235034|rs187761157|rs66468174|rs200195385	byFrequency	TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr22:37964409_37964429delCAGCGCCTGCTGCAAACCCCT	ENST00000249014.4	+	3	1178_1198	c.758_778delCAGCGCCTGCTGCAAACCCCT	c.(757-780)ccagcgcctgctgcaaacccctca>cca	p.APAANPS254del		NM_152243.2	NP_689449.1	Q00587	BORG5_HUMAN	CDC42 effector protein (Rho GTPase binding) 1	254	8 X 7 AA tandem repeats of [PT]-[AT]-A- [ENT]-[PT]-[PTS]-[AG].				positive regulation of pseudopodium assembly (GO:0031274)|regulation of cell shape (GO:0008360)|Rho protein signal transduction (GO:0007266)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)		p.N258_A264delNPSAPAA(3)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(4)|prostate(5)	15	Melanoma(58;0.0574)					GCAAACCCCCCAGCGCCTGCTGCAAACCCCTCAGCACCTGC	0.665																																						ENST00000249014.4																			3	Deletion - In frame(3)	p.N258_A264delNPSAPAA(3)	large_intestine(2)|haematopoietic_and_lymphoid_tissue(1)	endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(4)|prostate(5)	15						c.(757-780)cca>c		CDC42 effector protein (Rho GTPase binding) 1				868,3338		98,672,1333						1.5	0.0		dbSNP_130	10	4310,3696		1298,1714,991	no	coding	CDC42EP1	NM_152243.2		1396,2386,2324	A1A1,A1R,RR		46.1654,20.6372,42.4009				5178,7034				SO:0001651	inframe_deletion	11135				positive regulation of pseudopodium assembly|regulation of cell shape	actin cytoskeleton|endomembrane system|Golgi apparatus|plasma membrane	protein binding	g.chr22:37964409_37964429delCAGCGCCTGCTGCAAACCCCT	M88338	CCDS13949.1	22q13.1	2008-06-11			ENSG00000128283	ENSG00000128283			17014	protein-coding gene	gene with protein product	"""55 kDa bone marrow stromal/endothelial cell protein"", ""serum constituent protein"""	606084				1629197, 10430899	Standard	NM_152243		Approved	MSE55, CEP1, Borg5	uc003asz.4	Q00587	OTTHUMG00000150591	ENST00000249014.4:c.758_778delCAGCGCCTGCTGCAAACCCCT	22.37:g.37964409_37964429delCAGCGCCTGCTGCAAACCCCT	ENSP00000249014:p.Ala254_Ser260del						p.PAPAANPS253del	NM_152243.2	NP_689449.1	Q00587	BORG5_HUMAN			3	1178_1198	+	Melanoma(58;0.0574)		253			8 X 7 AA tandem repeats of [PT]-[AT]-A- [ENT]-[PT]-[PTS]-[AG].		A8K825|Q96GN1	In_Frame_Del	DEL	ENST00000249014.4	37	c.758_778delCAGCGCCTGCTGCAAACCCCT	CCDS13949.1																																																																																				0.665	CDC42EP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318993.1	NM_152243		16	71						16	71	---	---	---	---
MKL1	57591	broad.mit.edu	37	22	40816887	40816889	+	In_Frame_Del	DEL	TGC	TGC	-	rs200555648	byFrequency	TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr22:40816887_40816889delTGC	ENST00000355630.3	-	10	1433_1435	c.843_845delGCA	c.(841-846)cagcac>cac	p.Q281del	MKL1_ENST00000402042.1_In_Frame_Del_p.Q231del|MKL1_ENST00000407029.1_In_Frame_Del_p.Q281del|MKL1_ENST00000396617.3_In_Frame_Del_p.Q281del	NM_020831.3	NP_065882.1	Q969V6	MKL1_HUMAN	megakaryoblastic leukemia (translocation) 1	281	Gln-rich.				negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription via serum response element binding (GO:0010735)|smooth muscle cell differentiation (GO:0051145)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	actin binding (GO:0003779)|actin monomer binding (GO:0003785)|leucine zipper domain binding (GO:0043522)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						GTAGTTGTGGTGCTGCTGCTGCT	0.66			T	RBM15	acute megakaryocytic leukemia																																	ENST00000396617.3				Dom	yes		22	22q13	57591	T	megakaryoblastic leukemia (translocation) 1			L	RBM15		acute megakaryocytic leukemia		0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						c.(841-846)cac>ca		megakaryoblastic leukemia (translocation) 1																																				SO:0001651	inframe_deletion	57591				positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity	g.chr22:40816887_40816889delTGC	AB037859	CCDS14003.1, CCDS74865.1, CCDS74866.1	22q13	2008-06-12			ENSG00000196588	ENSG00000196588			14334	protein-coding gene	gene with protein product	"""megakaryocytic acute leukemia"", ""myocardin-related transcription factor A"", ""basic, SAP and coiled-coil domain"""	606078				11431691, 12019265, 14970199	Standard	XM_005261692		Approved	KIAA1438, MAL, MRTF-A, BSAC	uc003ayw.1	Q969V6	OTTHUMG00000151146	ENST00000355630.3:c.843_845delGCA	22.37:g.40816896_40816898delTGC	ENSP00000347847:p.Gln281del					MKL1_ENST00000402042.1_In_Frame_Del_p.QH231del|MKL1_ENST00000355630.3_In_Frame_Del_p.QH281del|MKL1_ENST00000407029.1_In_Frame_Del_p.QH281del	p.QH281del			Q969V6	MKL1_HUMAN			10	1433_1435	-			281			Gln-rich.		Q8TCL1|Q96SC5|Q96SC6|Q9P2B0	In_Frame_Del	DEL	ENST00000355630.3	37	c.843_845delGCA	CCDS14003.1																																																																																				0.660	MKL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321522.1	NM_020831		7	280						7	280	---	---	---	---
NUDT11	55190	broad.mit.edu	37	X	51239296	51239309	+	Start_Codon_Del	DEL	TCCTCGAGGCAGCC	TCCTCGAGGCAGCC	-	rs78182391		TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chrX:51239296_51239309delTCCTCGAGGCAGCC	ENST00000375992.3	-	0	139_152					NM_018159.3	NP_060629.2	Q96G61	NUD11_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 11						inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|intracellular (GO:0005622)	diphosphoinositol-polyphosphate diphosphatase activity (GO:0008486)|inositol diphosphate tetrakisphosphate diphosphatase activity (GO:0052840)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 1-diphosphatase activity (GO:0052846)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052847)|inositol-1-diphosphate-2,3,4,5,6-pentakisphosphate diphosphatase activity (GO:0052843)|inositol-3,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052848)|inositol-3-diphosphate-1,2,4,5,6-pentakisphosphate diphosphatase activity (GO:0052844)|inositol-5-diphosphate-1,2,3,4,6-pentakisphosphate diphosphatase activity (GO:0052845)|metal ion binding (GO:0046872)	p.?(5)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9	Ovarian(276;0.236)					TTGCACTTCATCCTCGAGGCAGCCTCCTCGAGGC	0.692										HNSCC(48;0.14)				2406	0.637351	0.497	0.4928	3775	,	,		5662	0.4464		0.4553	False		,,,				2504	0.5102				GBM(38;198 791 1498 11752 13599)	ENST00000375992.3																			5	Unknown(5)	p.?(5)	upper_aerodigestive_tract(2)|prostate(1)|breast(1)|central_nervous_system(1)	breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9								nudix (nucleoside diphosphate linked moiety X)-type motif 11				1710,202		758,11,183,87,17						3.0	1.0		dbSNP_131	12	3133,173		1220,1,692,66,40	no	frameshift	NUDT11	NM_018159.3		1978,12,875,153,57	A1A1,A1R,A1,RR,R		5.2329,10.5649,7.1867				4843,375				SO:0001582	initiator_codon_variant	0					cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding	g.chrX:51239296_51239309delTCCTCGAGGCAGCC	AK001490	CCDS43952.1	Xp11.22-p11.1	2014-05-20			ENSG00000196368	ENSG00000196368		"""Nudix motif containing"""	18011	protein-coding gene	gene with protein product						12105228	Standard	NM_018159		Approved	DIPP3b, FLJ10628, hDIPP3beta	uc010njt.3	Q96G61	OTTHUMG00000021531		X.37:g.51239296_51239309delTCCTCGAGGCAGCC		HNSCC(48;0.14)						NM_018159.3	NP_060629.2	Q96G61	NUD11_HUMAN			0	139_152	-	Ovarian(276;0.236)							Q9NVN0	Translation_Start_Site	DEL	ENST00000375992.3	37		CCDS43952.1																																																																																				0.692	NUDT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056579.1			8	50						8	50	---	---	---	---
ATRX	546	broad.mit.edu	37	X	76907782	76907784	+	In_Frame_Del	DEL	TCC	TCC	-	rs398123423|rs587780286		TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chrX:76907782_76907784delTCC	ENST00000373344.5	-	15	4591_4593	c.4377_4379delGGA	c.(4375-4380)gaggaa>gaa	p.1459_1460EE>E	ATRX_ENST00000395603.3_In_Frame_Del_p.1421_1422EE>E|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1459	Poly-Glu.				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)	p.?(1)		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						ctcctcctcttcctcctcctcct	0.389			"""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"""		1	Unknown(1)	p.?(1)	bone(1)	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.(4375-4380)gaa>ga		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)		,	8,3713		0,6,2,1586,535					,	-5.4	0.0			152	29,6454		0,23,6,2334,1763	no	coding,coding	ATRX	NM_138270.2,NM_000489.3	,	0,29,8,3920,2298	A1A1,A1R,A1,RR,R		0.4473,0.215,0.3626	,	,		37,10167				SO:0001651	inframe_deletion	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:76907782_76907784delTCC	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.4377_4379delGGA	X.37:g.76907791_76907793delTCC	ENSP00000362441:p.Glu1464del					ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_In_Frame_Del_p.EE1425del	p.EE1463del	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			15	4591_4593	-			1463			Poly-Glu.		D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	In_Frame_Del	DEL	ENST00000373344.5	37	c.4377_4379delGGA	CCDS14434.1																																																																																				0.389	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		17	464						17	464	---	---	---	---
ZNF185	7739	broad.mit.edu	37	X	152087570	152087572	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chrX:152087570_152087572delGAG	ENST00000370268.4	+	7	512_514	c.475_477delGAG	c.(475-477)gagdel	p.E165del	ZNF185_ENST00000318504.7_In_Frame_Del_p.E165del|ZNF185_ENST00000318529.8_In_Frame_Del_p.E30del|ZNF185_ENST00000324823.6_In_Frame_Del_p.E30del|ZNF185_ENST00000449285.2_In_Frame_Del_p.E165del|ZNF185_ENST00000539731.1_In_Frame_Del_p.E165del|ZNF185_ENST00000370270.2_In_Frame_Del_p.E165del|ZNF185_ENST00000535861.1_In_Frame_Del_p.E165del			O15231	ZN185_HUMAN	zinc finger protein 185 (LIM domain)	165	Poly-Glu.					actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(3)	12	Acute lymphoblastic leukemia(192;6.56e-05)					AGGGGACACCgaggaggaggagg	0.596																																						ENST00000535861.1																			0				NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(3)	12						c.(475-477)del		zinc finger protein 185 (LIM domain)			,,,,,,	160,3115		6,91,57,1273,478					,,,,,,	-7.0	0.0			54	367,5848		0,178,189,2088,1494	no	coding,coding,coding,coding,coding,coding,coding	ZNF185	NM_007150.3,NM_001178113.1,NM_001178110.1,NM_001178109.1,NM_001178108.1,NM_001178107.1,NM_001178106.1	,,,,,,	6,269,246,3361,1972	A1A1,A1R,A1,RR,R		5.9051,4.8855,5.5532	,,,,,,	,,,,,,		527,8963				SO:0001651	inframe_deletion	7739					cytoplasm|cytoskeleton|focal adhesion	zinc ion binding	g.chrX:152087570_152087572delGAG	AK056517	CCDS48184.1, CCDS55528.1, CCDS55529.1, CCDS55530.1, CCDS55531.1, CCDS55532.1, CCDS69832.1	Xq28	2012-08-08			ENSG00000147394	ENSG00000147394		"""Zinc fingers, C2H2-type"""	12976	protein-coding gene	gene with protein product		300381				9268636	Standard	NM_001178106		Approved		uc011myg.2	O15231	OTTHUMG00000024187	ENST00000370268.4:c.475_477delGAG	X.37:g.152087579_152087581delGAG	ENSP00000359291:p.Glu165del					ZNF185_ENST00000539731.1_In_Frame_Del_p.E165del|ZNF185_ENST00000324823.6_In_Frame_Del_p.E30del|ZNF185_ENST00000449285.2_In_Frame_Del_p.E165del|ZNF185_ENST00000318504.7_In_Frame_Del_p.E165del|ZNF185_ENST00000318529.8_In_Frame_Del_p.E30del|ZNF185_ENST00000370270.1_In_Frame_Del_p.E25del|ZNF185_ENST00000370268.4_In_Frame_Del_p.E165del	p.E165del	NM_001178106.1	NP_001171577.1	O15231	ZN185_HUMAN			7	523_525	+	Acute lymphoblastic leukemia(192;6.56e-05)		165			Poly-Glu.		A4FTV3|A6NME5|B4DLE9|B7Z771|B8K2L9|B8K2M0|B8K2M1|B8K2M2|E9PFR6|F5GXF7|F5GZL4|F8W8V7|H0Y4M8|O00345|Q8N1R8|Q9NSD2	In_Frame_Del	DEL	ENST00000370268.4	37	c.475_477delGAG	CCDS48184.1																																																																																				0.596	ZNF185-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000377480.1	NM_007150		11	111						11	111	---	---	---	---
PLXNA3	55558	broad.mit.edu	37	X	153688564	153688565	+	Frame_Shift_Ins	INS	-	-	G	rs375310385		TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chrX:153688564_153688565insG	ENST00000369682.3	+	2	216_217	c.41_42insG	c.(40-45)gtggggfs	p.VG14fs		NM_017514.3	NP_059984.3	P51805	PLXA3_HUMAN	plexin A3	14					axon guidance (GO:0007411)|branchiomotor neuron axon guidance (GO:0021785)|facial nerve structural organization (GO:0021612)|hippocampus development (GO:0021766)|multicellular organismal development (GO:0007275)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|positive regulation of cytoskeleton organization (GO:0051495)|pyramidal neuron development (GO:0021860)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|trigeminal nerve structural organization (GO:0021637)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)|transmembrane signaling receptor activity (GO:0004888)	p.A17fs*39(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TTCCTTGCCGTGGGGGGGGCCC	0.683																																						ENST00000369682.3																			1	Insertion - Frameshift(1)	p.A17fs*39(1)	ovary(1)	breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48						c.(40-42)gggfs		plexin A3																																				SO:0001589	frameshift_variant	55558				axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity	g.chrX:153688564_153688565insG	X74609	CCDS14752.1	Xq28	2008-02-05			ENSG00000130827	ENSG00000130827		"""Plexins"""	9101	protein-coding gene	gene with protein product		300022		PLXN4		8248200, 8733135	Standard	NM_017514		Approved	SEX, XAP-6, 6.3, Plxn3	uc004flm.3	P51805	OTTHUMG00000033290	ENST00000369682.3:c.49dupG	X.37:g.153688572_153688572dupG	ENSP00000358696:p.Val14fs						p.G14fs	NM_017514.3	NP_059984.2	P51805	PLXA3_HUMAN			2	216_217	+	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		14					Q5HY36	Frame_Shift_Ins	INS	ENST00000369682.3	37	c.41_42insG	CCDS14752.1																																																																																				0.683	PLXNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081634.1	NM_017514		7	415						7	415	---	---	---	---
